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: 0.291)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
28 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
98662237-98664083 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 98663909 bp (GRCm38)
|
| 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: 138,066,805 (GRCm38) |
I585N |
possibly damaging |
Het |
| 4931408C20Rik |
T |
A |
1: 26,683,369 (GRCm38) |
D910V |
probably benign |
Het |
| A830005F24Rik |
C |
T |
13: 48,514,372 (GRCm38) |
|
probably benign |
Het |
| Abca16 |
C |
T |
7: 120,477,923 (GRCm38) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,236 (GRCm38) |
L140F |
probably benign |
Het |
| Adam19 |
G |
T |
11: 46,136,259 (GRCm38) |
C573F |
probably damaging |
Het |
| Aff3 |
A |
G |
1: 38,203,893 (GRCm38) |
S948P |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,838,401 (GRCm38) |
Y300N |
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,640,367 (GRCm38) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,870,733 (GRCm38) |
L113P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,219,400 (GRCm38) |
|
probably benign |
Het |
| Cdc16 |
T |
A |
8: 13,759,130 (GRCm38) |
|
probably null |
Het |
| Cep135 |
C |
T |
5: 76,606,734 (GRCm38) |
R353* |
probably null |
Het |
| Cma1 |
A |
T |
14: 55,942,164 (GRCm38) |
C188S |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 126,031,884 (GRCm38) |
T151A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,647,521 (GRCm38) |
G56D |
possibly damaging |
Het |
| Dbn1 |
T |
C |
13: 55,477,784 (GRCm38) |
E275G |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,727,363 (GRCm38) |
Q203* |
probably null |
Het |
| Ephb3 |
A |
G |
16: 21,214,917 (GRCm38) |
D251G |
probably damaging |
Het |
| Fancd2os |
G |
T |
6: 113,597,691 (GRCm38) |
T118N |
probably damaging |
Het |
| Got1l1 |
C |
T |
8: 27,200,248 (GRCm38) |
V132I |
probably benign |
Het |
| H2-M9 |
T |
C |
17: 36,641,527 (GRCm38) |
|
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,690,303 (GRCm38) |
V1278A |
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,976,621 (GRCm38) |
T519A |
probably damaging |
Het |
| Lgsn |
T |
A |
1: 31,203,443 (GRCm38) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,175,708 (GRCm38) |
F381L |
possibly damaging |
Het |
| Map1s |
G |
A |
8: 70,914,638 (GRCm38) |
G729D |
probably damaging |
Het |
| Mlycd |
A |
G |
8: 119,410,435 (GRCm38) |
I465V |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,447,204 (GRCm38) |
R108G |
possibly damaging |
Het |
| Mrgprx2 |
T |
A |
7: 48,482,023 (GRCm38) |
H106L |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,438,429 (GRCm38) |
Y6C |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,591,573 (GRCm38) |
D773G |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 71,566,573 (GRCm38) |
S3P |
probably damaging |
Het |
| Olfr109 |
T |
A |
17: 37,466,803 (GRCm38) |
V199D |
probably damaging |
Het |
| Olfr921 |
G |
A |
9: 38,775,596 (GRCm38) |
V114I |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,735,801 (GRCm38) |
F338L |
probably benign |
Het |
| Pdcl3 |
T |
A |
1: 38,991,280 (GRCm38) |
L14Q |
probably damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,594,930 (GRCm38) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,639,668 (GRCm38) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,689,161 (GRCm38) |
S307P |
probably benign |
Het |
| Relt |
C |
A |
7: 100,850,221 (GRCm38) |
E164* |
probably null |
Het |
| Rnf185 |
T |
C |
11: 3,426,617 (GRCm38) |
D86G |
probably damaging |
Het |
| Rrm2b |
T |
C |
15: 37,953,741 (GRCm38) |
E21G |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,522,566 (GRCm38) |
I783T |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 98,076,668 (GRCm38) |
R88G |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,546,468 (GRCm38) |
|
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,390,642 (GRCm38) |
S294P |
probably benign |
Het |
| Slc5a2 |
T |
A |
7: 128,270,053 (GRCm38) |
I335N |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,212,858 (GRCm38) |
M89K |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,384,772 (GRCm38) |
S1612R |
possibly damaging |
Het |
| Taf1c |
T |
C |
8: 119,604,236 (GRCm38) |
|
probably null |
Het |
| Taf1d |
T |
A |
9: 15,308,648 (GRCm38) |
S64R |
probably damaging |
Het |
| Tmem125 |
A |
G |
4: 118,542,073 (GRCm38) |
S54P |
possibly damaging |
Het |
| Ttf1 |
T |
A |
2: 29,071,349 (GRCm38) |
I583N |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,235,371 (GRCm38) |
|
probably null |
Het |
| Unc5b |
A |
T |
10: 60,774,592 (GRCm38) |
I482N |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,521,584 (GRCm38) |
Q824K |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,726,196 (GRCm38) |
|
probably benign |
Het |
| Vmn2r61 |
T |
G |
7: 42,275,474 (GRCm38) |
I484R |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,923,301 (GRCm38) |
I3774T |
possibly damaging |
Het |
| Yipf1 |
T |
A |
4: 107,345,160 (GRCm38) |
L240* |
probably null |
Het |
|
| Other mutations in Gm10801 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01100:Gm10801
|
APN |
2 |
98,663,983 (GRCm38) |
missense |
probably benign |
|
|
IGL01154:Gm10801
|
APN |
2 |
98,663,983 (GRCm38) |
missense |
probably benign |
|
|
Haplo
|
UTSW |
2 |
98,663,907 (GRCm38) |
splice site |
probably benign |
|
|
Ladder
|
UTSW |
2 |
98,663,901 (GRCm38) |
splice site |
probably null |
|
|
PIT4131001:Gm10801
|
UTSW |
2 |
98,662,303 (GRCm38) |
missense |
probably benign |
|
|
PIT4142001:Gm10801
|
UTSW |
2 |
98,662,303 (GRCm38) |
missense |
probably benign |
|
|
R0063:Gm10801
|
UTSW |
2 |
98,663,840 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0334:Gm10801
|
UTSW |
2 |
98,664,007 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0335:Gm10801
|
UTSW |
2 |
98,664,007 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1172:Gm10801
|
UTSW |
2 |
98,663,907 (GRCm38) |
splice site |
probably benign |
|
|
R1321:Gm10801
|
UTSW |
2 |
98,663,907 (GRCm38) |
splice site |
probably benign |
|
|
R1871:Gm10801
|
UTSW |
2 |
98,663,840 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1924:Gm10801
|
UTSW |
2 |
98,663,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2163:Gm10801
|
UTSW |
2 |
98,664,007 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R2306:Gm10801
|
UTSW |
2 |
98,664,007 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R2379:Gm10801
|
UTSW |
2 |
98,663,840 (GRCm38) |
missense |
probably benign |
0.30 |
|
R3078:Gm10801
|
UTSW |
2 |
98,663,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3605:Gm10801
|
UTSW |
2 |
98,664,007 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R3892:Gm10801
|
UTSW |
2 |
98,663,901 (GRCm38) |
splice site |
probably null |
|
|
R3930:Gm10801
|
UTSW |
2 |
98,664,016 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R4638:Gm10801
|
UTSW |
2 |
98,664,007 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4709:Gm10801
|
UTSW |
2 |
98,663,901 (GRCm38) |
splice site |
probably null |
|
|
R5390:Gm10801
|
UTSW |
2 |
98,663,806 (GRCm38) |
small insertion |
probably benign |
|
|
R5405:Gm10801
|
UTSW |
2 |
98,663,806 (GRCm38) |
small insertion |
probably benign |
|
|
R5535:Gm10801
|
UTSW |
2 |
98,662,499 (GRCm38) |
frame shift |
probably null |
|
|
R5653:Gm10801
|
UTSW |
2 |
98,664,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5747:Gm10801
|
UTSW |
2 |
98,664,007 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5987:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
nonsense |
probably null |
|
|
R6086:Gm10801
|
UTSW |
2 |
98,663,803 (GRCm38) |
nonsense |
probably null |
|
|
R6090:Gm10801
|
UTSW |
2 |
98,663,806 (GRCm38) |
small insertion |
probably benign |
|
|
R6093:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
nonsense |
probably null |
|
|
R6112:Gm10801
|
UTSW |
2 |
98,664,064 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6184:Gm10801
|
UTSW |
2 |
98,663,806 (GRCm38) |
small insertion |
probably benign |
|
|
R6352:Gm10801
|
UTSW |
2 |
98,663,806 (GRCm38) |
small insertion |
probably benign |
|
|
R6357:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
frame shift |
probably null |
|
|
R6395:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
small insertion |
probably benign |
|
|
R6514:Gm10801
|
UTSW |
2 |
98,663,869 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6547:Gm10801
|
UTSW |
2 |
98,663,803 (GRCm38) |
nonsense |
probably null |
|
|
R6560:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
nonsense |
probably null |
|
|
R6640:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
nonsense |
probably null |
|
|
R6675:Gm10801
|
UTSW |
2 |
98,663,806 (GRCm38) |
small insertion |
probably benign |
|
|
R6679:Gm10801
|
UTSW |
2 |
98,663,806 (GRCm38) |
small insertion |
probably benign |
|
|
R6684:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
nonsense |
probably null |
|
|
R6758:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
nonsense |
probably null |
|
|
R6786:Gm10801
|
UTSW |
2 |
98,663,803 (GRCm38) |
nonsense |
probably null |
|
|
R6886:Gm10801
|
UTSW |
2 |
98,663,806 (GRCm38) |
small insertion |
probably benign |
|
|
R7783:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
nonsense |
probably null |
|
|
R8032:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
nonsense |
probably null |
|
|
R8684:Gm10801
|
UTSW |
2 |
98,662,324 (GRCm38) |
frame shift |
probably null |
|
|
R8831:Gm10801
|
UTSW |
2 |
98,663,989 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8843:Gm10801
|
UTSW |
2 |
98,663,806 (GRCm38) |
small insertion |
probably benign |
|
|
R8946:Gm10801
|
UTSW |
2 |
98,662,324 (GRCm38) |
frame shift |
probably null |
|
|
R9135:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
nonsense |
probably null |
|
|
R9136:Gm10801
|
UTSW |
2 |
98,663,807 (GRCm38) |
nonsense |
probably null |
|
|
R9423:Gm10801
|
UTSW |
2 |
98,663,803 (GRCm38) |
nonsense |
probably null |
|
|
R9773:Gm10801
|
UTSW |
2 |
98,664,000 (GRCm38) |
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 |
Incidental Mutation