Incidental Mutation 'IGL01154:Gm10801'
ID |
278225 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm10801
|
Ensembl Gene |
ENSMUSG00000075015 |
Gene Name |
predicted gene 10801 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.366)
|
Stock # |
IGL01154
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
98492582-98494428 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 98494328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 135
(Y135F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097276
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099683]
[ENSMUST00000099684]
|
AlphaFold |
F7C7Q0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099683
|
SMART Domains |
Protein: ENSMUSP00000097275 Gene: ENSMUSG00000075014
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
41 |
1.13e-5 |
PROSPERO |
internal_repeat_2
|
26 |
49 |
4.11e-5 |
PROSPERO |
transmembrane domain
|
78 |
96 |
N/A |
INTRINSIC |
internal_repeat_1
|
114 |
174 |
1.13e-5 |
PROSPERO |
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
internal_repeat_2
|
197 |
219 |
4.11e-5 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099684
AA Change: Y135F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097276 Gene: ENSMUSG00000075015 AA Change: Y135F
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
2 |
73 |
1.19e-13 |
PROSPERO |
internal_repeat_1
|
80 |
167 |
1.19e-13 |
PROSPERO |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
2210408I21Rik |
T |
G |
13: 77,429,213 (GRCm39) |
F767V |
probably benign |
Het |
A2m |
C |
A |
6: 121,650,501 (GRCm39) |
S1203* |
probably null |
Het |
Abcc3 |
T |
C |
11: 94,250,058 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
T |
C |
2: 26,896,206 (GRCm39) |
Y1200H |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,356,237 (GRCm39) |
D51G |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
Arap3 |
A |
T |
18: 38,129,787 (GRCm39) |
S125T |
probably benign |
Het |
Atp2b1 |
T |
A |
10: 98,832,750 (GRCm39) |
V417E |
probably damaging |
Het |
Bpifa1 |
T |
A |
2: 153,985,920 (GRCm39) |
D78E |
probably benign |
Het |
Catsperb |
C |
A |
12: 101,591,940 (GRCm39) |
A1090E |
possibly damaging |
Het |
Ceacam9 |
C |
A |
7: 16,457,886 (GRCm39) |
T138K |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,412,530 (GRCm39) |
E244D |
probably benign |
Het |
Cep135 |
A |
T |
5: 76,754,643 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Col15a1 |
A |
C |
4: 47,208,450 (GRCm39) |
T6P |
possibly damaging |
Het |
Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
T |
15: 28,458,802 (GRCm39) |
T4480S |
possibly damaging |
Het |
Fastkd1 |
T |
C |
2: 69,520,404 (GRCm39) |
|
probably null |
Het |
Flt1 |
A |
G |
5: 147,512,966 (GRCm39) |
Y1124H |
possibly damaging |
Het |
Fsd1l |
A |
G |
4: 53,701,074 (GRCm39) |
M469V |
probably benign |
Het |
Fxr2 |
T |
C |
11: 69,532,259 (GRCm39) |
|
probably benign |
Het |
Grm4 |
A |
T |
17: 27,653,711 (GRCm39) |
C699* |
probably null |
Het |
Hcn4 |
A |
G |
9: 58,766,362 (GRCm39) |
T677A |
unknown |
Het |
Igkv9-123 |
G |
T |
6: 67,931,518 (GRCm39) |
|
probably benign |
Het |
Irf4 |
T |
A |
13: 30,941,404 (GRCm39) |
H253Q |
possibly damaging |
Het |
Jakmip2 |
T |
C |
18: 43,723,744 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,489,397 (GRCm39) |
V1134A |
probably damaging |
Het |
Limch1 |
G |
T |
5: 66,903,301 (GRCm39) |
E17* |
probably null |
Het |
Nap1l1 |
T |
A |
10: 111,322,536 (GRCm39) |
N72K |
probably damaging |
Het |
Or4x11 |
T |
C |
2: 89,867,812 (GRCm39) |
L183P |
probably damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,046 (GRCm39) |
S115P |
probably damaging |
Het |
Otud6b |
A |
T |
4: 14,811,732 (GRCm39) |
Y304N |
probably damaging |
Het |
Pdcd10 |
A |
C |
3: 75,448,540 (GRCm39) |
M8R |
probably damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,173,660 (GRCm39) |
T404A |
probably damaging |
Het |
Ppp2r2d |
C |
T |
7: 138,483,940 (GRCm39) |
A197V |
probably benign |
Het |
Psg25 |
C |
T |
7: 18,258,624 (GRCm39) |
D351N |
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,548,312 (GRCm39) |
I87N |
probably damaging |
Het |
Stfa2l1 |
C |
T |
16: 35,980,307 (GRCm39) |
|
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,695,349 (GRCm39) |
D107E |
probably damaging |
Het |
Syne1 |
G |
T |
10: 5,310,848 (GRCm39) |
F576L |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,924,328 (GRCm39) |
F357S |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,932,371 (GRCm39) |
L1741P |
probably damaging |
Het |
Tgs1 |
A |
T |
4: 3,585,473 (GRCm39) |
K117* |
probably null |
Het |
Tram1 |
C |
T |
1: 13,649,673 (GRCm39) |
|
probably null |
Het |
Trank1 |
T |
A |
9: 111,215,468 (GRCm39) |
D1799E |
probably benign |
Het |
Ttc14 |
A |
T |
3: 33,857,248 (GRCm39) |
Y198F |
probably benign |
Het |
Ube3b |
A |
G |
5: 114,544,313 (GRCm39) |
N570S |
probably null |
Het |
Ube4b |
A |
G |
4: 149,449,927 (GRCm39) |
F412S |
probably benign |
Het |
Vac14 |
T |
C |
8: 111,380,239 (GRCm39) |
|
probably benign |
Het |
Vmn2r65 |
T |
C |
7: 84,592,729 (GRCm39) |
T493A |
probably benign |
Het |
Zfp408 |
T |
C |
2: 91,478,351 (GRCm39) |
|
probably benign |
Het |
Zfp580 |
C |
T |
7: 5,056,267 (GRCm39) |
T209I |
possibly damaging |
Het |
|
Other mutations in Gm10801 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01100:Gm10801
|
APN |
2 |
98,494,328 (GRCm39) |
missense |
probably benign |
|
Haplo
|
UTSW |
2 |
98,494,252 (GRCm39) |
splice site |
probably benign |
|
Ladder
|
UTSW |
2 |
98,494,246 (GRCm39) |
splice site |
probably null |
|
PIT4131001:Gm10801
|
UTSW |
2 |
98,492,648 (GRCm39) |
missense |
probably benign |
|
PIT4142001:Gm10801
|
UTSW |
2 |
98,492,648 (GRCm39) |
missense |
probably benign |
|
R0026:Gm10801
|
UTSW |
2 |
98,494,254 (GRCm39) |
splice site |
probably benign |
|
R0063:Gm10801
|
UTSW |
2 |
98,494,185 (GRCm39) |
missense |
probably benign |
0.30 |
R0334:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0335:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1172:Gm10801
|
UTSW |
2 |
98,494,252 (GRCm39) |
splice site |
probably benign |
|
R1321:Gm10801
|
UTSW |
2 |
98,494,252 (GRCm39) |
splice site |
probably benign |
|
R1871:Gm10801
|
UTSW |
2 |
98,494,185 (GRCm39) |
missense |
probably benign |
0.30 |
R1924:Gm10801
|
UTSW |
2 |
98,494,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R2163:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2306:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2379:Gm10801
|
UTSW |
2 |
98,494,185 (GRCm39) |
missense |
probably benign |
0.30 |
R3078:Gm10801
|
UTSW |
2 |
98,494,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R3605:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3892:Gm10801
|
UTSW |
2 |
98,494,246 (GRCm39) |
splice site |
probably null |
|
R3930:Gm10801
|
UTSW |
2 |
98,494,361 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4638:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4709:Gm10801
|
UTSW |
2 |
98,494,246 (GRCm39) |
splice site |
probably null |
|
R5390:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R5405:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R5535:Gm10801
|
UTSW |
2 |
98,492,844 (GRCm39) |
frame shift |
probably null |
|
R5653:Gm10801
|
UTSW |
2 |
98,494,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R5747:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5987:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6086:Gm10801
|
UTSW |
2 |
98,494,148 (GRCm39) |
nonsense |
probably null |
|
R6090:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R6093:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6112:Gm10801
|
UTSW |
2 |
98,494,409 (GRCm39) |
missense |
probably benign |
0.00 |
R6184:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R6352:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R6357:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
frame shift |
probably null |
|
R6395:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
small insertion |
probably benign |
|
R6514:Gm10801
|
UTSW |
2 |
98,494,214 (GRCm39) |
missense |
probably benign |
0.19 |
R6547:Gm10801
|
UTSW |
2 |
98,494,148 (GRCm39) |
nonsense |
probably null |
|
R6560:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6640:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6675:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R6679:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R6684:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6758:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6786:Gm10801
|
UTSW |
2 |
98,494,148 (GRCm39) |
nonsense |
probably null |
|
R6886:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R7783:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R8032:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R8684:Gm10801
|
UTSW |
2 |
98,492,669 (GRCm39) |
frame shift |
probably null |
|
R8831:Gm10801
|
UTSW |
2 |
98,494,334 (GRCm39) |
missense |
probably damaging |
0.96 |
R8843:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R8946:Gm10801
|
UTSW |
2 |
98,492,669 (GRCm39) |
frame shift |
probably null |
|
R9135:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R9136:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R9423:Gm10801
|
UTSW |
2 |
98,494,148 (GRCm39) |
nonsense |
probably null |
|
R9773:Gm10801
|
UTSW |
2 |
98,494,345 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |