Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Mlh3'

59432

Institutional Source

Beutler Lab

Gene Symbol

Mlh3

Ensembl Gene

ENSMUSG00000021245

Gene Name

mutL homolog 3

Synonyms

MMRRC Submission

038326-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0032 (G1) of strain 731

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

85281294-85317373 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 85292523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152686 (fasta)

Gene Model

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

AlphaFold

A0A1Y7VMP7

Predicted Effect

probably benign
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 benign
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 benign
Transcript: ENSMUST00000220854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223005

Predicted Effect

probably benign
Transcript: ENSMUST00000223230

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (89/89)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
Arrb1	T	C	7: 99,231,472 (GRCm39)	F9L	probably damaging	Het
Auts2	G	C	5: 131,468,931 (GRCm39)	D571E	probably damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Ccbe1	T	G	18: 66,424,723 (GRCm39)	T35P	possibly damaging	Het
Cct6b	G	T	11: 82,644,469 (GRCm39)	T202K	possibly damaging	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cdk5rap3	A	T	11: 96,799,579 (GRCm39)	L412Q	possibly damaging	Het
Cdsn	G	A	17: 35,866,452 (GRCm39)	G327D	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Clca3a2	T	A	3: 144,522,494 (GRCm39)	I176F	probably benign	Het
Cop1	T	C	1: 159,152,606 (GRCm39)		probably null	Het
Cpne8	T	A	15: 90,453,771 (GRCm39)		probably benign	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Des	A	G	1: 75,338,810 (GRCm39)	E195G	possibly damaging	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Epb41l3	G	T	17: 69,517,379 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,500 (GRCm39)	Y277C	possibly damaging	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Galnt16	T	C	12: 80,639,243 (GRCm39)	V419A	probably damaging	Het
Gm10226	A	G	17: 21,910,963 (GRCm39)	D66G	possibly damaging	Het
Gm15821	T	A	17: 34,431,199 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Impdh2	A	G	9: 108,438,860 (GRCm39)	D71G	probably damaging	Het
Ipo11	A	C	13: 106,970,971 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Iqsec3	T	C	6: 121,450,089 (GRCm39)	D145G	possibly damaging	Het
Itga11	T	C	9: 62,681,377 (GRCm39)	F998L	probably benign	Het
Junb	T	C	8: 85,704,415 (GRCm39)	H215R	probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kcnn3	CGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAG	3: 89,427,972 (GRCm39)		probably benign	Het
Krt73	T	C	15: 101,702,487 (GRCm39)	S459G	probably benign	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Meis3	C	A	7: 15,916,210 (GRCm39)		probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,439,745 (GRCm39)	E341K	probably benign	Het
Nbeal2	G	T	9: 110,466,936 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Oma1	T	A	4: 103,223,209 (GRCm39)	S465T	possibly damaging	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Or10al2	T	A	17: 37,983,378 (GRCm39)	W155R	probably damaging	Het
Or6c210	T	A	10: 129,496,269 (GRCm39)	V198D	probably benign	Het
Or8c13	A	G	9: 38,091,904 (GRCm39)	C72R	probably damaging	Het
Otog	T	A	7: 45,937,637 (GRCm39)	L1782*	probably null	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Pilra	T	A	5: 137,829,527 (GRCm39)	D179V	probably damaging	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Ppp2r1a	G	A	17: 21,165,846 (GRCm39)		probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Setmar	T	A	6: 108,053,377 (GRCm39)	C290*	probably null	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slc4a5	T	A	6: 83,250,139 (GRCm39)	I509N	probably damaging	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Snrpn	A	G	7: 59,634,830 (GRCm39)	Y168H	probably damaging	Het
Sycn	C	T	7: 28,240,717 (GRCm39)	A128V	possibly damaging	Het
Synm	C	A	7: 67,383,675 (GRCm39)	R1329M	possibly damaging	Het
Syt8	T	C	7: 141,992,926 (GRCm39)	V152A	probably benign	Het
Tcp10a	T	C	17: 7,604,306 (GRCm39)	M247T	probably benign	Het
Tjp2	A	G	19: 24,086,059 (GRCm39)	L821S	probably damaging	Het
Tppp2	G	T	14: 52,156,866 (GRCm39)	R81L	possibly damaging	Het
Trim34b	A	G	7: 103,985,784 (GRCm39)	D473G	possibly damaging	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Trpm5	A	T	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Tuba8	A	T	6: 121,202,863 (GRCm39)	D392V	probably benign	Het
Vmn1r50	C	A	6: 90,084,782 (GRCm39)	P176T	probably damaging	Het
Vmn1r76	T	C	7: 11,665,194 (GRCm39)	I7V	probably benign	Het
Vmn2r26	T	A	6: 124,016,858 (GRCm39)	W441R	possibly damaging	Het
Vmn2r57	T	C	7: 41,049,157 (GRCm39)		probably null	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	possibly damaging	Het
Znhit1	G	C	5: 137,013,901 (GRCm39)	R8G	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGAAATGACTGACAGGGGCTACAC -3'
(R):5'- ACGACTTCCAAAGGTCATAGCAGC -3'

Sequencing Primer
(F):5'- ACATGTAGCTCTAACCCCCTC -3'
(R):5'- AGAGAGTGAAGTCATGCTTGTCATC -3'

Posted On

2013-07-11