Incidental Mutation 'R0026:Gm10801'
ID |
262070 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm10801
|
Ensembl Gene |
ENSMUSG00000075015 |
Gene Name |
predicted gene 10801 |
Synonyms |
|
MMRRC Submission |
038321-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.332)
|
Stock # |
R0026 (G1)
|
Quality Score |
28 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
98492582-98494428 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 98494254 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: 99.3%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
Validation Efficiency |
93% (70/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,772,566 (GRCm39) |
I585N |
possibly damaging |
Het |
A830005F24Rik |
C |
T |
13: 48,667,848 (GRCm39) |
|
probably benign |
Het |
Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
Adam19 |
G |
T |
11: 46,027,086 (GRCm39) |
C573F |
probably damaging |
Het |
Aff3 |
A |
G |
1: 38,242,974 (GRCm39) |
S948P |
probably benign |
Het |
Anxa3 |
T |
A |
5: 96,986,260 (GRCm39) |
Y300N |
probably benign |
Het |
BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
Casq1 |
T |
C |
1: 172,046,967 (GRCm39) |
|
probably benign |
Het |
Cdc16 |
T |
A |
8: 13,809,130 (GRCm39) |
|
probably null |
Het |
Cep135 |
C |
T |
5: 76,754,581 (GRCm39) |
R353* |
probably null |
Het |
Cma1 |
A |
T |
14: 56,179,621 (GRCm39) |
C188S |
probably damaging |
Het |
Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
Dbn1 |
T |
C |
13: 55,625,597 (GRCm39) |
E275G |
probably damaging |
Het |
Dlgap2 |
C |
T |
8: 14,777,363 (GRCm39) |
Q203* |
probably null |
Het |
Ephb3 |
A |
G |
16: 21,033,667 (GRCm39) |
D251G |
probably damaging |
Het |
Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
Got1l1 |
C |
T |
8: 27,690,276 (GRCm39) |
V132I |
probably benign |
Het |
H2-M9 |
T |
C |
17: 36,952,419 (GRCm39) |
|
probably benign |
Het |
Ibtk |
A |
G |
9: 85,572,356 (GRCm39) |
V1278A |
probably benign |
Het |
Kctd3 |
T |
C |
1: 188,708,818 (GRCm39) |
T519A |
probably damaging |
Het |
Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
Map1s |
G |
A |
8: 71,367,282 (GRCm39) |
G729D |
probably damaging |
Het |
Mlycd |
A |
G |
8: 120,137,174 (GRCm39) |
I465V |
probably benign |
Het |
Mrgprb1 |
T |
C |
7: 48,096,952 (GRCm39) |
R108G |
possibly damaging |
Het |
Mrgprx2 |
T |
A |
7: 48,131,771 (GRCm39) |
H106L |
possibly damaging |
Het |
Ncor1 |
T |
C |
11: 62,329,255 (GRCm39) |
Y6C |
probably damaging |
Het |
Nfkb1 |
T |
C |
3: 135,297,334 (GRCm39) |
D773G |
probably damaging |
Het |
Nxnl1 |
A |
G |
8: 72,019,217 (GRCm39) |
S3P |
probably damaging |
Het |
Or12d17 |
T |
A |
17: 37,777,694 (GRCm39) |
V199D |
probably damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,892 (GRCm39) |
V114I |
probably benign |
Het |
Otud7a |
T |
C |
7: 63,385,549 (GRCm39) |
F338L |
probably benign |
Het |
Pdcl3 |
T |
A |
1: 39,030,361 (GRCm39) |
L14Q |
probably damaging |
Het |
Pla2g7 |
T |
A |
17: 43,905,821 (GRCm39) |
|
probably benign |
Het |
Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
Rapgef5 |
T |
C |
12: 117,652,896 (GRCm39) |
S307P |
probably benign |
Het |
Relt |
C |
A |
7: 100,499,428 (GRCm39) |
E164* |
probably null |
Het |
Rnf185 |
T |
C |
11: 3,376,617 (GRCm39) |
D86G |
probably damaging |
Het |
Rrm2b |
T |
C |
15: 37,953,985 (GRCm39) |
E21G |
probably benign |
Het |
Scn5a |
A |
G |
9: 119,351,632 (GRCm39) |
I783T |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,403,665 (GRCm39) |
|
probably benign |
Het |
Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
Slc5a2 |
T |
A |
7: 127,869,225 (GRCm39) |
I335N |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
Sstr1 |
T |
A |
12: 58,259,644 (GRCm39) |
M89K |
probably damaging |
Het |
Szt2 |
A |
T |
4: 118,241,969 (GRCm39) |
S1612R |
possibly damaging |
Het |
Taf1c |
T |
C |
8: 120,330,975 (GRCm39) |
|
probably null |
Het |
Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
Tmem125 |
A |
G |
4: 118,399,270 (GRCm39) |
S54P |
possibly damaging |
Het |
Ttf1 |
T |
A |
2: 28,961,361 (GRCm39) |
I583N |
possibly damaging |
Het |
Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
Unc5b |
A |
T |
10: 60,610,371 (GRCm39) |
I482N |
possibly damaging |
Het |
Unc80 |
C |
A |
1: 66,560,743 (GRCm39) |
Q824K |
probably benign |
Het |
Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
Vmn2r61 |
T |
G |
7: 41,924,898 (GRCm39) |
I484R |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGCAGAGCTACTGAGCGAAAGTC -3'
(R):5'- GCAAACTTTCTCTAGCCCCGGAAAC -3'
Sequencing Primer
(F):5'- ttccacctttttcagttttcctc -3'
(R):5'- CCCGGAAACCTTGAGGAATA -3'
|
Posted On |
2015-02-04 |