Incidental Mutation 'R4638:Gm10801'
| ID |
350785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10801
|
| Ensembl Gene |
ENSMUSG00000075015 |
| Gene Name |
predicted gene 10801 |
| Synonyms |
|
| MMRRC Submission |
041900-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
R4638 (G1)
|
| Quality Score |
81 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
98492582-98494428 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 98494352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Threonine
at position 143
(R143T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000099684
AA Change: R143T
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097276
Gene: ENSMUSG00000075015
AA Change: R143T
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
91% (40/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
| Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
| Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
| Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
| Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
| Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
| Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
| Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
| Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
| Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
| Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
probably 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 |
|
|
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 |
|
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 |
|
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'- GCCCATCTGTGTAGAAAGCTG -3'
(R):5'- GTCTACTAAGGAGGCCACAAAC -3'
Sequencing Primer
(F):5'- CCAGGTCTTACAGTGTGCAC -3'
(R):5'- TCTACTAAGGAGGCCACAAACAACTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation