Incidental Mutation 'R3078:Gm10801'
ID |
332770 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm10801
|
Ensembl Gene |
ENSMUSG00000075015 |
Gene Name |
predicted gene 10801 |
Synonyms |
|
MMRRC Submission |
040568-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.366)
|
Stock # |
R3078 (G1)
|
Quality Score |
26 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
98492582-98494428 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98494197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 113
(I113T)
|
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 damaging
Transcript: ENSMUST00000099684
AA Change: I113T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000097276 Gene: ENSMUSG00000075015 AA Change: I113T
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
2 |
73 |
1.19e-13 |
PROSPERO |
internal_repeat_1
|
80 |
167 |
1.19e-13 |
PROSPERO |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
93% (42/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
Actr3b |
A |
G |
5: 26,027,440 (GRCm39) |
Y37C |
probably damaging |
Het |
Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
Alg10b |
T |
C |
15: 90,112,139 (GRCm39) |
S328P |
probably benign |
Het |
C5ar2 |
G |
A |
7: 15,971,349 (GRCm39) |
R193C |
probably damaging |
Het |
Cct8 |
A |
G |
16: 87,285,765 (GRCm39) |
V231A |
possibly damaging |
Het |
Clca4a |
C |
T |
3: 144,674,014 (GRCm39) |
M240I |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,185,435 (GRCm39) |
I3520N |
probably damaging |
Het |
Dock6 |
G |
T |
9: 21,757,050 (GRCm39) |
|
probably benign |
Het |
Dynlrb1 |
T |
A |
2: 155,091,865 (GRCm39) |
I99N |
probably damaging |
Het |
Ebf4 |
G |
A |
2: 130,148,419 (GRCm39) |
D77N |
probably damaging |
Het |
Fbxw10 |
C |
T |
11: 62,758,339 (GRCm39) |
|
probably benign |
Het |
Gm5499 |
T |
C |
17: 87,386,314 (GRCm39) |
|
noncoding transcript |
Het |
Gm9913 |
A |
G |
2: 125,348,459 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,786,991 (GRCm39) |
N1612S |
probably benign |
Het |
Ifnar2 |
T |
C |
16: 91,182,889 (GRCm39) |
S53P |
possibly damaging |
Het |
Inpp5j |
T |
A |
11: 3,453,124 (GRCm39) |
|
probably null |
Het |
Insyn2a |
A |
G |
7: 134,519,750 (GRCm39) |
I260T |
probably benign |
Het |
Iqca1l |
G |
C |
5: 24,751,664 (GRCm39) |
T528S |
probably benign |
Het |
Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
Med28 |
A |
G |
5: 45,679,820 (GRCm39) |
T68A |
possibly damaging |
Het |
Meis1 |
A |
T |
11: 18,961,254 (GRCm39) |
N206K |
probably benign |
Het |
Mfsd14a |
T |
C |
3: 116,441,566 (GRCm39) |
|
probably benign |
Het |
Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
Mto1 |
A |
G |
9: 78,365,310 (GRCm39) |
Y413C |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,100,237 (GRCm39) |
D1599G |
probably benign |
Het |
Myoz1 |
T |
C |
14: 20,703,685 (GRCm39) |
|
probably benign |
Het |
Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
Npr2 |
T |
A |
4: 43,640,182 (GRCm39) |
Y306N |
probably damaging |
Het |
Nrxn3 |
T |
G |
12: 89,227,186 (GRCm39) |
C274G |
probably damaging |
Het |
Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
Or5ac22 |
A |
T |
16: 59,135,089 (GRCm39) |
M227K |
probably benign |
Het |
Phldb2 |
T |
C |
16: 45,645,373 (GRCm39) |
T403A |
probably benign |
Het |
Plaa |
T |
C |
4: 94,458,042 (GRCm39) |
I643V |
probably benign |
Het |
Slc28a2b |
T |
C |
2: 122,344,895 (GRCm39) |
L167P |
possibly damaging |
Het |
Stau1 |
T |
C |
2: 166,796,936 (GRCm39) |
I154V |
possibly damaging |
Het |
Ugcg |
T |
G |
4: 59,213,922 (GRCm39) |
V168G |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,042,053 (GRCm39) |
I221V |
probably benign |
Het |
Wdr93 |
T |
C |
7: 79,402,241 (GRCm39) |
I180T |
possibly damaging |
Het |
Whamm |
G |
C |
7: 81,221,532 (GRCm39) |
G155R |
probably damaging |
Het |
Wnt5a |
T |
A |
14: 28,235,140 (GRCm39) |
Y41* |
probably null |
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 |
|
IGL01154: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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATCTGTGTAGAAAGCTGTTGCTC -3'
(R):5'- TTTCTCTAGCCCCGGAAACC -3'
Sequencing Primer
(F):5'- TGGCTCAATGGCAGAGTGC -3'
(R):5'- CCCCGGAAACCTTGAGGAATATG -3'
|
Posted On |
2015-08-17 |