Mutagenetix > Incidental Mutation

Incidental Mutation 'R8231:Mlh3'

637154

Institutional Source

Beutler Lab

Gene Symbol

Mlh3

Ensembl Gene

ENSMUSG00000021245

Gene Name

mutL homolog 3

Synonyms

MMRRC Submission

067663-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8231 (G1)

Quality Score

225.009

Status

Not validated

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 85307572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019378 (fasta)

Gene Model

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 85,000,213 (GRCm39)	R258C	probably damaging	Het
Acsf2	C	G	11: 94,452,188 (GRCm39)	E451D	probably benign	Het
Adam34	A	T	8: 44,104,659 (GRCm39)	S329T	probably benign	Het
Adamts16	A	G	13: 70,925,599 (GRCm39)	I535T	probably damaging	Het
Atp6v0d2	A	G	4: 19,881,451 (GRCm39)	F214S	probably damaging	Het
Btg4	A	G	9: 51,027,868 (GRCm39)	T13A	possibly damaging	Het
Ccdc121	T	A	5: 31,643,551 (GRCm39)	C94S	probably benign	Het
Cplane1	T	C	15: 8,248,511 (GRCm39)	Y1687H	probably benign	Het
Csmd1	A	T	8: 16,747,939 (GRCm39)	S271T	possibly damaging	Het
Cul9	T	C	17: 46,831,427 (GRCm39)	T1596A	probably damaging	Het
Cyp2a4	G	A	7: 26,012,362 (GRCm39)	D382N	probably benign	Het
Dbh	C	T	2: 27,060,555 (GRCm39)	R244C	probably benign	Het
Dennd11	A	T	6: 40,395,546 (GRCm39)	H187Q	probably benign	Het
Dnajc2	T	C	5: 21,966,689 (GRCm39)	K426R	probably benign	Het
Dock4	T	A	12: 40,752,950 (GRCm39)	M428K	possibly damaging	Het
Duox2	A	T	2: 122,120,044 (GRCm39)	M822K	possibly damaging	Het
Golga5	T	C	12: 102,438,558 (GRCm39)	V91A	probably benign	Het
Gpatch2l	T	C	12: 86,290,963 (GRCm39)	S49P	probably damaging	Het
Ints7	T	A	1: 191,328,465 (GRCm39)	L246*	probably null	Het
Kntc1	A	G	5: 123,920,959 (GRCm39)	T926A	possibly damaging	Het
Kyat1	T	C	2: 30,081,978 (GRCm39)	T54A	probably benign	Het
Megf6	C	G	4: 154,336,975 (GRCm39)	C359W	probably damaging	Het
Neb	C	A	2: 52,125,491 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,169,846 (GRCm39)	Q201L	probably benign	Het
Pibf1	T	G	14: 99,423,997 (GRCm39)	H523Q	probably benign	Het
Piezo1	A	G	8: 123,232,836 (GRCm39)	S133P		Het
Pnma8b	T	C	7: 16,680,515 (GRCm39)	C500R	probably benign	Het
Ptpra	A	G	2: 130,379,523 (GRCm39)	N359S	probably damaging	Het
Rce1	A	T	19: 4,675,078 (GRCm39)	I112N	probably damaging	Het
Rmdn1	T	C	4: 19,586,853 (GRCm39)	Y104H	probably benign	Het
Snx22	A	T	9: 65,975,480 (GRCm39)	D96E	probably benign	Het
Sox5	G	T	6: 143,974,014 (GRCm39)	Q245K	probably damaging	Het
Stat6	A	G	10: 127,482,842 (GRCm39)	D21G	possibly damaging	Het
Tbc1d15	T	C	10: 115,065,045 (GRCm39)	Y180C	probably damaging	Het
Tdrd6	T	C	17: 43,933,026 (GRCm39)	T2058A	probably damaging	Het
Thbs4	A	T	13: 92,911,352 (GRCm39)	V277E	probably benign	Het
Tmem255b	A	G	8: 13,504,225 (GRCm39)	D139G	probably damaging	Het
Ttc27	C	A	17: 75,024,959 (GRCm39)	T18K	probably benign	Het
Zfp131	A	G	13: 120,237,348 (GRCm39)	F337L	probably 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
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
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'- TGCCTTGACTAATACAGTTTGTCTCAC -3'
(R):5'- AATGGGCTTTGAAATCATGGG -3'

Sequencing Primer
(F):5'- AAAATTCACTTAGTTGGGTGTGTAGC -3'
(R):5'- ATCATGGGTAAAACAGTTGCAC -3'

Posted On

2020-07-13