Incidental Mutation 'R5405:Gm10801'
| ID |
478304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm10801
|
| Ensembl Gene |
ENSMUSG00000075015 |
| Gene Name |
predicted gene 10801 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
R5405 (G1)
|
| Quality Score |
101 |
|
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 TCGAC
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: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,078,179 (GRCm39) |
T298S |
probably benign |
Het |
| Atad2b |
G |
A |
12: 4,990,098 (GRCm39) |
R141Q |
possibly damaging |
Het |
| B3glct |
A |
G |
5: 149,632,818 (GRCm39) |
Q56R |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,894,894 (GRCm39) |
Y358C |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,966,085 (GRCm39) |
E1136G |
possibly damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,163,290 (GRCm39) |
N314K |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,032,496 (GRCm39) |
I488N |
probably benign |
Het |
| Chd6 |
C |
T |
2: 160,807,310 (GRCm39) |
R1968K |
probably benign |
Het |
| Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
| Cyp39a1 |
C |
T |
17: 43,987,831 (GRCm39) |
A99V |
probably damaging |
Het |
| Dipk1a |
C |
T |
5: 108,057,827 (GRCm39) |
V199I |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,554,380 (GRCm39) |
S890P |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,612,018 (GRCm39) |
D620V |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,375,102 (GRCm39) |
C588* |
probably null |
Het |
| Erc1 |
A |
T |
6: 119,801,905 (GRCm39) |
S37R |
probably damaging |
Het |
| Gm14443 |
T |
C |
2: 175,013,644 (GRCm39) |
I43V |
possibly damaging |
Het |
| Ins2 |
C |
T |
7: 142,233,134 (GRCm39) |
R46H |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,523 (GRCm39) |
I413V |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,745,849 (GRCm39) |
D660G |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,901,047 (GRCm39) |
Q318R |
probably benign |
Het |
| Mpzl2 |
T |
C |
9: 44,958,503 (GRCm39) |
S80P |
probably damaging |
Het |
| Mrpl2 |
T |
C |
17: 46,960,036 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
C |
7: 100,209,000 (GRCm39) |
Y108C |
probably damaging |
Het |
| Ndufaf7 |
C |
A |
17: 79,246,044 (GRCm39) |
F92L |
probably damaging |
Het |
| Or14c43 |
T |
C |
7: 86,115,383 (GRCm39) |
Y255H |
probably damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,265 (GRCm39) |
D189V |
probably damaging |
Het |
| Rec114 |
T |
C |
9: 58,567,624 (GRCm39) |
S121G |
probably benign |
Het |
| Rnase10 |
A |
T |
14: 51,247,317 (GRCm39) |
I195F |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,133,087 (GRCm39) |
E1754G |
probably damaging |
Het |
| Sec31a |
G |
T |
5: 100,531,657 (GRCm39) |
C238* |
probably null |
Het |
| Slc12a6 |
T |
C |
2: 112,169,724 (GRCm39) |
V337A |
probably damaging |
Het |
| Slc25a37 |
A |
G |
14: 69,482,344 (GRCm39) |
V319A |
possibly damaging |
Het |
| Slc26a10 |
T |
C |
10: 127,010,864 (GRCm39) |
Y456C |
probably benign |
Het |
| Slc27a3 |
G |
A |
3: 90,294,382 (GRCm39) |
T463I |
probably benign |
Het |
| Slc66a3 |
A |
G |
12: 17,043,315 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,524,149 (GRCm39) |
D781E |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,057,208 (GRCm39) |
|
probably benign |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,325 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r71 |
A |
G |
7: 85,268,622 (GRCm39) |
D275G |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,692,543 (GRCm39) |
T121A |
probably benign |
Het |
| Zdhhc19 |
C |
T |
16: 32,325,869 (GRCm39) |
R240C |
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 |
|
|
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'- CATCTGTGTAGAAAGCTGTTGC -3'
(R):5'- TTTCTCTAGCCCCGGAAACC -3'
Sequencing Primer
(F):5'- TGGCTCAATGGCAGAGTGC -3'
(R):5'- ATGCACACTGTAAGACCTGG -3'
|
| Posted On |
2017-06-23 |
Incidental Mutation