Incidental Mutation 'R7556:Atrnl1'
| ID |
584816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrnl1
|
| Ensembl Gene |
ENSMUSG00000054843 |
| Gene Name |
attractin like 1 |
| Synonyms |
Alp |
| MMRRC Submission |
045624-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R7556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57643278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 389
(V389I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
| AlphaFold |
Q6A051 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077282
AA Change: V389I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000076514
Gene: ENSMUSG00000054843
AA Change: V389I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
32 |
N/A |
INTRINSIC |
|
EGF
|
61 |
90 |
5.71e-1 |
SMART |
|
CUB
|
92 |
208 |
1.43e-11 |
SMART |
|
EGF
|
209 |
244 |
1.95e1 |
SMART |
|
Pfam:EGF_2
|
248 |
279 |
5.8e-7 |
PFAM |
|
Pfam:Kelch_5
|
350 |
391 |
2.1e-9 |
PFAM |
|
Pfam:Kelch_6
|
354 |
401 |
5.8e-8 |
PFAM |
|
Pfam:Kelch_4
|
465 |
517 |
4.3e-7 |
PFAM |
|
Pfam:Kelch_1
|
519 |
573 |
2.7e-6 |
PFAM |
|
PSI
|
613 |
656 |
3.38e-1 |
SMART |
|
PSI
|
665 |
708 |
2e-3 |
SMART |
|
PSI
|
714 |
759 |
1.72e-2 |
SMART |
|
CLECT
|
747 |
872 |
2.86e-20 |
SMART |
|
PSI
|
888 |
938 |
6.26e-5 |
SMART |
|
PSI
|
941 |
1011 |
1.73e-7 |
SMART |
|
EGF_Lam
|
1013 |
1056 |
1.07e-5 |
SMART |
|
low complexity region
|
1157 |
1173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1229 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1261 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1326 |
1339 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit normal coat coloring and normal brain morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
T |
9: 46,221,611 (GRCm39) |
W11* |
probably null |
Het |
| A2ml1 |
A |
G |
6: 128,546,927 (GRCm39) |
S401P |
probably damaging |
Het |
| Adamtsl1 |
T |
A |
4: 86,195,358 (GRCm39) |
Y592N |
probably benign |
Het |
| Adh6b |
C |
T |
3: 138,058,546 (GRCm39) |
T76I |
probably damaging |
Het |
| Aebp2 |
C |
A |
6: 140,623,137 (GRCm39) |
P503Q |
probably benign |
Het |
| Ankrd2 |
A |
G |
19: 42,028,839 (GRCm39) |
D134G |
|
Het |
| Atf7ip |
T |
C |
6: 136,538,239 (GRCm39) |
S491P |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,680,991 (GRCm39) |
D832G |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,178,589 (GRCm39) |
S2383P |
probably damaging |
Het |
| Brd9 |
A |
G |
13: 74,092,886 (GRCm39) |
D292G |
possibly damaging |
Het |
| Cacna1e |
G |
T |
1: 154,348,419 (GRCm39) |
Q781K |
probably benign |
Het |
| Ccdc9 |
T |
C |
7: 16,018,491 (GRCm39) |
|
probably benign |
Het |
| Cdc42ep4 |
C |
G |
11: 113,619,366 (GRCm39) |
E342Q |
probably damaging |
Het |
| Celf3 |
C |
T |
3: 94,387,590 (GRCm39) |
T54M |
probably damaging |
Het |
| Cenpn |
T |
C |
8: 117,664,008 (GRCm39) |
Y267H |
probably damaging |
Het |
| Chrnb4 |
T |
C |
9: 54,942,339 (GRCm39) |
T312A |
probably benign |
Het |
| Clcn3 |
T |
A |
8: 61,382,521 (GRCm39) |
T383S |
probably damaging |
Het |
| Cln3 |
T |
C |
7: 126,174,242 (GRCm39) |
Q327R |
probably damaging |
Het |
| Cnep1r1 |
T |
C |
8: 88,851,761 (GRCm39) |
L50P |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,566,144 (GRCm39) |
N512S |
probably benign |
Het |
| Col7a1 |
T |
A |
9: 108,811,533 (GRCm39) |
|
probably null |
Het |
| Cryba4 |
C |
T |
5: 112,398,969 (GRCm39) |
R25Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,290,389 (GRCm39) |
I1260V |
probably null |
Het |
| Dock2 |
G |
T |
11: 34,611,778 (GRCm39) |
T195K |
probably benign |
Het |
| Dpp9 |
A |
T |
17: 56,497,012 (GRCm39) |
I740N |
possibly damaging |
Het |
| Fbxl21 |
A |
T |
13: 56,674,741 (GRCm39) |
N31Y |
probably benign |
Het |
| Frat1 |
G |
A |
19: 41,818,959 (GRCm39) |
R118Q |
possibly damaging |
Het |
| Gna11 |
A |
G |
10: 81,367,208 (GRCm39) |
F228S |
|
Het |
| Golgb1 |
A |
T |
16: 36,736,155 (GRCm39) |
M1842L |
probably benign |
Het |
| Got1 |
A |
T |
19: 43,491,469 (GRCm39) |
M327K |
probably damaging |
Het |
| H4c9 |
A |
G |
13: 22,225,414 (GRCm39) |
I27T |
probably damaging |
Het |
| Hexa |
T |
A |
9: 59,470,582 (GRCm39) |
L468Q |
probably damaging |
Het |
| Ift57 |
G |
A |
16: 49,526,491 (GRCm39) |
V178I |
probably benign |
Het |
| Kbtbd13 |
T |
C |
9: 65,298,757 (GRCm39) |
T60A |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,496,649 (GRCm39) |
T194A |
probably damaging |
Het |
| Krtap16-3 |
C |
A |
16: 88,759,666 (GRCm39) |
G16C |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,014,757 (GRCm39) |
S639P |
probably benign |
Het |
| Mapt |
C |
A |
11: 104,189,528 (GRCm39) |
P182Q |
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,023,071 (GRCm39) |
T86A |
probably damaging |
Het |
| Mecom |
G |
T |
3: 30,041,220 (GRCm39) |
H125N |
probably benign |
Het |
| Med18 |
T |
C |
4: 132,187,247 (GRCm39) |
H84R |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,307,439 (GRCm39) |
Y798C |
|
Het |
| Mycbp |
T |
C |
4: 123,799,060 (GRCm39) |
Y17H |
probably damaging |
Het |
| Nacad |
C |
T |
11: 6,551,272 (GRCm39) |
V640M |
possibly damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,320,794 (GRCm39) |
V1092I |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,715,642 (GRCm39) |
E696G |
probably damaging |
Het |
| Notch4 |
G |
A |
17: 34,794,444 (GRCm39) |
C741Y |
probably damaging |
Het |
| Or10g7 |
A |
G |
9: 39,905,978 (GRCm39) |
N291D |
probably damaging |
Het |
| Or6d12 |
C |
T |
6: 116,493,697 (GRCm39) |
Q320* |
probably null |
Het |
| Osbpl10 |
C |
A |
9: 115,036,692 (GRCm39) |
H229Q |
probably damaging |
Het |
| Pif1 |
A |
T |
9: 65,496,993 (GRCm39) |
|
probably null |
Het |
| Plk2 |
T |
G |
13: 110,533,122 (GRCm39) |
|
probably null |
Het |
| Ppp1r42 |
T |
C |
1: 10,065,408 (GRCm39) |
H172R |
probably benign |
Het |
| Ring1 |
A |
G |
17: 34,240,688 (GRCm39) |
I363T |
possibly damaging |
Het |
| Rnf168 |
T |
G |
16: 32,117,863 (GRCm39) |
Y475D |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 109,913,260 (GRCm39) |
K1671N |
probably benign |
Het |
| Sema6d |
A |
G |
2: 124,496,109 (GRCm39) |
N51S |
probably damaging |
Het |
| Setx |
C |
A |
2: 29,036,505 (GRCm39) |
Q997K |
possibly damaging |
Het |
| Skint5 |
T |
G |
4: 113,425,162 (GRCm39) |
Q1088P |
unknown |
Het |
| Slc22a27 |
T |
C |
19: 7,843,119 (GRCm39) |
D528G |
probably damaging |
Het |
| Slc6a7 |
T |
A |
18: 61,140,514 (GRCm39) |
K173* |
probably null |
Het |
| Smc2 |
T |
C |
4: 52,457,379 (GRCm39) |
F380L |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,849,798 (GRCm39) |
M777V |
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,837,307 (GRCm39) |
N319I |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,799,857 (GRCm39) |
V93A |
|
Het |
| Tbx20 |
T |
C |
9: 24,661,573 (GRCm39) |
|
probably null |
Het |
| Trbv20 |
G |
A |
6: 41,165,715 (GRCm39) |
V47I |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,782,155 (GRCm39) |
C192* |
probably null |
Het |
| Tsbp1 |
A |
T |
17: 34,656,691 (GRCm39) |
I103F |
unknown |
Het |
| Tulp2 |
A |
G |
7: 45,168,005 (GRCm39) |
|
probably null |
Het |
| Ush2a |
C |
A |
1: 188,689,690 (GRCm39) |
P5084Q |
probably benign |
Het |
| Virma |
T |
C |
4: 11,518,927 (GRCm39) |
Y675H |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,093 (GRCm39) |
N369K |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,233 (GRCm39) |
M393K |
probably damaging |
Het |
| Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (GRCm39) |
|
probably null |
Het |
| Xpot |
A |
G |
10: 121,449,411 (GRCm39) |
S30P |
probably benign |
Het |
| Zfp947 |
T |
C |
17: 22,364,597 (GRCm39) |
Y359C |
probably benign |
Het |
|
| Other mutations in Atrnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Atrnl1
|
APN |
19 |
57,680,249 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00707:Atrnl1
|
APN |
19 |
57,661,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00921:Atrnl1
|
APN |
19 |
57,690,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01410:Atrnl1
|
APN |
19 |
58,119,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Atrnl1
|
APN |
19 |
57,688,144 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01756:Atrnl1
|
APN |
19 |
57,641,380 (GRCm39) |
missense |
probably benign |
|
|
IGL01971:Atrnl1
|
APN |
19 |
57,741,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02019:Atrnl1
|
APN |
19 |
57,680,195 (GRCm39) |
splice site |
probably benign |
|
|
IGL02580:Atrnl1
|
APN |
19 |
57,703,008 (GRCm39) |
splice site |
probably benign |
|
|
IGL02649:Atrnl1
|
APN |
19 |
57,638,873 (GRCm39) |
splice site |
probably benign |
|
|
IGL02676:Atrnl1
|
APN |
19 |
57,680,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03276:Atrnl1
|
APN |
19 |
57,641,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03379:Atrnl1
|
APN |
19 |
57,630,973 (GRCm39) |
missense |
probably benign |
0.02 |
|
Magnetogorsk
|
UTSW |
19 |
57,618,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
polar
|
UTSW |
19 |
57,641,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4812001:Atrnl1
|
UTSW |
19 |
57,720,055 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0109:Atrnl1
|
UTSW |
19 |
57,743,949 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0308:Atrnl1
|
UTSW |
19 |
57,741,720 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0394:Atrnl1
|
UTSW |
19 |
57,661,608 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0734:Atrnl1
|
UTSW |
19 |
57,643,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0811:Atrnl1
|
UTSW |
19 |
57,661,573 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0812:Atrnl1
|
UTSW |
19 |
57,661,573 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1183:Atrnl1
|
UTSW |
19 |
57,638,725 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1213:Atrnl1
|
UTSW |
19 |
57,626,894 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1344:Atrnl1
|
UTSW |
19 |
57,924,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1418:Atrnl1
|
UTSW |
19 |
57,924,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1707:Atrnl1
|
UTSW |
19 |
57,675,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1748:Atrnl1
|
UTSW |
19 |
57,703,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2051:Atrnl1
|
UTSW |
19 |
57,680,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2113:Atrnl1
|
UTSW |
19 |
57,744,048 (GRCm39) |
nonsense |
probably null |
|
|
R2130:Atrnl1
|
UTSW |
19 |
57,643,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:Atrnl1
|
UTSW |
19 |
57,645,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3916:Atrnl1
|
UTSW |
19 |
57,924,084 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4524:Atrnl1
|
UTSW |
19 |
57,618,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Atrnl1
|
UTSW |
19 |
57,617,590 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4712:Atrnl1
|
UTSW |
19 |
57,641,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4784:Atrnl1
|
UTSW |
19 |
57,617,590 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4785:Atrnl1
|
UTSW |
19 |
57,617,590 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4798:Atrnl1
|
UTSW |
19 |
58,030,793 (GRCm39) |
missense |
probably benign |
|
|
R5172:Atrnl1
|
UTSW |
19 |
57,673,945 (GRCm39) |
nonsense |
probably null |
|
|
R5226:Atrnl1
|
UTSW |
19 |
57,638,767 (GRCm39) |
missense |
probably benign |
|
|
R5289:Atrnl1
|
UTSW |
19 |
57,645,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Atrnl1
|
UTSW |
19 |
57,743,968 (GRCm39) |
missense |
probably benign |
|
|
R5737:Atrnl1
|
UTSW |
19 |
57,766,320 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5782:Atrnl1
|
UTSW |
19 |
57,741,718 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5826:Atrnl1
|
UTSW |
19 |
57,618,724 (GRCm39) |
nonsense |
probably null |
|
|
R6169:Atrnl1
|
UTSW |
19 |
57,630,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6242:Atrnl1
|
UTSW |
19 |
57,630,910 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6342:Atrnl1
|
UTSW |
19 |
57,626,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Atrnl1
|
UTSW |
19 |
57,638,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6811:Atrnl1
|
UTSW |
19 |
57,643,393 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6897:Atrnl1
|
UTSW |
19 |
58,030,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7024:Atrnl1
|
UTSW |
19 |
57,626,882 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7085:Atrnl1
|
UTSW |
19 |
57,680,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Atrnl1
|
UTSW |
19 |
58,030,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Atrnl1
|
UTSW |
19 |
57,924,038 (GRCm39) |
nonsense |
probably null |
|
|
R7289:Atrnl1
|
UTSW |
19 |
57,638,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7310:Atrnl1
|
UTSW |
19 |
57,630,856 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7372:Atrnl1
|
UTSW |
19 |
57,924,078 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7432:Atrnl1
|
UTSW |
19 |
57,743,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Atrnl1
|
UTSW |
19 |
57,684,744 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7567:Atrnl1
|
UTSW |
19 |
57,687,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7608:Atrnl1
|
UTSW |
19 |
57,703,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Atrnl1
|
UTSW |
19 |
57,618,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Atrnl1
|
UTSW |
19 |
57,599,811 (GRCm39) |
nonsense |
probably null |
|
|
R7656:Atrnl1
|
UTSW |
19 |
57,599,811 (GRCm39) |
nonsense |
probably null |
|
|
R7718:Atrnl1
|
UTSW |
19 |
57,728,615 (GRCm39) |
nonsense |
probably null |
|
|
R7721:Atrnl1
|
UTSW |
19 |
57,684,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7726:Atrnl1
|
UTSW |
19 |
57,690,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Atrnl1
|
UTSW |
19 |
57,690,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7774:Atrnl1
|
UTSW |
19 |
57,688,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Atrnl1
|
UTSW |
19 |
57,670,878 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8119:Atrnl1
|
UTSW |
19 |
57,630,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9242:Atrnl1
|
UTSW |
19 |
57,645,660 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9265:Atrnl1
|
UTSW |
19 |
57,766,359 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9272:Atrnl1
|
UTSW |
19 |
57,643,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9480:Atrnl1
|
UTSW |
19 |
57,690,420 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9526:Atrnl1
|
UTSW |
19 |
57,617,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9672:Atrnl1
|
UTSW |
19 |
57,618,695 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9673:Atrnl1
|
UTSW |
19 |
57,599,786 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
RF021:Atrnl1
|
UTSW |
19 |
57,630,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTTTCCAAAATGTAGTGTGTG -3'
(R):5'- AGGATGCTCCCAACCATTAAAG -3'
Sequencing Primer
(F):5'- TGTGAGTAAGTTAAAGAACTGATGC -3'
(R):5'- CACAGATATGGTATTCCTGTATGCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation