Incidental Mutation 'R1264:Shisa6'
| ID |
151118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shisa6
|
| Ensembl Gene |
ENSMUSG00000053930 |
| Gene Name |
shisa family member 6 |
| Synonyms |
Gm879, CKAMP52, LOC380702 |
| MMRRC Submission |
039331-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1264 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
66102551-66416790 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 66265975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066679]
|
| AlphaFold |
Q3UH99 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066679
|
| SMART Domains |
Protein: ENSMUSP00000071025
Gene: ENSMUSG00000053930
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
|
Pfam:Shisa
|
97 |
294 |
6.3e-43 |
PFAM |
|
low complexity region
|
378 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123454
|
| SMART Domains |
Protein: ENSMUSP00000120862
Gene: ENSMUSG00000053930
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
37 |
N/A |
INTRINSIC |
|
Pfam:Shisa
|
41 |
227 |
2.4e-43 |
PFAM |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134562
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,592,103 (GRCm39) |
|
probably benign |
Het |
| Acadl |
A |
T |
1: 66,896,712 (GRCm39) |
C27S |
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,598,931 (GRCm39) |
G258E |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,299,962 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,791,233 (GRCm39) |
N21S |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,847,447 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,518,615 (GRCm39) |
|
probably benign |
Het |
| Clec10a |
T |
A |
11: 70,060,567 (GRCm39) |
S103T |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,339,662 (GRCm39) |
R770G |
probably benign |
Het |
| Cndp2 |
C |
A |
18: 84,696,916 (GRCm39) |
C95F |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
| Col4a3 |
A |
T |
1: 82,621,022 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,022,085 (GRCm39) |
|
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,953,484 (GRCm39) |
V18A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,439,491 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,221,675 (GRCm39) |
D715G |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,379 (GRCm39) |
K425E |
unknown |
Het |
| Kif13b |
T |
C |
14: 65,013,681 (GRCm39) |
|
probably benign |
Het |
| Msh2 |
T |
A |
17: 88,014,607 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,071,604 (GRCm39) |
N474D |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,978,185 (GRCm39) |
T1246A |
probably benign |
Het |
| Nob1 |
T |
C |
8: 108,148,136 (GRCm39) |
H102R |
probably damaging |
Het |
| Or4z4 |
G |
T |
19: 12,076,198 (GRCm39) |
D268E |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,203,316 (GRCm39) |
I415F |
probably damaging |
Het |
| Pfkl |
T |
G |
10: 77,829,250 (GRCm39) |
K386T |
possibly damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,474,195 (GRCm39) |
V447A |
probably benign |
Het |
| Poli |
C |
T |
18: 70,650,574 (GRCm39) |
V266I |
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 71,861,449 (GRCm39) |
K46N |
possibly damaging |
Het |
| Six3 |
T |
A |
17: 85,929,285 (GRCm39) |
D206E |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,060,158 (GRCm39) |
E944D |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,381 (GRCm39) |
F1173S |
probably damaging |
Het |
| Tfdp1 |
C |
A |
8: 13,423,837 (GRCm39) |
|
probably benign |
Het |
| Trrap |
A |
G |
5: 144,726,409 (GRCm39) |
|
probably benign |
Het |
| Wbp11 |
A |
G |
6: 136,791,513 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Shisa6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01538:Shisa6
|
APN |
11 |
66,108,654 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01620:Shisa6
|
APN |
11 |
66,108,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02702:Shisa6
|
APN |
11 |
66,110,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02810:Shisa6
|
APN |
11 |
66,115,774 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03029:Shisa6
|
APN |
11 |
66,108,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0363:Shisa6
|
UTSW |
11 |
66,416,153 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1220:Shisa6
|
UTSW |
11 |
66,110,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2495:Shisa6
|
UTSW |
11 |
66,108,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3962:Shisa6
|
UTSW |
11 |
66,108,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4449:Shisa6
|
UTSW |
11 |
66,416,244 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5872:Shisa6
|
UTSW |
11 |
66,108,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Shisa6
|
UTSW |
11 |
66,115,800 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6172:Shisa6
|
UTSW |
11 |
66,108,832 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6849:Shisa6
|
UTSW |
11 |
66,416,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6903:Shisa6
|
UTSW |
11 |
66,265,982 (GRCm39) |
splice site |
probably null |
|
|
R7282:Shisa6
|
UTSW |
11 |
66,393,480 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7450:Shisa6
|
UTSW |
11 |
66,108,832 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7985:Shisa6
|
UTSW |
11 |
66,265,990 (GRCm39) |
missense |
|
|
|
R8449:Shisa6
|
UTSW |
11 |
66,416,556 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9129:Shisa6
|
UTSW |
11 |
66,110,853 (GRCm39) |
missense |
probably benign |
0.37 |
|
RF008:Shisa6
|
UTSW |
11 |
66,416,749 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Shisa6
|
UTSW |
11 |
66,266,053 (GRCm39) |
missense |
|
|
|
Z1187:Shisa6
|
UTSW |
11 |
66,416,533 (GRCm39) |
small insertion |
probably benign |
|
|
Z1187:Shisa6
|
UTSW |
11 |
66,416,524 (GRCm39) |
small insertion |
probably benign |
|
|
Z1188:Shisa6
|
UTSW |
11 |
66,416,519 (GRCm39) |
small insertion |
probably benign |
|
|
Z1190:Shisa6
|
UTSW |
11 |
66,416,535 (GRCm39) |
small insertion |
probably benign |
|
|
Z1190:Shisa6
|
UTSW |
11 |
66,416,519 (GRCm39) |
small insertion |
probably benign |
|
|
Z1191:Shisa6
|
UTSW |
11 |
66,416,517 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCCCATCATGTACAGAGCAGG -3'
(R):5'- GCACACCATCATTGTTGGGCAAG -3'
Sequencing Primer
(F):5'- GAGGTCTTTTGCCTTCTAAAGTC -3'
(R):5'- CATCATTGTTGGGCAAGATGGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation