Incidental Mutation 'R3025:Msh4'
| ID |
265793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh4
|
| Ensembl Gene |
ENSMUSG00000005493 |
| Gene Name |
mutS homolog 4 |
| Synonyms |
mMsh4, 4930485C04Rik |
| MMRRC Submission |
040541-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.482)
|
| Stock # |
R3025 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
153857149-153906138 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 153863491 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 621
(H621L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000188338]
[ENSMUST00000190449]
|
| AlphaFold |
Q99MT2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005630
AA Change: H815L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: H815L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
107 |
N/A |
INTRINSIC |
|
Pfam:MutS_II
|
177 |
321 |
2.3e-20 |
PFAM |
|
MUTSd
|
352 |
679 |
3.77e-37 |
SMART |
|
MUTSac
|
695 |
888 |
1.6e-81 |
SMART |
|
Blast:MUTSac
|
912 |
956 |
1e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186220
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188338
AA Change: H727L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: H727L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MutS_II
|
89 |
233 |
5.3e-19 |
PFAM |
|
MUTSd
|
264 |
591 |
9.4e-40 |
SMART |
|
MUTSac
|
607 |
800 |
4.2e-84 |
SMART |
|
Blast:MUTSac
|
808 |
866 |
4e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189189
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190449
AA Change: H621L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: H621L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MutS_II
|
1 |
127 |
3.3e-15 |
PFAM |
|
MUTSd
|
158 |
485 |
9.4e-40 |
SMART |
|
MUTSac
|
501 |
694 |
4.2e-84 |
SMART |
|
Blast:MUTSac
|
702 |
760 |
5e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191606
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,974,093 |
|
probably null |
Het |
| Akap6 |
A |
G |
12: 53,140,143 |
T1447A |
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,994,348 |
R250C |
probably damaging |
Het |
| Cacna1a |
T |
A |
8: 84,580,225 |
|
probably null |
Het |
| Chd6 |
GATCAT |
GAT |
2: 160,966,552 |
|
probably benign |
Het |
| Cptp |
T |
C |
4: 155,867,221 |
E5G |
possibly damaging |
Het |
| Dnajc16 |
C |
A |
4: 141,774,611 |
V303F |
probably benign |
Het |
| Gm10842 |
T |
C |
11: 105,147,076 |
S62P |
unknown |
Het |
| Gm17509 |
T |
C |
13: 117,220,576 |
|
probably benign |
Het |
| Homer1 |
C |
T |
13: 93,402,074 |
Q142* |
probably null |
Het |
| Kcnb2 |
C |
A |
1: 15,710,835 |
Q644K |
possibly damaging |
Het |
| Map3k19 |
T |
C |
1: 127,838,553 |
|
probably null |
Het |
| Ogfod1 |
A |
T |
8: 94,063,052 |
E460D |
probably damaging |
Het |
| Olfr228 |
A |
T |
2: 86,483,739 |
M1K |
probably null |
Het |
| Olfr808 |
T |
A |
10: 129,767,673 |
F59Y |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,352,675 |
R61W |
probably damaging |
Het |
| Scaf4 |
A |
T |
16: 90,251,938 |
H329Q |
unknown |
Het |
| Sec61a1 |
A |
T |
6: 88,512,220 |
D166E |
probably damaging |
Het |
| Tars2 |
C |
T |
3: 95,747,640 |
R63H |
possibly damaging |
Het |
| Vmn1r57 |
A |
T |
7: 5,220,715 |
K80* |
probably null |
Het |
| Vmn2r106 |
A |
G |
17: 20,278,885 |
W255R |
probably benign |
Het |
| Wdr49 |
C |
G |
3: 75,333,356 |
C402S |
possibly damaging |
Het |
|
| Other mutations in Msh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00862:Msh4
|
APN |
3 |
153883735 |
missense |
possibly damaging |
0.88 |
|
IGL01098:Msh4
|
APN |
3 |
153877982 |
splice site |
probably benign |
|
|
IGL01609:Msh4
|
APN |
3 |
153897397 |
missense |
probably damaging |
1.00 |
|
IGL01785:Msh4
|
APN |
3 |
153857507 |
missense |
probably damaging |
1.00 |
|
IGL01939:Msh4
|
APN |
3 |
153857589 |
missense |
probably damaging |
1.00 |
|
IGL02022:Msh4
|
APN |
3 |
153886956 |
missense |
probably damaging |
1.00 |
|
IGL02209:Msh4
|
APN |
3 |
153888862 |
missense |
probably damaging |
1.00 |
|
IGL02224:Msh4
|
APN |
3 |
153890185 |
missense |
possibly damaging |
0.94 |
|
IGL02240:Msh4
|
APN |
3 |
153873674 |
missense |
probably damaging |
0.98 |
|
IGL02493:Msh4
|
APN |
3 |
153877908 |
critical splice donor site |
probably null |
|
|
IGL02576:Msh4
|
APN |
3 |
153867746 |
missense |
probably damaging |
1.00 |
|
IGL02616:Msh4
|
APN |
3 |
153857523 |
missense |
probably benign |
|
|
IGL02812:Msh4
|
APN |
3 |
153901400 |
splice site |
probably benign |
|
|
IGL02888:Msh4
|
APN |
3 |
153896913 |
nonsense |
probably null |
|
|
IGL02992:Msh4
|
APN |
3 |
153872325 |
missense |
possibly damaging |
0.79 |
|
IGL03191:Msh4
|
APN |
3 |
153869608 |
missense |
probably damaging |
0.97 |
|
P0021:Msh4
|
UTSW |
3 |
153888818 |
missense |
probably damaging |
1.00 |
|
R0057:Msh4
|
UTSW |
3 |
153869681 |
missense |
probably benign |
0.16 |
|
R0057:Msh4
|
UTSW |
3 |
153869681 |
missense |
probably benign |
0.16 |
|
R0368:Msh4
|
UTSW |
3 |
153888825 |
missense |
probably damaging |
1.00 |
|
R0377:Msh4
|
UTSW |
3 |
153896890 |
missense |
probably benign |
0.00 |
|
R0631:Msh4
|
UTSW |
3 |
153866420 |
missense |
probably benign |
0.02 |
|
R0632:Msh4
|
UTSW |
3 |
153896895 |
missense |
probably damaging |
1.00 |
|
R0677:Msh4
|
UTSW |
3 |
153879367 |
missense |
possibly damaging |
0.69 |
|
R0909:Msh4
|
UTSW |
3 |
153863504 |
missense |
probably benign |
0.00 |
|
R1081:Msh4
|
UTSW |
3 |
153872358 |
missense |
probably benign |
0.06 |
|
R1463:Msh4
|
UTSW |
3 |
153857570 |
missense |
probably damaging |
1.00 |
|
R1476:Msh4
|
UTSW |
3 |
153863384 |
missense |
probably damaging |
1.00 |
|
R1669:Msh4
|
UTSW |
3 |
153876720 |
missense |
possibly damaging |
0.47 |
|
R1733:Msh4
|
UTSW |
3 |
153867767 |
missense |
probably damaging |
1.00 |
|
R1859:Msh4
|
UTSW |
3 |
153905880 |
missense |
probably benign |
|
|
R2168:Msh4
|
UTSW |
3 |
153867835 |
nonsense |
probably null |
|
|
R2378:Msh4
|
UTSW |
3 |
153863477 |
missense |
probably damaging |
0.99 |
|
R2991:Msh4
|
UTSW |
3 |
153905860 |
missense |
probably benign |
|
|
R4604:Msh4
|
UTSW |
3 |
153872283 |
missense |
probably damaging |
1.00 |
|
R4757:Msh4
|
UTSW |
3 |
153879387 |
missense |
probably damaging |
0.99 |
|
R5205:Msh4
|
UTSW |
3 |
153866412 |
missense |
probably damaging |
1.00 |
|
R5285:Msh4
|
UTSW |
3 |
153873713 |
missense |
probably benign |
0.03 |
|
R5766:Msh4
|
UTSW |
3 |
153867840 |
missense |
probably damaging |
1.00 |
|
R5777:Msh4
|
UTSW |
3 |
153863439 |
missense |
probably benign |
0.01 |
|
R5888:Msh4
|
UTSW |
3 |
153867723 |
critical splice donor site |
probably null |
|
|
R7384:Msh4
|
UTSW |
3 |
153888748 |
missense |
probably benign |
0.23 |
|
R7408:Msh4
|
UTSW |
3 |
153876745 |
missense |
probably benign |
0.06 |
|
R7487:Msh4
|
UTSW |
3 |
153863510 |
missense |
probably damaging |
1.00 |
|
R7503:Msh4
|
UTSW |
3 |
153867750 |
missense |
probably damaging |
1.00 |
|
R7726:Msh4
|
UTSW |
3 |
153866320 |
critical splice donor site |
probably null |
|
|
R7990:Msh4
|
UTSW |
3 |
153896892 |
missense |
probably damaging |
1.00 |
|
R8097:Msh4
|
UTSW |
3 |
153877908 |
critical splice donor site |
probably null |
|
|
R8805:Msh4
|
UTSW |
3 |
153857633 |
missense |
probably benign |
0.00 |
|
R8814:Msh4
|
UTSW |
3 |
153872320 |
missense |
probably damaging |
1.00 |
|
R8861:Msh4
|
UTSW |
3 |
153901468 |
missense |
probably benign |
0.04 |
|
R8970:Msh4
|
UTSW |
3 |
153869732 |
nonsense |
probably null |
|
|
R9010:Msh4
|
UTSW |
3 |
153890182 |
missense |
probably benign |
0.30 |
|
R9338:Msh4
|
UTSW |
3 |
153867807 |
missense |
possibly damaging |
0.55 |
|
R9598:Msh4
|
UTSW |
3 |
153901511 |
missense |
possibly damaging |
0.93 |
|
R9780:Msh4
|
UTSW |
3 |
153876705 |
missense |
probably damaging |
1.00 |
|
Z1177:Msh4
|
UTSW |
3 |
153879368 |
missense |
probably benign |
0.00 |
|
Z1177:Msh4
|
UTSW |
3 |
153901443 |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACGCATTGTTTTGAGGTC -3'
(R):5'- AGAGTTGACACATGCACATTGG -3'
Sequencing Primer
(F):5'- GTCCCCTGGAAAGTTTGT -3'
(R):5'- TGACACATGCACATTGGATATAAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation