Incidental Mutation 'R6886:Gm10801'
| ID |
536936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10801
|
| Ensembl Gene |
ENSMUSG00000075015 |
| Gene Name |
predicted gene 10801 |
| Synonyms |
|
| MMRRC Submission |
044980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
R6886 (G1)
|
| Quality Score |
124.467 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
98492582-98494428 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
TC to TCGGC
at 98494151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000097276
Gene: ENSMUSG00000075015
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp7b |
A |
T |
8: 22,518,706 (GRCm39) |
M44K |
probably benign |
Het |
| Bad |
T |
C |
19: 6,928,702 (GRCm39) |
|
probably benign |
Het |
| Bbs12 |
A |
G |
3: 37,373,390 (GRCm39) |
D61G |
probably damaging |
Het |
| Bcr |
C |
T |
10: 74,989,769 (GRCm39) |
R722C |
probably damaging |
Het |
| Carf |
C |
A |
1: 60,175,413 (GRCm39) |
|
probably null |
Het |
| Ccdc181 |
A |
G |
1: 164,107,665 (GRCm39) |
E116G |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,915,855 (GRCm39) |
V706A |
probably benign |
Het |
| Col9a1 |
T |
A |
1: 24,224,426 (GRCm39) |
S203T |
unknown |
Het |
| Ctsl |
T |
C |
13: 64,512,961 (GRCm39) |
|
probably null |
Het |
| Exosc7 |
A |
T |
9: 122,965,023 (GRCm39) |
E277D |
probably benign |
Het |
| Fam20b |
A |
T |
1: 156,518,081 (GRCm39) |
W238R |
probably damaging |
Het |
| Fanci |
A |
T |
7: 79,070,090 (GRCm39) |
H430L |
possibly damaging |
Het |
| Fstl4 |
A |
G |
11: 53,077,277 (GRCm39) |
D678G |
probably damaging |
Het |
| Gm11569 |
T |
A |
11: 99,689,247 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,901,198 (GRCm39) |
R306W |
probably damaging |
Het |
| Il6 |
C |
T |
5: 30,223,201 (GRCm39) |
|
probably benign |
Het |
| Khdc1c |
T |
C |
1: 21,439,749 (GRCm39) |
L100P |
possibly damaging |
Het |
| Kif18a |
G |
A |
2: 109,127,008 (GRCm39) |
R314H |
probably damaging |
Het |
| Kif26b |
A |
C |
1: 178,701,703 (GRCm39) |
K694T |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,493,485 (GRCm39) |
T484A |
probably benign |
Het |
| Lonrf1 |
T |
C |
8: 36,696,191 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
C |
T |
3: 100,563,387 (GRCm39) |
G169D |
probably benign |
Het |
| Med6 |
G |
T |
12: 81,638,159 (GRCm39) |
D17E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,110,236 (GRCm39) |
K204R |
probably damaging |
Het |
| Nhlrc1 |
T |
A |
13: 47,167,252 (GRCm39) |
N335I |
possibly damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,313 (GRCm39) |
M400V |
probably benign |
Het |
| Or7e173 |
G |
T |
9: 19,938,428 (GRCm39) |
H269N |
probably benign |
Het |
| Or8k22 |
A |
T |
2: 86,163,408 (GRCm39) |
C97* |
probably null |
Het |
| Pkhd1 |
C |
T |
1: 20,417,504 (GRCm39) |
S2549N |
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,539,332 (GRCm39) |
F54L |
probably benign |
Het |
| Rab4b |
A |
C |
7: 26,872,381 (GRCm39) |
L145R |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,577,011 (GRCm39) |
I526V |
probably benign |
Het |
| Rel |
T |
C |
11: 23,694,304 (GRCm39) |
H309R |
probably benign |
Het |
| Rnf2 |
G |
T |
1: 151,349,017 (GRCm39) |
N34K |
possibly damaging |
Het |
| Serpina3m |
G |
T |
12: 104,355,386 (GRCm39) |
V18F |
possibly damaging |
Het |
| Serpinb9c |
T |
C |
13: 33,334,310 (GRCm39) |
K244R |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,900,715 (GRCm39) |
Y984F |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,824,825 (GRCm39) |
M410K |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,570,127 (GRCm39) |
A710V |
probably damaging |
Het |
| Snx19 |
C |
A |
9: 30,340,231 (GRCm39) |
D456E |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,870,280 (GRCm39) |
D101E |
probably benign |
Het |
| Tax1bp1 |
A |
T |
6: 52,710,208 (GRCm39) |
E162D |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,446,599 (GRCm39) |
M823K |
possibly damaging |
Het |
| Tesk1 |
A |
G |
4: 43,443,592 (GRCm39) |
D53G |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,786,668 (GRCm39) |
S1577T |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,299,716 (GRCm39) |
I1270V |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,256,608 (GRCm39) |
|
probably null |
Het |
| Ube4a |
A |
T |
9: 44,860,141 (GRCm39) |
I307N |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,170,156 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,166,927 (GRCm39) |
K735E |
probably damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,080 (GRCm39) |
F285L |
probably benign |
Het |
| Vmn2r81 |
T |
G |
10: 79,103,988 (GRCm39) |
S204A |
possibly damaging |
Het |
| Washc1 |
A |
G |
17: 66,426,061 (GRCm39) |
D453G |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,544,025 (GRCm39) |
I500L |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 82,975,125 (GRCm39) |
D441G |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,785,777 (GRCm39) |
T257A |
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 |
|
|
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 |
|
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 |
|
|
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'- CATCTGTGTAGAAAGCTGTTGC -3'
(R):5'- CTTTCTCTAGCCCCGGAAAC -3'
Sequencing Primer
(F):5'- TGGCTCAATGGCAGAGTGC -3'
(R):5'- ATGCACACTGTAAGACCTGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation