Incidental Mutation 'PIT4651001:2210408I21Rik'
ID |
556694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2210408I21Rik
|
Ensembl Gene |
ENSMUSG00000071252 |
Gene Name |
RIKEN cDNA 2210408I21 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4651001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
77283659-77761903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77408014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 428
(I428L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168779]
[ENSMUST00000225760]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168779
AA Change: I428L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127449 Gene: ENSMUSG00000071252 AA Change: I428L
Domain | Start | End | E-Value | Type |
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
low complexity region
|
151 |
164 |
N/A |
INTRINSIC |
Pfam:DUF4495
|
515 |
832 |
1.6e-140 |
PFAM |
low complexity region
|
1241 |
1255 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225760
AA Change: I114L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 70.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
C |
6: 23,118,750 (GRCm39) |
I131V |
probably benign |
Het |
Alcam |
T |
A |
16: 52,115,550 (GRCm39) |
K189N |
probably benign |
Het |
Ankrd50 |
C |
A |
3: 38,509,959 (GRCm39) |
E803* |
probably null |
Het |
Ankrd53 |
A |
G |
6: 83,742,715 (GRCm39) |
D236G |
probably damaging |
Het |
Bard1 |
A |
G |
1: 71,114,087 (GRCm39) |
V298A |
probably benign |
Het |
Cacna1d |
C |
T |
14: 29,900,602 (GRCm39) |
G361D |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,916,647 (GRCm39) |
S82G |
probably benign |
Het |
Ccr4 |
A |
T |
9: 114,321,261 (GRCm39) |
V268E |
probably benign |
Het |
Cdh6 |
G |
A |
15: 13,044,805 (GRCm39) |
S439L |
possibly damaging |
Het |
Ces1e |
G |
T |
8: 93,941,711 (GRCm39) |
A254E |
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,225,467 (GRCm39) |
T1078A |
|
Het |
Cyp46a1 |
A |
G |
12: 108,319,367 (GRCm39) |
D288G |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,037,243 (GRCm39) |
N3333S |
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,765,241 (GRCm39) |
V491A |
probably benign |
Het |
Egr1 |
G |
T |
18: 34,996,240 (GRCm39) |
E341* |
probably null |
Het |
Enpp1 |
G |
A |
10: 24,529,848 (GRCm39) |
P597S |
probably benign |
Het |
Ercc3 |
A |
T |
18: 32,373,365 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,205,909 (GRCm39) |
|
probably null |
Het |
Fbxw11 |
T |
C |
11: 32,661,999 (GRCm39) |
|
probably null |
Het |
Fhip1a |
C |
T |
3: 85,590,948 (GRCm39) |
A389T |
probably damaging |
Het |
Gbf1 |
A |
G |
19: 46,151,982 (GRCm39) |
N5S |
probably benign |
Het |
Gbp4 |
T |
A |
5: 105,266,289 (GRCm39) |
H584L |
probably benign |
Het |
Gcgr |
G |
T |
11: 120,428,968 (GRCm39) |
C402F |
probably damaging |
Het |
Grm7 |
T |
A |
6: 110,623,050 (GRCm39) |
N74K |
probably benign |
Het |
H1f9 |
A |
G |
11: 94,859,142 (GRCm39) |
S146G |
probably benign |
Het |
Hoxa10 |
T |
G |
6: 52,211,877 (GRCm39) |
N13T |
possibly damaging |
Het |
Ice1 |
A |
T |
13: 70,772,040 (GRCm39) |
|
probably null |
Het |
Il22 |
C |
A |
10: 118,041,495 (GRCm39) |
N69K |
probably damaging |
Het |
Il9r |
A |
T |
11: 32,141,798 (GRCm39) |
H319Q |
probably benign |
Het |
Itgax |
A |
G |
7: 127,748,282 (GRCm39) |
T1104A |
probably benign |
Het |
Jag1 |
C |
T |
2: 136,943,617 (GRCm39) |
G193D |
probably damaging |
Het |
Krt13 |
T |
A |
11: 100,010,862 (GRCm39) |
D164V |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,649,194 (GRCm39) |
M865T |
probably damaging |
Het |
Lmf2 |
G |
A |
15: 89,236,272 (GRCm39) |
H576Y |
possibly damaging |
Het |
Lrrc8c |
C |
T |
5: 105,756,189 (GRCm39) |
H655Y |
probably benign |
Het |
Mapk6 |
A |
T |
9: 75,304,869 (GRCm39) |
S183T |
possibly damaging |
Het |
Mcrs1 |
A |
T |
15: 99,144,832 (GRCm39) |
Y261N |
probably damaging |
Het |
Mon1b |
G |
A |
8: 114,365,254 (GRCm39) |
G194D |
probably benign |
Het |
Myo18b |
C |
T |
5: 112,982,301 (GRCm39) |
R1144Q |
probably benign |
Het |
Myo9b |
T |
A |
8: 71,795,456 (GRCm39) |
H808Q |
possibly damaging |
Het |
Ngdn |
T |
C |
14: 55,253,657 (GRCm39) |
I15T |
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,284,183 (GRCm39) |
S41R |
probably damaging |
Het |
Numa1 |
A |
T |
7: 101,663,141 (GRCm39) |
K2089M |
probably damaging |
Het |
Obi1 |
T |
A |
14: 104,743,692 (GRCm39) |
D129V |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,932,507 (GRCm39) |
L4900P |
probably damaging |
Het |
Olfm4 |
T |
A |
14: 80,258,925 (GRCm39) |
L391Q |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,917,526 (GRCm39) |
C240S |
probably damaging |
Het |
Or2ag1 |
A |
G |
7: 106,472,730 (GRCm39) |
C241R |
probably damaging |
Het |
Or5b106 |
T |
A |
19: 13,123,991 (GRCm39) |
I11F |
probably benign |
Het |
Or5b111 |
A |
G |
19: 13,291,556 (GRCm39) |
I31T |
probably benign |
Het |
Or5m9 |
T |
C |
2: 85,876,862 (GRCm39) |
L12P |
probably damaging |
Het |
Parn |
T |
A |
16: 13,449,431 (GRCm39) |
N302Y |
probably benign |
Het |
Pi4k2b |
T |
G |
5: 52,905,812 (GRCm39) |
S118A |
possibly damaging |
Het |
Piwil4 |
C |
T |
9: 14,620,195 (GRCm39) |
V704I |
possibly damaging |
Het |
Pm20d2 |
G |
A |
4: 33,181,715 (GRCm39) |
T296M |
probably damaging |
Het |
Pmpcb |
C |
T |
5: 21,951,048 (GRCm39) |
A270V |
probably benign |
Het |
Pnpt1 |
T |
C |
11: 29,106,945 (GRCm39) |
|
probably null |
Het |
Prkn |
T |
A |
17: 11,286,130 (GRCm39) |
L41Q |
probably damaging |
Het |
Rc3h1 |
C |
A |
1: 160,791,110 (GRCm39) |
N931K |
probably benign |
Het |
Rlf |
A |
G |
4: 121,007,510 (GRCm39) |
V600A |
probably damaging |
Het |
Rpl27rt |
A |
T |
18: 34,870,892 (GRCm39) |
Q142L |
unknown |
Het |
Sall1 |
T |
G |
8: 89,757,731 (GRCm39) |
Q791P |
probably damaging |
Het |
Sema3c |
T |
A |
5: 17,899,731 (GRCm39) |
Y408N |
probably benign |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Tmem181a |
A |
T |
17: 6,351,170 (GRCm39) |
M319L |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,877,667 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,719,278 (GRCm39) |
T7234S |
unknown |
Het |
Unc13c |
T |
A |
9: 73,391,021 (GRCm39) |
M2076L |
possibly damaging |
Het |
Uroc1 |
C |
T |
6: 90,340,095 (GRCm39) |
R667* |
probably null |
Het |
Uvrag |
A |
G |
7: 98,555,727 (GRCm39) |
F456L |
probably benign |
Het |
Vmn1r215 |
T |
C |
13: 23,260,530 (GRCm39) |
V190A |
probably damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,771,659 (GRCm39) |
T681S |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,595,461 (GRCm39) |
T408S |
probably benign |
Het |
Vps33b |
A |
G |
7: 79,939,755 (GRCm39) |
D502G |
probably damaging |
Het |
|
Other mutations in 2210408I21Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:2210408I21Rik
|
APN |
13 |
77,471,477 (GRCm39) |
splice site |
probably benign |
|
IGL01154:2210408I21Rik
|
APN |
13 |
77,429,213 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01461:2210408I21Rik
|
APN |
13 |
77,429,214 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01624:2210408I21Rik
|
APN |
13 |
77,341,205 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02033:2210408I21Rik
|
APN |
13 |
77,407,995 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02621:2210408I21Rik
|
APN |
13 |
77,408,150 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02718:2210408I21Rik
|
APN |
13 |
77,322,991 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02823:2210408I21Rik
|
APN |
13 |
77,410,074 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02859:2210408I21Rik
|
APN |
13 |
77,415,818 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03006:2210408I21Rik
|
APN |
13 |
77,471,891 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03072:2210408I21Rik
|
APN |
13 |
77,408,116 (GRCm39) |
missense |
probably benign |
|
IGL03184:2210408I21Rik
|
APN |
13 |
77,471,570 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL03275:2210408I21Rik
|
APN |
13 |
77,446,674 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0226:2210408I21Rik
|
UTSW |
13 |
77,451,544 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0323:2210408I21Rik
|
UTSW |
13 |
77,446,674 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0614:2210408I21Rik
|
UTSW |
13 |
77,340,782 (GRCm39) |
missense |
probably benign |
0.26 |
R0894:2210408I21Rik
|
UTSW |
13 |
77,471,726 (GRCm39) |
missense |
probably benign |
0.18 |
R1165:2210408I21Rik
|
UTSW |
13 |
77,482,406 (GRCm39) |
missense |
probably benign |
0.06 |
R1509:2210408I21Rik
|
UTSW |
13 |
77,340,766 (GRCm39) |
missense |
probably benign |
|
R1711:2210408I21Rik
|
UTSW |
13 |
77,418,039 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1714:2210408I21Rik
|
UTSW |
13 |
77,464,479 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1718:2210408I21Rik
|
UTSW |
13 |
77,393,489 (GRCm39) |
intron |
probably benign |
|
R1836:2210408I21Rik
|
UTSW |
13 |
77,471,493 (GRCm39) |
missense |
probably benign |
0.00 |
R1893:2210408I21Rik
|
UTSW |
13 |
77,415,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2035:2210408I21Rik
|
UTSW |
13 |
77,760,761 (GRCm39) |
makesense |
probably null |
|
R2329:2210408I21Rik
|
UTSW |
13 |
77,451,444 (GRCm39) |
missense |
probably benign |
0.04 |
R2897:2210408I21Rik
|
UTSW |
13 |
77,471,640 (GRCm39) |
missense |
probably benign |
0.33 |
R3688:2210408I21Rik
|
UTSW |
13 |
77,415,968 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4153:2210408I21Rik
|
UTSW |
13 |
77,341,292 (GRCm39) |
missense |
probably benign |
0.00 |
R4387:2210408I21Rik
|
UTSW |
13 |
77,464,693 (GRCm39) |
critical splice donor site |
probably null |
|
R4388:2210408I21Rik
|
UTSW |
13 |
77,464,693 (GRCm39) |
critical splice donor site |
probably null |
|
R4499:2210408I21Rik
|
UTSW |
13 |
77,464,646 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4614:2210408I21Rik
|
UTSW |
13 |
77,402,375 (GRCm39) |
splice site |
probably null |
|
R4798:2210408I21Rik
|
UTSW |
13 |
77,471,843 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4943:2210408I21Rik
|
UTSW |
13 |
77,393,446 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5045:2210408I21Rik
|
UTSW |
13 |
77,415,927 (GRCm39) |
splice site |
probably null |
|
R5387:2210408I21Rik
|
UTSW |
13 |
77,408,092 (GRCm39) |
missense |
probably benign |
0.11 |
R5500:2210408I21Rik
|
UTSW |
13 |
77,451,508 (GRCm39) |
missense |
probably benign |
0.33 |
R5686:2210408I21Rik
|
UTSW |
13 |
77,451,433 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6111:2210408I21Rik
|
UTSW |
13 |
77,476,021 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6135:2210408I21Rik
|
UTSW |
13 |
77,402,335 (GRCm39) |
missense |
probably damaging |
0.98 |
R6188:2210408I21Rik
|
UTSW |
13 |
77,331,850 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6388:2210408I21Rik
|
UTSW |
13 |
77,410,230 (GRCm39) |
missense |
probably benign |
|
R6588:2210408I21Rik
|
UTSW |
13 |
77,340,766 (GRCm39) |
missense |
probably benign |
|
R6632:2210408I21Rik
|
UTSW |
13 |
77,429,186 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6638:2210408I21Rik
|
UTSW |
13 |
77,451,521 (GRCm39) |
missense |
probably benign |
0.07 |
R6755:2210408I21Rik
|
UTSW |
13 |
77,475,994 (GRCm39) |
missense |
probably benign |
|
R6971:2210408I21Rik
|
UTSW |
13 |
77,341,306 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7079:2210408I21Rik
|
UTSW |
13 |
77,402,323 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7130:2210408I21Rik
|
UTSW |
13 |
77,418,021 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7215:2210408I21Rik
|
UTSW |
13 |
77,471,690 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7272:2210408I21Rik
|
UTSW |
13 |
77,471,655 (GRCm39) |
missense |
probably benign |
0.00 |
R7331:2210408I21Rik
|
UTSW |
13 |
77,331,728 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7561:2210408I21Rik
|
UTSW |
13 |
77,341,314 (GRCm39) |
missense |
probably benign |
|
R7684:2210408I21Rik
|
UTSW |
13 |
77,760,659 (GRCm39) |
nonsense |
probably null |
|
R7728:2210408I21Rik
|
UTSW |
13 |
77,464,596 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7881:2210408I21Rik
|
UTSW |
13 |
77,471,685 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7963:2210408I21Rik
|
UTSW |
13 |
77,340,673 (GRCm39) |
missense |
probably benign |
0.02 |
R8008:2210408I21Rik
|
UTSW |
13 |
77,429,234 (GRCm39) |
missense |
probably benign |
0.28 |
R8024:2210408I21Rik
|
UTSW |
13 |
77,760,713 (GRCm39) |
missense |
probably benign |
|
R8170:2210408I21Rik
|
UTSW |
13 |
77,411,713 (GRCm39) |
missense |
probably benign |
0.06 |
R8201:2210408I21Rik
|
UTSW |
13 |
77,341,278 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8255:2210408I21Rik
|
UTSW |
13 |
77,415,850 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8296:2210408I21Rik
|
UTSW |
13 |
77,415,896 (GRCm39) |
missense |
probably damaging |
0.98 |
R8476:2210408I21Rik
|
UTSW |
13 |
77,410,020 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8526:2210408I21Rik
|
UTSW |
13 |
77,417,935 (GRCm39) |
nonsense |
probably null |
|
R8746:2210408I21Rik
|
UTSW |
13 |
77,451,529 (GRCm39) |
missense |
probably benign |
0.01 |
R8812:2210408I21Rik
|
UTSW |
13 |
77,480,471 (GRCm39) |
missense |
probably damaging |
0.98 |
R8870:2210408I21Rik
|
UTSW |
13 |
77,471,840 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8885:2210408I21Rik
|
UTSW |
13 |
77,471,525 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8910:2210408I21Rik
|
UTSW |
13 |
77,471,768 (GRCm39) |
missense |
probably benign |
0.03 |
R8911:2210408I21Rik
|
UTSW |
13 |
77,429,234 (GRCm39) |
missense |
probably benign |
0.28 |
R8965:2210408I21Rik
|
UTSW |
13 |
77,760,723 (GRCm39) |
missense |
probably benign |
0.02 |
R8968:2210408I21Rik
|
UTSW |
13 |
77,480,429 (GRCm39) |
nonsense |
probably null |
|
R8989:2210408I21Rik
|
UTSW |
13 |
77,760,724 (GRCm39) |
missense |
probably benign |
0.01 |
R9163:2210408I21Rik
|
UTSW |
13 |
77,393,400 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9378:2210408I21Rik
|
UTSW |
13 |
77,471,735 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9478:2210408I21Rik
|
UTSW |
13 |
77,451,573 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9523:2210408I21Rik
|
UTSW |
13 |
77,407,988 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9595:2210408I21Rik
|
UTSW |
13 |
77,464,566 (GRCm39) |
missense |
probably benign |
|
X0066:2210408I21Rik
|
UTSW |
13 |
77,331,759 (GRCm39) |
missense |
possibly damaging |
0.72 |
Z1088:2210408I21Rik
|
UTSW |
13 |
77,323,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGAGAGTCTATCAGAGGATGTC -3'
(R):5'- CCTTAGTAAGTGGCAATGGTTTGAAG -3'
Sequencing Primer
(F):5'- AGAGGATGTCTGTTTTCAATATGTTG -3'
(R):5'- GGCAATGGTTTGAAGAGATCTCATC -3'
|
Posted On |
2019-06-07 |