Incidental Mutation 'R1769:Kirrel1'
| ID |
194671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kirrel1
|
| Ensembl Gene |
ENSMUSG00000041734 |
| Gene Name |
kirre like nephrin family adhesion molecule 1 |
| Synonyms |
6720469N11Rik, Neph1, Kirrel1, Kirrel |
| MMRRC Submission |
039800-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1769 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
86985900-87082054 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86996458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 380
(M380I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041732]
[ENSMUST00000107618]
[ENSMUST00000159976]
|
| AlphaFold |
Q80W68 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041732
AA Change: M380I
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043756
Gene: ENSMUSG00000041734
AA Change: M380I
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
59 |
149 |
3.62e-10 |
SMART |
|
IG_like
|
160 |
252 |
1.27e1 |
SMART |
|
IG_like
|
261 |
337 |
1.89e1 |
SMART |
|
IGc2
|
352 |
410 |
3.28e-8 |
SMART |
|
IG_like
|
430 |
522 |
5.71e0 |
SMART |
|
transmembrane domain
|
529 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107618
AA Change: M380I
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103243
Gene: ENSMUSG00000041734
AA Change: M380I
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
59 |
149 |
3.62e-10 |
SMART |
|
IG_like
|
160 |
252 |
1.27e1 |
SMART |
|
IG_like
|
261 |
337 |
1.89e1 |
SMART |
|
IGc2
|
352 |
410 |
3.28e-8 |
SMART |
|
IG_like
|
430 |
522 |
5.71e0 |
SMART |
|
transmembrane domain
|
529 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
712 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159976
AA Change: M380I
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125525
Gene: ENSMUSG00000041734
AA Change: M380I
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
59 |
149 |
3.62e-10 |
SMART |
|
IG_like
|
160 |
252 |
1.27e1 |
SMART |
|
IG_like
|
261 |
337 |
1.89e1 |
SMART |
|
IGc2
|
352 |
410 |
3.28e-8 |
SMART |
|
IG_like
|
430 |
522 |
5.71e0 |
SMART |
|
transmembrane domain
|
529 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
712 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0922 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (91/91) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit postnatal lethality and are small and sickly. Glomerular and tubular defects in the kidney result in severe proteinuria. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(121) : Targeted, other(2) Gene trapped(119) |
| Other mutations in this stock |
Total: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,644,519 (GRCm39) |
I135V |
probably benign |
Het |
| Abca1 |
T |
A |
4: 53,074,325 (GRCm39) |
K1119N |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,573,194 (GRCm39) |
|
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,809 (GRCm39) |
E476G |
possibly damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,968,740 (GRCm39) |
F271S |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,576,586 (GRCm39) |
V847A |
probably damaging |
Het |
| Best3 |
A |
G |
10: 116,859,883 (GRCm39) |
N381S |
probably benign |
Het |
| Blm |
A |
T |
7: 80,163,118 (GRCm39) |
S78T |
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,907,520 (GRCm39) |
L871Q |
probably damaging |
Het |
| Car13 |
T |
A |
3: 14,715,795 (GRCm39) |
H104Q |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,568 (GRCm39) |
M165V |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,843,618 (GRCm39) |
M431K |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 109,980,606 (GRCm39) |
T178I |
probably damaging |
Het |
| Ceacam3 |
C |
T |
7: 16,892,301 (GRCm39) |
T348I |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,740,125 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
A |
T |
4: 148,098,758 (GRCm39) |
|
probably null |
Het |
| Csf3 |
A |
G |
11: 98,593,246 (GRCm39) |
Y121C |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,567,505 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,864,815 (GRCm39) |
I221T |
probably benign |
Het |
| Dgcr2 |
T |
C |
16: 17,675,115 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,250 (GRCm39) |
F474S |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,032,839 (GRCm39) |
I399V |
probably null |
Het |
| Efcab14 |
T |
A |
4: 115,610,188 (GRCm39) |
L183Q |
probably damaging |
Het |
| Evx2 |
A |
G |
2: 74,489,501 (GRCm39) |
V88A |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,285,109 (GRCm39) |
N730S |
probably benign |
Het |
| Farsb |
T |
A |
1: 78,443,620 (GRCm39) |
K196I |
probably benign |
Het |
| Fbln7 |
C |
T |
2: 128,735,682 (GRCm39) |
|
probably benign |
Het |
| Fhdc1 |
A |
G |
3: 84,356,085 (GRCm39) |
F453S |
probably damaging |
Het |
| Gast |
T |
A |
11: 100,227,684 (GRCm39) |
W89R |
probably damaging |
Het |
| Gata2 |
A |
G |
6: 88,182,237 (GRCm39) |
S402G |
probably benign |
Het |
| Gin1 |
T |
A |
1: 97,720,162 (GRCm39) |
S386T |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,736,363 (GRCm39) |
E1870G |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,954,768 (GRCm39) |
V1028E |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Ifi209 |
G |
A |
1: 173,468,728 (GRCm39) |
S186N |
probably benign |
Het |
| Ifih1 |
C |
T |
2: 62,436,738 (GRCm39) |
A562T |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,014,481 (GRCm39) |
L106S |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,146,050 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,199,234 (GRCm39) |
S141G |
possibly damaging |
Het |
| Klra3 |
T |
C |
6: 130,307,226 (GRCm39) |
|
probably null |
Het |
| Lama2 |
G |
C |
10: 27,084,403 (GRCm39) |
F922L |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,084,402 (GRCm39) |
S923T |
probably damaging |
Het |
| Llgl1 |
G |
A |
11: 60,597,873 (GRCm39) |
V331M |
probably damaging |
Het |
| Lrrc30 |
T |
C |
17: 67,938,676 (GRCm39) |
*301W |
probably null |
Het |
| Map1lc3b |
C |
T |
8: 122,320,226 (GRCm39) |
|
probably benign |
Het |
| Mbd2 |
A |
G |
18: 70,749,690 (GRCm39) |
I302V |
probably benign |
Het |
| Med27 |
A |
G |
2: 29,390,307 (GRCm39) |
Y78C |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,996,771 (GRCm39) |
|
probably null |
Het |
| Mideas |
G |
A |
12: 84,205,124 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
T |
C |
3: 151,993,191 (GRCm39) |
E346G |
probably damaging |
Het |
| Myef2 |
A |
G |
2: 124,957,363 (GRCm39) |
S131P |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,069,527 (GRCm39) |
H899R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,456,556 (GRCm39) |
|
probably benign |
Het |
| Ngf |
T |
A |
3: 102,427,513 (GRCm39) |
N87K |
possibly damaging |
Het |
| Nol10 |
T |
A |
12: 17,466,709 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,385,231 (GRCm39) |
I221V |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,182,366 (GRCm39) |
G777D |
probably damaging |
Het |
| Or5ac17 |
A |
G |
16: 59,036,344 (GRCm39) |
F211L |
probably benign |
Het |
| Or5b96 |
A |
G |
19: 12,867,047 (GRCm39) |
V298A |
probably damaging |
Het |
| Or6c1 |
T |
A |
10: 129,518,081 (GRCm39) |
T176S |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,682 (GRCm39) |
Q283L |
probably damaging |
Het |
| Or8d6 |
G |
T |
9: 39,854,251 (GRCm39) |
D232Y |
probably benign |
Het |
| Oxt |
A |
T |
2: 130,418,220 (GRCm39) |
R31W |
probably damaging |
Het |
| Pde4dip |
A |
G |
3: 97,603,246 (GRCm39) |
S2248P |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,859,460 (GRCm39) |
V16A |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,080,561 (GRCm39) |
S616P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,540 (GRCm39) |
Y379C |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,104,159 (GRCm39) |
N540D |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,220,746 (GRCm39) |
H255Y |
possibly damaging |
Het |
| Rad21 |
T |
C |
15: 51,835,703 (GRCm39) |
N237D |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,582,113 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
C |
A |
10: 21,873,007 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
G |
T |
7: 16,531,464 (GRCm39) |
A490S |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,755,326 (GRCm39) |
Y478H |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,328 (GRCm39) |
Y478* |
probably null |
Het |
| Slc9a3 |
A |
T |
13: 74,311,190 (GRCm39) |
M562L |
probably benign |
Het |
| Spmip4 |
A |
G |
6: 50,568,801 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,555,714 (GRCm39) |
R57* |
probably null |
Het |
| Tiam1 |
T |
C |
16: 89,657,167 (GRCm39) |
R690G |
probably damaging |
Het |
| Tmem150b |
A |
G |
7: 4,727,365 (GRCm39) |
S47P |
probably damaging |
Het |
| Trim39 |
C |
T |
17: 36,574,832 (GRCm39) |
R190Q |
probably damaging |
Het |
| Ttc32 |
A |
T |
12: 9,085,073 (GRCm39) |
I98L |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,873,003 (GRCm39) |
T3304A |
probably benign |
Het |
| Wdr35 |
A |
C |
12: 9,062,728 (GRCm39) |
D638A |
probably damaging |
Het |
| Wwc1 |
G |
T |
11: 35,752,671 (GRCm39) |
P797T |
probably benign |
Het |
| Zan |
T |
A |
5: 137,462,780 (GRCm39) |
T800S |
unknown |
Het |
| Zbbx |
A |
G |
3: 74,990,926 (GRCm39) |
|
probably benign |
Het |
| Zup1 |
T |
C |
10: 33,811,172 (GRCm39) |
M291V |
probably damaging |
Het |
|
| Other mutations in Kirrel1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Kirrel1
|
APN |
3 |
86,997,182 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01865:Kirrel1
|
APN |
3 |
86,993,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01875:Kirrel1
|
APN |
3 |
87,003,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02337:Kirrel1
|
APN |
3 |
86,996,519 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02724:Kirrel1
|
APN |
3 |
86,997,780 (GRCm39) |
nonsense |
probably null |
|
|
IGL02825:Kirrel1
|
APN |
3 |
86,996,595 (GRCm39) |
splice site |
probably benign |
|
|
IGL02826:Kirrel1
|
APN |
3 |
86,995,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03102:Kirrel1
|
APN |
3 |
86,990,807 (GRCm39) |
missense |
probably damaging |
0.98 |
|
D4043:Kirrel1
|
UTSW |
3 |
86,990,510 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0360:Kirrel1
|
UTSW |
3 |
86,997,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Kirrel1
|
UTSW |
3 |
86,997,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Kirrel1
|
UTSW |
3 |
86,990,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0503:Kirrel1
|
UTSW |
3 |
87,005,109 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1112:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1116:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1144:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1147:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1147:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1190:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1226:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1501:Kirrel1
|
UTSW |
3 |
86,997,779 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1538:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1546:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1628:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1630:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1631:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1664:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1671:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1695:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1807:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1808:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1840:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1876:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R1995:Kirrel1
|
UTSW |
3 |
87,003,093 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2014:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R2086:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R2108:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R2354:Kirrel1
|
UTSW |
3 |
86,995,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2407:Kirrel1
|
UTSW |
3 |
86,992,150 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2904:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R2905:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R2958:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R2959:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R2960:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R2961:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3026:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3028:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3034:Kirrel1
|
UTSW |
3 |
86,990,746 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3149:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3195:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3196:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3499:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3699:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3720:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3721:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3788:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3793:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3876:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3877:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3901:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3910:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3911:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3912:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3913:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3930:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R3931:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4022:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4067:Kirrel1
|
UTSW |
3 |
86,995,774 (GRCm39) |
nonsense |
probably null |
|
|
R4077:Kirrel1
|
UTSW |
3 |
86,992,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4198:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4328:Kirrel1
|
UTSW |
3 |
86,992,081 (GRCm39) |
intron |
probably benign |
|
|
R4355:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4363:Kirrel1
|
UTSW |
3 |
86,997,792 (GRCm39) |
nonsense |
probably null |
|
|
R4378:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4386:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4460:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4468:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4469:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4650:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4652:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4734:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4748:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R4749:Kirrel1
|
UTSW |
3 |
86,996,458 (GRCm39) |
missense |
probably null |
0.46 |
|
R5304:Kirrel1
|
UTSW |
3 |
86,996,902 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5534:Kirrel1
|
UTSW |
3 |
86,997,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Kirrel1
|
UTSW |
3 |
86,996,462 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7199:Kirrel1
|
UTSW |
3 |
86,990,695 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7221:Kirrel1
|
UTSW |
3 |
86,993,704 (GRCm39) |
nonsense |
probably null |
|
|
R7284:Kirrel1
|
UTSW |
3 |
86,990,694 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7332:Kirrel1
|
UTSW |
3 |
86,995,705 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7369:Kirrel1
|
UTSW |
3 |
87,048,391 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7371:Kirrel1
|
UTSW |
3 |
86,995,729 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7508:Kirrel1
|
UTSW |
3 |
86,990,746 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7566:Kirrel1
|
UTSW |
3 |
86,995,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Kirrel1
|
UTSW |
3 |
87,002,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7621:Kirrel1
|
UTSW |
3 |
86,995,528 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8030:Kirrel1
|
UTSW |
3 |
87,005,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Kirrel1
|
UTSW |
3 |
86,993,735 (GRCm39) |
nonsense |
probably null |
|
|
R8261:Kirrel1
|
UTSW |
3 |
86,995,309 (GRCm39) |
intron |
probably benign |
|
|
R8477:Kirrel1
|
UTSW |
3 |
86,992,138 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8512:Kirrel1
|
UTSW |
3 |
86,995,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8954:Kirrel1
|
UTSW |
3 |
86,997,173 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8987:Kirrel1
|
UTSW |
3 |
86,992,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9058:Kirrel1
|
UTSW |
3 |
86,992,442 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9146:Kirrel1
|
UTSW |
3 |
87,003,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Kirrel1
|
UTSW |
3 |
87,005,123 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9527:Kirrel1
|
UTSW |
3 |
86,996,912 (GRCm39) |
nonsense |
probably null |
|
|
R9629:Kirrel1
|
UTSW |
3 |
87,003,025 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Kirrel1
|
UTSW |
3 |
86,991,182 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTATGGCTGACTGCAAGTACCCTC -3'
(R):5'- GGGACGAAAACTCCACTAACCTGG -3'
Sequencing Primer
(F):5'- GACTGCAAGTACCCTCTTTCC -3'
(R):5'- AGCTGATGATTCTCAGGCAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation