Incidental Mutation 'R6675:Gm10801'
| ID |
527235 |
| 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 # |
R6675 (G1)
|
| Quality Score |
109.467 |
|
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 TCGCC
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,006,302 (GRCm39) |
T1268A |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,229,197 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
G |
T |
10: 79,853,938 (GRCm39) |
D151Y |
probably null |
Het |
| Arhgef40 |
C |
A |
14: 52,229,098 (GRCm39) |
L592I |
probably damaging |
Het |
| Ascc3 |
G |
T |
10: 50,626,659 (GRCm39) |
E1720* |
probably null |
Het |
| Atp2c1 |
C |
T |
9: 105,330,732 (GRCm39) |
|
probably null |
Het |
| Avpi1 |
G |
A |
19: 42,112,183 (GRCm39) |
P125L |
probably benign |
Het |
| Cers3 |
A |
T |
7: 66,435,844 (GRCm39) |
T232S |
possibly damaging |
Het |
| Cfap53 |
T |
C |
18: 74,440,447 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
T |
C |
1: 82,646,646 (GRCm39) |
S386P |
unknown |
Het |
| Dhtkd1 |
A |
T |
2: 5,908,889 (GRCm39) |
M735K |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,563,997 (GRCm39) |
V400A |
possibly damaging |
Het |
| Hmgxb3 |
T |
G |
18: 61,270,648 (GRCm39) |
D892A |
possibly damaging |
Het |
| Hsd3b2 |
G |
A |
3: 98,620,788 (GRCm39) |
T89I |
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,873,054 (GRCm39) |
A713D |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,651,798 (GRCm39) |
T848I |
possibly damaging |
Het |
| Kcne2 |
A |
G |
16: 92,093,512 (GRCm39) |
D13G |
probably benign |
Het |
| Klra17 |
T |
A |
6: 129,849,286 (GRCm39) |
N96I |
probably damaging |
Het |
| Lrig2 |
T |
C |
3: 104,365,251 (GRCm39) |
N634D |
probably benign |
Het |
| Mrc2 |
T |
A |
11: 105,233,906 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
A |
T |
1: 136,118,550 (GRCm39) |
S558T |
possibly damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,398,281 (GRCm39) |
K627N |
possibly damaging |
Het |
| Ncstn |
A |
T |
1: 171,899,095 (GRCm39) |
D345E |
probably damaging |
Het |
| Nkx1-1 |
G |
T |
5: 33,591,223 (GRCm39) |
A33E |
unknown |
Het |
| Or2n1 |
T |
A |
17: 38,486,905 (GRCm39) |
M310K |
probably benign |
Het |
| Or51f2 |
A |
G |
7: 102,526,480 (GRCm39) |
E51G |
possibly damaging |
Het |
| Osbpl9 |
G |
T |
4: 108,991,025 (GRCm39) |
|
probably null |
Het |
| P2rx6 |
T |
C |
16: 17,380,032 (GRCm39) |
V52A |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,919,568 (GRCm39) |
I273V |
probably benign |
Het |
| Pdpr |
C |
T |
8: 111,828,532 (GRCm39) |
Q12* |
probably null |
Het |
| Plxdc2 |
A |
G |
2: 16,716,932 (GRCm39) |
T339A |
probably benign |
Het |
| Pramel27 |
G |
A |
4: 143,579,828 (GRCm39) |
C471Y |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,578,672 (GRCm39) |
V128A |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,697,432 (GRCm39) |
E442G |
probably damaging |
Het |
| Sec31b |
T |
C |
19: 44,512,214 (GRCm39) |
N560S |
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,449,836 (GRCm39) |
Q91* |
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
| Slc26a4 |
A |
T |
12: 31,590,512 (GRCm39) |
D380E |
possibly damaging |
Het |
| Stc2 |
T |
A |
11: 31,310,307 (GRCm39) |
D243V |
probably benign |
Het |
| Tshz2 |
G |
T |
2: 169,727,965 (GRCm39) |
A385S |
probably damaging |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,382 (GRCm39) |
T53A |
probably damaging |
Het |
| Zeb2 |
A |
T |
2: 44,887,457 (GRCm39) |
Y518* |
probably null |
Het |
| Zfp760 |
T |
A |
17: 21,941,991 (GRCm39) |
S389T |
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 |
|
|
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'- TGCCCATCTGTGTAGAAAGCTG -3'
(R):5'- TTTCTCTAGCCCCGGAAACC -3'
Sequencing Primer
(F):5'- CCATCTGTGTAGAAAGCTGTTGCTC -3'
(R):5'- ATGCACACTGTAAGACCTGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation