Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02596:Mlh3'

299878

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) question?

Stock #

IGL02596

Quality Score

Status

Chromosome

Chromosomal Location

85281294-85317373 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 85287732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019378] [ENSMUST00000166821] [ENSMUST00000220854] [ENSMUST00000223230]

AlphaFold

A0A1Y7VMP7

Predicted Effect

probably null
Transcript: ENSMUST00000019378

SMART Domains

Protein: ENSMUSP00000019378
Gene: ENSMUSG00000021245

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 null
Transcript: ENSMUST00000166821

SMART Domains

Protein: ENSMUSP00000129900
Gene: ENSMUSG00000021245

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

noncoding transcript
Transcript: ENSMUST00000184173

Predicted Effect

probably null
Transcript: ENSMUST00000220854

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	T	G	4: 73,868,904 (GRCm39)	Q11H	possibly damaging	Het
Armcx5	T	A	X: 134,647,268 (GRCm39)	I448K	probably damaging	Het
Atp4b	T	A	8: 13,443,471 (GRCm39)	Y69F	possibly damaging	Het
Ccdc7b	T	A	8: 129,798,959 (GRCm39)	V12E	probably benign	Het
Cdc5l	C	A	17: 45,735,530 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,761,785 (GRCm39)	R330C	probably benign	Het
Cpq	C	T	15: 33,213,160 (GRCm39)	R60W	probably damaging	Het
Cpvl	T	C	6: 53,908,995 (GRCm39)	Y256C	probably damaging	Het
Cryzl2	A	T	1: 157,292,539 (GRCm39)	D107V	probably damaging	Het
Cyp2e1	G	A	7: 140,350,031 (GRCm39)	V239M	probably damaging	Het
Cyp2j7	T	A	4: 96,103,659 (GRCm39)	D292V	possibly damaging	Het
Dcaf1	A	G	9: 106,740,220 (GRCm39)	Y1202C	probably damaging	Het
Dnah3	T	C	7: 119,538,137 (GRCm39)	N3616S	probably benign	Het
Enam	A	G	5: 88,650,885 (GRCm39)	D723G	probably benign	Het
Eps8l1	G	A	7: 4,473,871 (GRCm39)	R226H	probably damaging	Het
Erich2	A	G	2: 70,343,147 (GRCm39)		probably benign	Het
Esyt3	A	C	9: 99,210,068 (GRCm39)	L271V	probably benign	Het
Fer1l4	T	C	2: 155,881,052 (GRCm39)	N838S	probably benign	Het
Gad1	T	C	2: 70,425,028 (GRCm39)	Y441H	probably damaging	Het
Gja1	G	T	10: 56,264,348 (GRCm39)	V236F	possibly damaging	Het
Gpr156	T	C	16: 37,799,086 (GRCm39)	I100T	probably benign	Het
Hace1	A	G	10: 45,576,736 (GRCm39)	T803A	possibly damaging	Het
Jagn1	G	A	6: 113,424,562 (GRCm39)	V145I	probably benign	Het
Kdm4b	C	A	17: 56,706,706 (GRCm39)	T899K	probably benign	Het
Klk1b8	G	A	7: 43,602,187 (GRCm39)	V40M	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mast1	G	T	8: 85,644,400 (GRCm39)	A843E	probably benign	Het
Mbd1	T	A	18: 74,409,868 (GRCm39)		probably benign	Het
Mdga1	A	G	17: 30,051,379 (GRCm39)		probably benign	Het
Or10ag53	C	A	2: 87,082,473 (GRCm39)	T64K	probably damaging	Het
Or5b109	A	T	19: 13,211,763 (GRCm39)	I50F	probably damaging	Het
Pwp1	A	G	10: 85,707,882 (GRCm39)		probably null	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Slc12a7	T	A	13: 73,933,242 (GRCm39)	V100E	probably benign	Het
Spata31e2	T	A	1: 26,723,083 (GRCm39)	H699L	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tgfb1i1	T	A	7: 127,848,068 (GRCm39)	M1K	probably null	Het
Tubgcp6	T	A	15: 88,985,117 (GRCm39)	E1657V	probably damaging	Het
Zfp770	A	G	2: 114,026,308 (GRCm39)	V587A	probably benign	Het
Zxdc	A	G	6: 90,350,691 (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
IGL03008:Mlh3	APN	12	85,287,625 (GRCm39)	missense	probably benign	0.23
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

2015-04-16