Incidental Mutation 'R8280:Mlh1'
| ID |
638157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlh1
|
| Ensembl Gene |
ENSMUSG00000032498 |
| Gene Name |
mutL homolog 1 |
| Synonyms |
1110035C23Rik, colon cancer, nonpolyposis type 2 |
| MMRRC Submission |
067703-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
111057296-111100854 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 111078286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035079]
[ENSMUST00000135218]
[ENSMUST00000135695]
|
| AlphaFold |
Q9JK91 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035079
|
| SMART Domains |
Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
23 |
158 |
4.57e-1 |
SMART |
|
DNA_mis_repair
|
216 |
335 |
1.08e-44 |
SMART |
|
low complexity region
|
363 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
454 |
N/A |
INTRINSIC |
|
Pfam:Mlh1_C
|
504 |
760 |
8.3e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135695
|
| SMART Domains |
Protein: ENSMUSP00000119170
Gene: ENSMUSG00000032498
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HATPase_c
|
1 |
53 |
8e-33 |
BLAST |
|
SCOP:d1b63a2
|
1 |
75 |
7e-22 |
SMART |
|
PDB:4P7A|A
|
1 |
76 |
2e-47 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199404
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced pairing in meiotic prophase I and produce no mature germ cells. Mutants also display increased microsatellite instability and a predisposition for developing intestinal and other tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
G |
11: 72,086,667 (GRCm39) |
V248A |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,440,274 (GRCm39) |
I373T |
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,352,650 (GRCm39) |
M308K |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,060,851 (GRCm39) |
M3111T |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,344,839 (GRCm39) |
D1095G |
probably damaging |
Het |
| Cacna2d3 |
C |
T |
14: 28,704,328 (GRCm39) |
V818I |
probably benign |
Het |
| Ces1c |
T |
A |
8: 93,825,809 (GRCm39) |
H550L |
possibly damaging |
Het |
| Cluap1 |
A |
G |
16: 3,729,017 (GRCm39) |
|
probably benign |
Het |
| Cped1 |
G |
T |
6: 21,986,820 (GRCm39) |
R4L |
unknown |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,532 (GRCm39) |
I229T |
probably benign |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,713 (GRCm39) |
C169R |
probably damaging |
Het |
| Dip2a |
C |
T |
10: 76,100,610 (GRCm39) |
V1522M |
possibly damaging |
Het |
| Diras2 |
A |
G |
13: 52,661,863 (GRCm39) |
M148T |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,408,538 (GRCm39) |
A3508S |
probably benign |
Het |
| Fam43b |
T |
C |
4: 138,123,281 (GRCm39) |
E13G |
probably damaging |
Het |
| Farsa |
T |
G |
8: 85,587,808 (GRCm39) |
I113S |
probably damaging |
Het |
| Fcrl2 |
G |
T |
3: 87,166,364 (GRCm39) |
S137* |
probably null |
Het |
| Fer1l4 |
T |
C |
2: 155,891,620 (GRCm39) |
D114G |
probably damaging |
Het |
| Gm4181 |
A |
T |
14: 51,868,015 (GRCm39) |
*185R |
probably null |
Het |
| Gm5901 |
G |
A |
7: 105,027,105 (GRCm39) |
|
probably null |
Het |
| Heatr4 |
C |
A |
12: 84,016,670 (GRCm39) |
E532D |
probably benign |
Het |
| Il10 |
C |
T |
1: 130,947,749 (GRCm39) |
P34L |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,522,828 (GRCm39) |
E205G |
possibly damaging |
Het |
| Lilra6 |
A |
G |
7: 3,916,046 (GRCm39) |
L271P |
probably benign |
Het |
| Naaa |
T |
C |
5: 92,411,308 (GRCm39) |
Y293C |
probably damaging |
Het |
| Ndufaf7 |
G |
A |
17: 79,251,275 (GRCm39) |
G227R |
possibly damaging |
Het |
| Nmral1 |
A |
G |
16: 4,531,659 (GRCm39) |
S199P |
probably damaging |
Het |
| Or1o11 |
T |
C |
17: 37,756,744 (GRCm39) |
F100L |
probably benign |
Het |
| Or4c122 |
A |
T |
2: 89,079,234 (GRCm39) |
I268K |
probably damaging |
Het |
| Or4k2 |
A |
C |
14: 50,423,723 (GRCm39) |
L318* |
probably null |
Het |
| Or4x6 |
C |
A |
2: 89,949,742 (GRCm39) |
V67L |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,729 (GRCm39) |
I205V |
noncoding transcript |
Het |
| Or8b52 |
T |
A |
9: 38,576,783 (GRCm39) |
Y119F |
probably damaging |
Het |
| Or8g21 |
C |
T |
9: 38,906,075 (GRCm39) |
V219I |
probably benign |
Het |
| Paxbp1 |
G |
T |
16: 90,831,123 (GRCm39) |
H418N |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,813,433 (GRCm39) |
Y931C |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,315,372 (GRCm39) |
S239P |
probably benign |
Het |
| Rragd |
A |
G |
4: 32,995,112 (GRCm39) |
R76G |
probably benign |
Het |
| Samd8 |
G |
A |
14: 21,830,219 (GRCm39) |
W278* |
probably null |
Het |
| Slc22a8 |
T |
A |
19: 8,586,627 (GRCm39) |
Y379* |
probably null |
Het |
| Taar8c |
T |
A |
10: 23,976,835 (GRCm39) |
I326F |
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,890,884 (GRCm39) |
S715T |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,055,359 (GRCm39) |
I1M |
unknown |
Het |
| Trio |
A |
G |
15: 27,902,996 (GRCm39) |
I214T |
unknown |
Het |
| Uqcrfs1 |
A |
T |
13: 30,729,071 (GRCm39) |
S54T |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,038,864 (GRCm39) |
T1115A |
probably benign |
Het |
| Zscan4f |
A |
T |
7: 11,251,599 (GRCm39) |
I212F |
probably damaging |
Het |
|
| Other mutations in Mlh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Mlh1
|
APN |
9 |
111,081,980 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02530:Mlh1
|
APN |
9 |
111,058,943 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02811:Mlh1
|
APN |
9 |
111,100,582 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02892:Mlh1
|
APN |
9 |
111,082,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03394:Mlh1
|
APN |
9 |
111,097,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
andalusia
|
UTSW |
9 |
111,100,478 (GRCm39) |
makesense |
probably null |
|
|
andalusia2
|
UTSW |
9 |
111,100,591 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
andalusia3
|
UTSW |
9 |
111,058,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
ANU23:Mlh1
|
UTSW |
9 |
111,081,980 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
PIT4495001:Mlh1
|
UTSW |
9 |
111,076,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0496:Mlh1
|
UTSW |
9 |
111,070,624 (GRCm39) |
missense |
probably benign |
|
|
R0723:Mlh1
|
UTSW |
9 |
111,100,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Mlh1
|
UTSW |
9 |
111,076,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Mlh1
|
UTSW |
9 |
111,057,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Mlh1
|
UTSW |
9 |
111,058,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Mlh1
|
UTSW |
9 |
111,086,092 (GRCm39) |
intron |
probably benign |
|
|
R1885:Mlh1
|
UTSW |
9 |
111,087,624 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1992:Mlh1
|
UTSW |
9 |
111,057,631 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2186:Mlh1
|
UTSW |
9 |
111,087,634 (GRCm39) |
unclassified |
probably benign |
|
|
R2680:Mlh1
|
UTSW |
9 |
111,065,085 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4693:Mlh1
|
UTSW |
9 |
111,084,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Mlh1
|
UTSW |
9 |
111,068,866 (GRCm39) |
missense |
probably benign |
|
|
R5007:Mlh1
|
UTSW |
9 |
111,100,478 (GRCm39) |
makesense |
probably null |
|
|
R5130:Mlh1
|
UTSW |
9 |
111,058,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5166:Mlh1
|
UTSW |
9 |
111,070,581 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5265:Mlh1
|
UTSW |
9 |
111,100,591 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
R5481:Mlh1
|
UTSW |
9 |
111,058,905 (GRCm39) |
splice site |
probably null |
|
|
R5483:Mlh1
|
UTSW |
9 |
111,060,126 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5602:Mlh1
|
UTSW |
9 |
111,081,946 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5658:Mlh1
|
UTSW |
9 |
111,076,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5890:Mlh1
|
UTSW |
9 |
111,057,563 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6810:Mlh1
|
UTSW |
9 |
111,070,626 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7607:Mlh1
|
UTSW |
9 |
111,058,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Mlh1
|
UTSW |
9 |
111,081,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7894:Mlh1
|
UTSW |
9 |
111,059,145 (GRCm39) |
splice site |
probably null |
|
|
R7912:Mlh1
|
UTSW |
9 |
111,090,581 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7995:Mlh1
|
UTSW |
9 |
111,064,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Mlh1
|
UTSW |
9 |
111,085,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8804:Mlh1
|
UTSW |
9 |
111,093,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Mlh1
|
UTSW |
9 |
111,060,013 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGAAGAGTCCTCACTGGG -3'
(R):5'- GGGCATCTGATAAGGTTGCCAC -3'
Sequencing Primer
(F):5'- GCAGGATGCTGTTTCTTGACCC -3'
(R):5'- TGATAAGGTTGCCACTCCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation