Incidental Mutation 'IGL03008:Mlh3'
| ID |
407635 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mlh3
|
| Ensembl Gene |
ENSMUSG00000021245 |
| Gene Name |
mutL homolog 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03008
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
85281294-85317373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85287625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 1308
(Q1308R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019378]
[ENSMUST00000166821]
[ENSMUST00000220854]
[ENSMUST00000223230]
|
| AlphaFold |
A0A1Y7VMP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019378
AA Change: Q1308R
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000019378
Gene: ENSMUSG00000021245
AA Change: Q1308R
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
17 |
125 |
1.04e0 |
SMART |
|
DNA_mis_repair
|
211 |
349 |
8.78e-22 |
SMART |
|
low complexity region
|
582 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
882 |
N/A |
INTRINSIC |
|
low complexity region
|
1078 |
1096 |
N/A |
INTRINSIC |
|
MutL_C
|
1153 |
1334 |
7.45e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166821
AA Change: Q1308R
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129900
Gene: ENSMUSG00000021245
AA Change: Q1308R
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
17 |
125 |
1.04e0 |
SMART |
|
DNA_mis_repair
|
211 |
349 |
8.78e-22 |
SMART |
|
low complexity region
|
582 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
882 |
N/A |
INTRINSIC |
|
low complexity region
|
1078 |
1096 |
N/A |
INTRINSIC |
|
MutL_C
|
1153 |
1334 |
7.45e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220854
AA Change: Q1340R
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223230
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are sterile. Both oocytes and spermatocytes exhibit meiotic block and die. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| Ankrd34c |
C |
T |
9: 89,612,337 (GRCm39) |
M1I |
probably null |
Het |
| Ankrd44 |
T |
C |
1: 54,805,968 (GRCm39) |
H146R |
probably damaging |
Het |
| Bst1 |
A |
G |
5: 43,983,604 (GRCm39) |
|
probably null |
Het |
| Btbd8 |
T |
G |
5: 107,639,464 (GRCm39) |
|
probably null |
Het |
| Cdh12 |
A |
T |
15: 21,480,416 (GRCm39) |
I211F |
probably damaging |
Het |
| Cenpj |
G |
T |
14: 56,764,406 (GRCm39) |
D1335E |
probably benign |
Het |
| Clpx |
G |
A |
9: 65,230,057 (GRCm39) |
V502I |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,500,222 (GRCm39) |
S505P |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,262,131 (GRCm39) |
|
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,233,601 (GRCm39) |
Q819R |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,805,759 (GRCm39) |
E2190G |
possibly damaging |
Het |
| Ctsa |
G |
A |
2: 164,679,368 (GRCm39) |
R359Q |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,813,623 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
G |
T |
4: 104,584,777 (GRCm39) |
V306F |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,050,876 (GRCm39) |
I438V |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,847,699 (GRCm39) |
G380W |
probably damaging |
Het |
| Exd1 |
T |
A |
2: 119,350,862 (GRCm39) |
K466N |
probably benign |
Het |
| Eya3 |
A |
C |
4: 132,434,294 (GRCm39) |
D325A |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,195,445 (GRCm39) |
T382A |
unknown |
Het |
| Fry |
T |
A |
5: 150,269,021 (GRCm39) |
D106E |
possibly damaging |
Het |
| Gm21957 |
T |
A |
7: 124,818,733 (GRCm39) |
|
noncoding transcript |
Het |
| Gm44511 |
A |
G |
6: 128,761,059 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,155,982 (GRCm39) |
I983V |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,058,675 (GRCm39) |
D5E |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,293 (GRCm39) |
E225G |
unknown |
Het |
| Ltbp4 |
G |
T |
7: 27,023,789 (GRCm39) |
N747K |
probably damaging |
Het |
| Minar1 |
A |
G |
9: 89,478,731 (GRCm39) |
Y772H |
probably damaging |
Het |
| Mtfr2 |
T |
A |
10: 20,229,185 (GRCm39) |
C63S |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,022,617 (GRCm39) |
M1661L |
probably benign |
Het |
| Myo1c |
T |
C |
11: 75,549,240 (GRCm39) |
M137T |
probably benign |
Het |
| Myocd |
A |
C |
11: 65,078,392 (GRCm39) |
L340V |
probably damaging |
Het |
| Napsa |
A |
T |
7: 44,235,220 (GRCm39) |
Q335L |
possibly damaging |
Het |
| Nlrp4b |
C |
A |
7: 10,448,516 (GRCm39) |
Q240K |
probably benign |
Het |
| Npepps |
A |
C |
11: 97,128,984 (GRCm39) |
F400C |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,304,738 (GRCm39) |
E275V |
probably benign |
Het |
| Ofd1 |
T |
C |
X: 165,192,530 (GRCm39) |
D501G |
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,903,445 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or4f6 |
A |
G |
2: 111,838,868 (GRCm39) |
I221T |
possibly damaging |
Het |
| Or5p79 |
T |
G |
7: 108,221,490 (GRCm39) |
L157R |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,678 (GRCm39) |
M136K |
probably damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,947 (GRCm39) |
T29S |
probably benign |
Het |
| Papss1 |
T |
C |
3: 131,290,860 (GRCm39) |
V201A |
possibly damaging |
Het |
| Paxip1 |
A |
G |
5: 27,957,764 (GRCm39) |
V864A |
probably benign |
Het |
| Pcdhgc5 |
T |
A |
18: 37,954,887 (GRCm39) |
H720Q |
probably benign |
Het |
| Pdxdc1 |
T |
C |
16: 13,694,023 (GRCm39) |
N133S |
possibly damaging |
Het |
| Prkar1a |
T |
C |
11: 109,544,690 (GRCm39) |
I27T |
probably damaging |
Het |
| Rnf10 |
G |
T |
5: 115,389,355 (GRCm39) |
H271N |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,392,855 (GRCm39) |
S246P |
probably damaging |
Het |
| Sertad2 |
G |
T |
11: 20,597,798 (GRCm39) |
|
probably benign |
Het |
| Slc22a27 |
A |
G |
19: 7,887,067 (GRCm39) |
I274T |
possibly damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,782,058 (GRCm39) |
V103E |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,748,138 (GRCm39) |
F225I |
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,706,404 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
A |
G |
11: 60,669,287 (GRCm39) |
E145G |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,203,448 (GRCm39) |
D1726E |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,658,844 (GRCm39) |
N144Y |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,061,783 (GRCm39) |
H156R |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tas2r138 |
A |
C |
6: 40,590,116 (GRCm39) |
D43E |
probably damaging |
Het |
| Tdpoz3 |
A |
T |
3: 93,733,642 (GRCm39) |
K106* |
probably null |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,229 (GRCm39) |
D54G |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,165,932 (GRCm39) |
V218A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,611,203 (GRCm39) |
T15697I |
probably damaging |
Het |
| Ugt2b38 |
G |
A |
5: 87,560,282 (GRCm39) |
T344I |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,908 (GRCm39) |
M168V |
probably benign |
Het |
| Wdr11 |
T |
C |
7: 129,208,715 (GRCm39) |
|
probably benign |
Het |
| Wipf2 |
T |
C |
11: 98,783,554 (GRCm39) |
|
probably benign |
Het |
| Zranb2 |
T |
A |
3: 157,252,302 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mlh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Mlh3
|
APN |
12 |
85,314,703 (GRCm39) |
missense |
probably benign |
|
|
IGL01462:Mlh3
|
APN |
12 |
85,313,510 (GRCm39) |
missense |
probably benign |
|
|
IGL01961:Mlh3
|
APN |
12 |
85,313,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02596:Mlh3
|
APN |
12 |
85,287,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03142:Mlh3
|
APN |
12 |
85,297,075 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0032:Mlh3
|
UTSW |
12 |
85,292,523 (GRCm39) |
intron |
probably benign |
|
|
R0032:Mlh3
|
UTSW |
12 |
85,292,523 (GRCm39) |
intron |
probably benign |
|
|
R0078:Mlh3
|
UTSW |
12 |
85,315,592 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0129:Mlh3
|
UTSW |
12 |
85,312,914 (GRCm39) |
splice site |
probably benign |
|
|
R0269:Mlh3
|
UTSW |
12 |
85,315,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0393:Mlh3
|
UTSW |
12 |
85,314,361 (GRCm39) |
nonsense |
probably null |
|
|
R0403:Mlh3
|
UTSW |
12 |
85,315,742 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0409:Mlh3
|
UTSW |
12 |
85,287,628 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0587:Mlh3
|
UTSW |
12 |
85,313,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0701:Mlh3
|
UTSW |
12 |
85,314,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0718:Mlh3
|
UTSW |
12 |
85,294,471 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0883:Mlh3
|
UTSW |
12 |
85,282,488 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0989:Mlh3
|
UTSW |
12 |
85,316,169 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0990:Mlh3
|
UTSW |
12 |
85,314,539 (GRCm39) |
missense |
probably benign |
|
|
R1467:Mlh3
|
UTSW |
12 |
85,284,374 (GRCm39) |
nonsense |
probably null |
|
|
R1467:Mlh3
|
UTSW |
12 |
85,284,374 (GRCm39) |
nonsense |
probably null |
|
|
R1562:Mlh3
|
UTSW |
12 |
85,313,694 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1599:Mlh3
|
UTSW |
12 |
85,315,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Mlh3
|
UTSW |
12 |
85,313,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Mlh3
|
UTSW |
12 |
85,315,528 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1822:Mlh3
|
UTSW |
12 |
85,312,919 (GRCm39) |
splice site |
probably benign |
|
|
R1874:Mlh3
|
UTSW |
12 |
85,284,287 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1914:Mlh3
|
UTSW |
12 |
85,308,442 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1915:Mlh3
|
UTSW |
12 |
85,308,442 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2075:Mlh3
|
UTSW |
12 |
85,315,915 (GRCm39) |
nonsense |
probably null |
|
|
R2083:Mlh3
|
UTSW |
12 |
85,315,815 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2267:Mlh3
|
UTSW |
12 |
85,307,585 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2334:Mlh3
|
UTSW |
12 |
85,314,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2882:Mlh3
|
UTSW |
12 |
85,314,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Mlh3
|
UTSW |
12 |
85,315,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3624:Mlh3
|
UTSW |
12 |
85,315,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3963:Mlh3
|
UTSW |
12 |
85,315,454 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4376:Mlh3
|
UTSW |
12 |
85,305,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5334:Mlh3
|
UTSW |
12 |
85,292,535 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5526:Mlh3
|
UTSW |
12 |
85,316,147 (GRCm39) |
nonsense |
probably null |
|
|
R5556:Mlh3
|
UTSW |
12 |
85,315,267 (GRCm39) |
nonsense |
probably null |
|
|
R5611:Mlh3
|
UTSW |
12 |
85,314,219 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5911:Mlh3
|
UTSW |
12 |
85,315,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6050:Mlh3
|
UTSW |
12 |
85,287,620 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6221:Mlh3
|
UTSW |
12 |
85,315,192 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6377:Mlh3
|
UTSW |
12 |
85,315,271 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6820:Mlh3
|
UTSW |
12 |
85,294,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Mlh3
|
UTSW |
12 |
85,292,598 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6992:Mlh3
|
UTSW |
12 |
85,282,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7217:Mlh3
|
UTSW |
12 |
85,313,481 (GRCm39) |
missense |
probably benign |
|
|
R7228:Mlh3
|
UTSW |
12 |
85,282,430 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7348:Mlh3
|
UTSW |
12 |
85,314,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7599:Mlh3
|
UTSW |
12 |
85,314,973 (GRCm39) |
nonsense |
probably null |
|
|
R7722:Mlh3
|
UTSW |
12 |
85,314,266 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7762:Mlh3
|
UTSW |
12 |
85,315,058 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7786:Mlh3
|
UTSW |
12 |
85,313,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8231:Mlh3
|
UTSW |
12 |
85,307,572 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8415:Mlh3
|
UTSW |
12 |
85,315,854 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8750:Mlh3
|
UTSW |
12 |
85,308,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8794:Mlh3
|
UTSW |
12 |
85,282,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Mlh3
|
UTSW |
12 |
85,292,613 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9385:Mlh3
|
UTSW |
12 |
85,316,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9518:Mlh3
|
UTSW |
12 |
85,313,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9549:Mlh3
|
UTSW |
12 |
85,313,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF014:Mlh3
|
UTSW |
12 |
85,314,803 (GRCm39) |
missense |
probably benign |
|
|
X0024:Mlh3
|
UTSW |
12 |
85,294,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation