Incidental Mutation 'R3775:Msh6'
| ID |
273567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh6
|
| Ensembl Gene |
ENSMUSG00000005370 |
| Gene Name |
mutS homolog 6 |
| Synonyms |
Gtmbp, GTBP, Msh6 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3775 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
88282490-88298320 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 88293609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 788
(R788L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005503]
[ENSMUST00000005504]
|
| AlphaFold |
P54276 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005503
AA Change: R788L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005503
Gene: ENSMUSG00000005370
AA Change: R788L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
87 |
N/A |
INTRINSIC |
|
PWWP
|
90 |
152 |
9.01e-30 |
SMART |
|
low complexity region
|
198 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
389 |
N/A |
INTRINSIC |
|
Pfam:MutS_I
|
406 |
525 |
4.7e-35 |
PFAM |
|
Pfam:MutS_II
|
536 |
700 |
1.4e-10 |
PFAM |
|
MUTSd
|
750 |
1100 |
4.56e-86 |
SMART |
|
MUTSac
|
1125 |
1319 |
1.68e-116 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005504
|
| SMART Domains |
Protein: ENSMUSP00000005504
Gene: ENSMUSG00000005371
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
73 |
N/A |
INTRINSIC |
|
FBOX
|
162 |
202 |
2.44e-8 |
SMART |
|
PbH1
|
398 |
420 |
1.37e3 |
SMART |
|
PbH1
|
421 |
443 |
8.83e0 |
SMART |
|
CASH
|
421 |
557 |
1.31e-7 |
SMART |
|
PbH1
|
444 |
466 |
6.15e1 |
SMART |
|
PbH1
|
467 |
489 |
1.78e3 |
SMART |
|
PbH1
|
490 |
512 |
2.29e2 |
SMART |
|
PbH1
|
513 |
535 |
7.67e2 |
SMART |
|
PbH1
|
536 |
558 |
1.36e0 |
SMART |
|
PbH1
|
559 |
581 |
3.59e0 |
SMART |
|
CASH
|
573 |
695 |
2.35e0 |
SMART |
|
PbH1
|
582 |
604 |
8.73e2 |
SMART |
|
PbH1
|
605 |
627 |
4.28e2 |
SMART |
|
PbH1
|
628 |
650 |
5.03e2 |
SMART |
|
PbH1
|
651 |
673 |
3.79e1 |
SMART |
|
PbH1
|
674 |
696 |
4.73e0 |
SMART |
|
PbH1
|
697 |
719 |
1.86e2 |
SMART |
|
CASH
|
711 |
840 |
9.31e-13 |
SMART |
|
PbH1
|
720 |
742 |
2.91e0 |
SMART |
|
PbH1
|
743 |
765 |
3.73e2 |
SMART |
|
PbH1
|
766 |
788 |
1.62e2 |
SMART |
|
PbH1
|
789 |
811 |
9.99e1 |
SMART |
|
PbH1
|
812 |
833 |
1.21e3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130379
|
| SMART Domains |
Protein: ENSMUSP00000121206
Gene: ENSMUSG00000005371
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
87 |
127 |
2.44e-8 |
SMART |
|
PbH1
|
323 |
345 |
1.37e3 |
SMART |
|
PbH1
|
346 |
368 |
8.83e0 |
SMART |
|
CASH
|
346 |
482 |
1.31e-7 |
SMART |
|
PbH1
|
369 |
391 |
6.15e1 |
SMART |
|
PbH1
|
392 |
414 |
1.78e3 |
SMART |
|
PbH1
|
415 |
437 |
2.29e2 |
SMART |
|
PbH1
|
438 |
460 |
7.67e2 |
SMART |
|
PbH1
|
461 |
483 |
1.36e0 |
SMART |
|
PbH1
|
484 |
506 |
3.59e0 |
SMART |
|
CASH
|
498 |
620 |
2.35e0 |
SMART |
|
PbH1
|
507 |
529 |
8.73e2 |
SMART |
|
PbH1
|
530 |
552 |
4.28e2 |
SMART |
|
PbH1
|
553 |
575 |
5.03e2 |
SMART |
|
PbH1
|
576 |
598 |
3.79e1 |
SMART |
|
PbH1
|
599 |
621 |
4.73e0 |
SMART |
|
PbH1
|
622 |
644 |
1.86e2 |
SMART |
|
CASH
|
636 |
765 |
9.31e-13 |
SMART |
|
PbH1
|
645 |
667 |
2.91e0 |
SMART |
|
PbH1
|
668 |
690 |
3.73e2 |
SMART |
|
PbH1
|
691 |
713 |
1.62e2 |
SMART |
|
PbH1
|
714 |
736 |
9.99e1 |
SMART |
|
PbH1
|
737 |
758 |
1.21e3 |
SMART |
|
| Meta Mutation Damage Score |
0.9665 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death and are predisposed to tumor formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,986,387 (GRCm39) |
E2557G |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,075 (GRCm39) |
S1248P |
unknown |
Het |
| C2cd3 |
T |
C |
7: 100,081,205 (GRCm39) |
L1327S |
probably damaging |
Het |
| Ccnh |
T |
C |
13: 85,354,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc5 |
C |
A |
2: 106,202,738 (GRCm39) |
|
noncoding transcript |
Het |
| Eprs1 |
T |
C |
1: 185,105,205 (GRCm39) |
F160S |
probably damaging |
Het |
| F9 |
A |
G |
X: 59,064,345 (GRCm39) |
I190V |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,660,804 (GRCm39) |
A273D |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,058,270 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,720,029 (GRCm39) |
D534G |
probably damaging |
Het |
| Ints6l |
T |
C |
X: 55,526,731 (GRCm39) |
L220S |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,357 (GRCm39) |
T250A |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,126 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,157,502 (GRCm39) |
F271L |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or13p3 |
C |
T |
4: 118,567,351 (GRCm39) |
T249I |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,121 (GRCm39) |
I47F |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,167 (GRCm39) |
E205G |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
| Pgr15l |
G |
T |
X: 96,120,747 (GRCm39) |
R181M |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,011 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,769,880 (GRCm39) |
F186L |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,692,549 (GRCm39) |
D219G |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Vmn2r29 |
C |
G |
7: 7,243,011 (GRCm39) |
D500H |
probably damaging |
Het |
|
| Other mutations in Msh6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01691:Msh6
|
APN |
17 |
88,292,907 (GRCm39) |
missense |
probably benign |
|
|
IGL01834:Msh6
|
APN |
17 |
88,293,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01904:Msh6
|
APN |
17 |
88,292,160 (GRCm39) |
missense |
probably benign |
|
|
IGL01957:Msh6
|
APN |
17 |
88,292,519 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02117:Msh6
|
APN |
17 |
88,298,234 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02234:Msh6
|
APN |
17 |
88,294,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02512:Msh6
|
APN |
17 |
88,292,160 (GRCm39) |
missense |
probably benign |
|
|
IGL02651:Msh6
|
APN |
17 |
88,296,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03381:Msh6
|
APN |
17 |
88,292,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
medea
|
UTSW |
17 |
88,287,651 (GRCm39) |
nonsense |
probably null |
|
|
medusa
|
UTSW |
17 |
88,295,891 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4449001:Msh6
|
UTSW |
17 |
88,293,616 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0196:Msh6
|
UTSW |
17 |
88,287,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0324:Msh6
|
UTSW |
17 |
88,294,048 (GRCm39) |
nonsense |
probably null |
|
|
R0492:Msh6
|
UTSW |
17 |
88,282,679 (GRCm39) |
missense |
probably benign |
|
|
R0711:Msh6
|
UTSW |
17 |
88,294,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1065:Msh6
|
UTSW |
17 |
88,295,891 (GRCm39) |
unclassified |
probably benign |
|
|
R1454:Msh6
|
UTSW |
17 |
88,292,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1740:Msh6
|
UTSW |
17 |
88,293,150 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1770:Msh6
|
UTSW |
17 |
88,287,651 (GRCm39) |
nonsense |
probably null |
|
|
R1771:Msh6
|
UTSW |
17 |
88,291,950 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1919:Msh6
|
UTSW |
17 |
88,292,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1926:Msh6
|
UTSW |
17 |
88,293,653 (GRCm39) |
missense |
probably benign |
|
|
R2026:Msh6
|
UTSW |
17 |
88,297,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2095:Msh6
|
UTSW |
17 |
88,295,661 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2097:Msh6
|
UTSW |
17 |
88,292,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2149:Msh6
|
UTSW |
17 |
88,293,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Msh6
|
UTSW |
17 |
88,293,568 (GRCm39) |
nonsense |
probably null |
|
|
R2167:Msh6
|
UTSW |
17 |
88,296,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2382:Msh6
|
UTSW |
17 |
88,292,159 (GRCm39) |
missense |
probably benign |
|
|
R3005:Msh6
|
UTSW |
17 |
88,295,713 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3160:Msh6
|
UTSW |
17 |
88,292,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Msh6
|
UTSW |
17 |
88,292,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Msh6
|
UTSW |
17 |
88,292,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3774:Msh6
|
UTSW |
17 |
88,293,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4350:Msh6
|
UTSW |
17 |
88,292,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Msh6
|
UTSW |
17 |
88,298,217 (GRCm39) |
nonsense |
probably null |
|
|
R4499:Msh6
|
UTSW |
17 |
88,287,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Msh6
|
UTSW |
17 |
88,292,234 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4668:Msh6
|
UTSW |
17 |
88,292,234 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4669:Msh6
|
UTSW |
17 |
88,292,234 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4849:Msh6
|
UTSW |
17 |
88,290,947 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5137:Msh6
|
UTSW |
17 |
88,287,716 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5472:Msh6
|
UTSW |
17 |
88,291,989 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5594:Msh6
|
UTSW |
17 |
88,293,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5607:Msh6
|
UTSW |
17 |
88,294,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5608:Msh6
|
UTSW |
17 |
88,294,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Msh6
|
UTSW |
17 |
88,292,147 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6243:Msh6
|
UTSW |
17 |
88,290,999 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6279:Msh6
|
UTSW |
17 |
88,287,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Msh6
|
UTSW |
17 |
88,291,888 (GRCm39) |
nonsense |
probably null |
|
|
R6399:Msh6
|
UTSW |
17 |
88,294,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6453:Msh6
|
UTSW |
17 |
88,293,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6646:Msh6
|
UTSW |
17 |
88,293,870 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7404:Msh6
|
UTSW |
17 |
88,282,548 (GRCm39) |
|
|
|
|
R7837:Msh6
|
UTSW |
17 |
88,292,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8004:Msh6
|
UTSW |
17 |
88,294,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Msh6
|
UTSW |
17 |
88,294,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8326:Msh6
|
UTSW |
17 |
88,294,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Msh6
|
UTSW |
17 |
88,292,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Msh6
|
UTSW |
17 |
88,293,195 (GRCm39) |
missense |
probably benign |
|
|
R9752:Msh6
|
UTSW |
17 |
88,293,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Msh6
|
UTSW |
17 |
88,298,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Msh6
|
UTSW |
17 |
88,293,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAGCCAGTCAGCGGATGG -3'
(R):5'- TCCTTCTAGAGCAGAGAGAAAATC -3'
Sequencing Primer
(F):5'- TCAGCGGATGGTGCTAGAC -3'
(R):5'- AGCAGAGAGAAAATCAATGATCTTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation