Incidental Mutation 'R5197:Sash1'
| ID |
400376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sash1
|
| Ensembl Gene |
ENSMUSG00000015305 |
| Gene Name |
SAM and SH3 domain containing 1 |
| Synonyms |
A330076K04Rik, 2500002E12Rik, 1100001C18Rik |
| MMRRC Submission |
042773-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5197 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
8597983-8761814 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 8615989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 624
(R624S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015449]
[ENSMUST00000212869]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015449
AA Change: R624S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015449
Gene: ENSMUSG00000015305
AA Change: R624S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
coiled coil region
|
185 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
336 |
N/A |
INTRINSIC |
|
Pfam:SLY
|
394 |
548 |
1.2e-46 |
PFAM |
|
SH3
|
550 |
607 |
1.16e-3 |
SMART |
|
SAM
|
623 |
690 |
1.83e-11 |
SMART |
|
low complexity region
|
1008 |
1021 |
N/A |
INTRINSIC |
|
SAM
|
1157 |
1224 |
3.6e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212869
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
T |
C |
9: 54,529,866 (GRCm39) |
E247G |
possibly damaging |
Het |
| Adgra3 |
A |
G |
5: 50,118,096 (GRCm39) |
F1151L |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aldh4a1 |
A |
C |
4: 139,375,612 (GRCm39) |
|
probably benign |
Het |
| Anln |
A |
T |
9: 22,264,077 (GRCm39) |
|
probably null |
Het |
| Aste1 |
T |
C |
9: 105,282,253 (GRCm39) |
S74P |
probably damaging |
Het |
| Atp6v0e2 |
G |
A |
6: 48,517,051 (GRCm39) |
R77H |
probably benign |
Het |
| Brpf1 |
A |
G |
6: 113,296,902 (GRCm39) |
D962G |
possibly damaging |
Het |
| Btbd2 |
T |
C |
10: 80,482,253 (GRCm39) |
D249G |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,955,989 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
A |
G |
19: 47,885,811 (GRCm39) |
L268P |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,255,413 (GRCm39) |
V540A |
probably benign |
Het |
| Col22a1 |
C |
T |
15: 71,881,255 (GRCm39) |
G32D |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,432,241 (GRCm39) |
P804Q |
probably benign |
Het |
| Cyp2d41-ps |
A |
G |
15: 82,662,981 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp39a1 |
T |
G |
17: 44,057,429 (GRCm39) |
L423V |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,748,607 (GRCm39) |
V484G |
probably benign |
Het |
| Eps8 |
C |
A |
6: 137,467,288 (GRCm39) |
Q656H |
probably damaging |
Het |
| Eps8 |
T |
C |
6: 137,467,289 (GRCm39) |
Q656R |
possibly damaging |
Het |
| Fshb |
T |
C |
2: 106,887,854 (GRCm39) |
D55G |
possibly damaging |
Het |
| Garin1a |
G |
T |
6: 29,281,221 (GRCm39) |
|
probably benign |
Het |
| H3c4 |
T |
A |
13: 23,760,304 (GRCm39) |
L110Q |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,355,786 (GRCm39) |
Q2346K |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,550,833 (GRCm39) |
D328E |
probably benign |
Het |
| Kif21b |
A |
T |
1: 136,072,363 (GRCm39) |
K23M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,705,673 (GRCm39) |
E470V |
probably benign |
Het |
| Lrrc4 |
G |
T |
6: 28,830,142 (GRCm39) |
T68K |
probably damaging |
Het |
| Lrrc63 |
T |
A |
14: 75,322,322 (GRCm39) |
H594L |
possibly damaging |
Het |
| Mfsd14a |
A |
T |
3: 116,442,150 (GRCm39) |
|
probably benign |
Het |
| Mob2 |
T |
C |
7: 141,563,274 (GRCm39) |
|
probably null |
Het |
| Nckap5 |
T |
A |
1: 126,150,410 (GRCm39) |
H105L |
possibly damaging |
Het |
| Ngef |
C |
A |
1: 87,437,090 (GRCm39) |
G133* |
probably null |
Het |
| Or14j2 |
T |
G |
17: 37,886,111 (GRCm39) |
I68L |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
T |
A |
14: 14,328,462 (GRCm38) |
M117K |
probably damaging |
Het |
| Or52s1 |
G |
A |
7: 102,861,207 (GRCm39) |
V47I |
probably benign |
Het |
| Or5b120 |
G |
T |
19: 13,479,748 (GRCm39) |
V14F |
possibly damaging |
Het |
| Or5g23 |
T |
C |
2: 85,438,791 (GRCm39) |
I154M |
probably benign |
Het |
| Pard3 |
A |
G |
8: 127,800,040 (GRCm39) |
|
probably null |
Het |
| Pgm2 |
C |
T |
5: 64,263,175 (GRCm39) |
A274V |
possibly damaging |
Het |
| Ppp1r9a |
T |
A |
6: 5,156,177 (GRCm39) |
S1144R |
probably damaging |
Het |
| Pramel23 |
A |
C |
4: 143,424,632 (GRCm39) |
C270W |
possibly damaging |
Het |
| Prkcq |
C |
T |
2: 11,304,227 (GRCm39) |
P590L |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,474,374 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
A |
1: 127,816,931 (GRCm39) |
D63E |
probably benign |
Het |
| Rag2 |
C |
A |
2: 101,461,085 (GRCm39) |
T465K |
probably damaging |
Het |
| Rnase6 |
A |
G |
14: 51,367,670 (GRCm39) |
M21V |
unknown |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,653,316 (GRCm39) |
|
probably null |
Het |
| Slc1a2 |
A |
G |
2: 102,586,460 (GRCm39) |
I355V |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,036,358 (GRCm39) |
S1097P |
probably benign |
Het |
| Sugct |
C |
T |
13: 17,497,861 (GRCm39) |
A271T |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,034,350 (GRCm39) |
V1065A |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,338,389 (GRCm39) |
Y307F |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,642,126 (GRCm39) |
N216S |
probably benign |
Het |
| Ttk |
T |
C |
9: 83,721,394 (GRCm39) |
V93A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,195,408 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,871,937 (GRCm39) |
K364E |
probably benign |
Het |
| Xrcc2 |
G |
T |
5: 25,897,656 (GRCm39) |
H98N |
probably benign |
Het |
| Zdhhc11 |
A |
G |
13: 74,113,688 (GRCm39) |
I77V |
probably benign |
Het |
| Zfp54 |
C |
T |
17: 21,654,442 (GRCm39) |
S312L |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Sash1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Sash1
|
APN |
10 |
8,627,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01535:Sash1
|
APN |
10 |
8,617,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01537:Sash1
|
APN |
10 |
8,605,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01788:Sash1
|
APN |
10 |
8,609,410 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01933:Sash1
|
APN |
10 |
8,626,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02126:Sash1
|
APN |
10 |
8,615,229 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02285:Sash1
|
APN |
10 |
8,616,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02400:Sash1
|
APN |
10 |
8,609,411 (GRCm39) |
nonsense |
probably null |
|
|
IGL02504:Sash1
|
APN |
10 |
8,605,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02630:Sash1
|
APN |
10 |
8,620,299 (GRCm39) |
missense |
probably benign |
0.06 |
|
boyscout
|
UTSW |
10 |
8,618,186 (GRCm39) |
splice site |
probably null |
|
|
cubscout
|
UTSW |
10 |
8,605,477 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0592:Sash1
|
UTSW |
10 |
8,605,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0647:Sash1
|
UTSW |
10 |
8,605,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0656:Sash1
|
UTSW |
10 |
8,626,901 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0830:Sash1
|
UTSW |
10 |
8,605,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0919:Sash1
|
UTSW |
10 |
8,605,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1470:Sash1
|
UTSW |
10 |
8,665,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Sash1
|
UTSW |
10 |
8,665,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Sash1
|
UTSW |
10 |
8,605,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1707:Sash1
|
UTSW |
10 |
8,606,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1922:Sash1
|
UTSW |
10 |
8,603,672 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1940:Sash1
|
UTSW |
10 |
8,605,696 (GRCm39) |
missense |
probably benign |
|
|
R1964:Sash1
|
UTSW |
10 |
8,605,477 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2013:Sash1
|
UTSW |
10 |
8,605,177 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2014:Sash1
|
UTSW |
10 |
8,605,177 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2015:Sash1
|
UTSW |
10 |
8,605,177 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2074:Sash1
|
UTSW |
10 |
8,632,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Sash1
|
UTSW |
10 |
8,605,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2253:Sash1
|
UTSW |
10 |
8,605,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2260:Sash1
|
UTSW |
10 |
8,662,142 (GRCm39) |
nonsense |
probably null |
|
|
R3085:Sash1
|
UTSW |
10 |
8,618,186 (GRCm39) |
splice site |
probably null |
|
|
R4024:Sash1
|
UTSW |
10 |
8,605,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4039:Sash1
|
UTSW |
10 |
8,605,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Sash1
|
UTSW |
10 |
8,606,006 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4292:Sash1
|
UTSW |
10 |
8,606,006 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4295:Sash1
|
UTSW |
10 |
8,606,006 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4301:Sash1
|
UTSW |
10 |
8,627,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4657:Sash1
|
UTSW |
10 |
8,601,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Sash1
|
UTSW |
10 |
8,606,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4719:Sash1
|
UTSW |
10 |
8,605,477 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4745:Sash1
|
UTSW |
10 |
8,605,672 (GRCm39) |
missense |
probably benign |
|
|
R5217:Sash1
|
UTSW |
10 |
8,656,368 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5420:Sash1
|
UTSW |
10 |
8,621,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:Sash1
|
UTSW |
10 |
8,601,482 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6505:Sash1
|
UTSW |
10 |
8,605,291 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6679:Sash1
|
UTSW |
10 |
8,615,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6761:Sash1
|
UTSW |
10 |
8,620,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6885:Sash1
|
UTSW |
10 |
8,659,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Sash1
|
UTSW |
10 |
8,605,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7034:Sash1
|
UTSW |
10 |
8,605,847 (GRCm39) |
nonsense |
probably null |
|
|
R7036:Sash1
|
UTSW |
10 |
8,605,847 (GRCm39) |
nonsense |
probably null |
|
|
R7088:Sash1
|
UTSW |
10 |
8,605,481 (GRCm39) |
nonsense |
probably null |
|
|
R7289:Sash1
|
UTSW |
10 |
8,605,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7464:Sash1
|
UTSW |
10 |
8,632,509 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7661:Sash1
|
UTSW |
10 |
8,605,155 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7752:Sash1
|
UTSW |
10 |
8,656,328 (GRCm39) |
nonsense |
probably null |
|
|
R7856:Sash1
|
UTSW |
10 |
8,605,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7901:Sash1
|
UTSW |
10 |
8,656,328 (GRCm39) |
nonsense |
probably null |
|
|
R8152:Sash1
|
UTSW |
10 |
8,626,805 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8218:Sash1
|
UTSW |
10 |
8,627,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8317:Sash1
|
UTSW |
10 |
8,605,150 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8358:Sash1
|
UTSW |
10 |
8,605,745 (GRCm39) |
missense |
probably benign |
|
|
R8503:Sash1
|
UTSW |
10 |
8,656,277 (GRCm39) |
splice site |
probably benign |
|
|
R8696:Sash1
|
UTSW |
10 |
8,609,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Sash1
|
UTSW |
10 |
8,605,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8710:Sash1
|
UTSW |
10 |
8,656,285 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8822:Sash1
|
UTSW |
10 |
8,761,615 (GRCm39) |
start gained |
probably benign |
|
|
R8826:Sash1
|
UTSW |
10 |
8,637,869 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8891:Sash1
|
UTSW |
10 |
8,603,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Sash1
|
UTSW |
10 |
8,606,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8984:Sash1
|
UTSW |
10 |
8,626,808 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9194:Sash1
|
UTSW |
10 |
8,615,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9248:Sash1
|
UTSW |
10 |
8,617,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9405:Sash1
|
UTSW |
10 |
8,637,994 (GRCm39) |
start gained |
probably benign |
|
|
R9408:Sash1
|
UTSW |
10 |
8,637,994 (GRCm39) |
start gained |
probably benign |
|
|
R9489:Sash1
|
UTSW |
10 |
8,605,169 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9576:Sash1
|
UTSW |
10 |
8,620,299 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9632:Sash1
|
UTSW |
10 |
8,615,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGCTATTGCCCTTAGTGAAG -3'
(R):5'- AAAGATCTTTGTTCCCTGGGCC -3'
Sequencing Primer
(F):5'- GTAACGTTAGAATACTGGTAACCG -3'
(R):5'- CCACAGAAAGGAGATATCATTGAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation