Mutagenetix > Incidental Mutation

Incidental Mutation 'R1467:Mlh3'

164608

Institutional Source

Beutler Lab

Gene Symbol

Mlh3

Ensembl Gene

ENSMUSG00000021245

Gene Name

mutL homolog 3

Synonyms

MMRRC Submission

039520-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1467 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85281294-85317373 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 85284374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1380 (L1380*)

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
AA Change: L1348*

SMART Domains

Protein: ENSMUSP00000019378
Gene: ENSMUSG00000021245
AA Change: L1348*

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
AA Change: L1348*

SMART Domains

Protein: ENSMUSP00000129900
Gene: ENSMUSG00000021245
AA Change: L1348*

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: ENSMUST00000220854
AA Change: L1380*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223005

Predicted Effect

probably benign
Transcript: ENSMUST00000223230

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.1%
10x: 88.5%
20x: 62.9%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	A	9: 124,058,093 (GRCm39)	V9L	possibly damaging	Het
A630010A05Rik	C	A	16: 14,436,447 (GRCm39)	L167I	possibly damaging	Het
Abca14	A	T	7: 119,815,405 (GRCm39)	M218L	possibly damaging	Het
Abca15	C	A	7: 119,939,761 (GRCm39)		probably null	Het
Acod1	T	C	14: 103,292,003 (GRCm39)	F176L	probably benign	Het
Actr5	A	G	2: 158,480,617 (GRCm39)	H545R	probably benign	Het
Adcy1	A	G	11: 7,088,396 (GRCm39)	T472A	probably damaging	Het
Aldh1l1	A	G	6: 90,548,910 (GRCm39)	K469R	possibly damaging	Het
Ambra1	A	T	2: 91,716,048 (GRCm39)	Q853L	probably damaging	Het
Apol7e	G	T	15: 77,601,966 (GRCm39)	G188V	probably damaging	Het
AU018091	A	T	7: 3,214,089 (GRCm39)	W43R	probably benign	Het
Baat	A	G	4: 49,503,101 (GRCm39)	V7A	probably benign	Het
Bcas1	C	A	2: 170,229,852 (GRCm39)	Q249H	possibly damaging	Het
Bltp1	T	A	3: 37,090,094 (GRCm39)	V676D	probably damaging	Het
Bptf	G	T	11: 106,945,881 (GRCm39)	Q2453K	possibly damaging	Het
Btg3	A	G	16: 78,161,688 (GRCm39)		probably null	Het
Cacna2d3	T	C	14: 29,055,736 (GRCm39)	N298S	possibly damaging	Het
Carf	G	A	1: 60,167,152 (GRCm39)	V127I	possibly damaging	Het
Catsperg1	T	C	7: 28,884,433 (GRCm39)	S916G	probably damaging	Het
Cers1	T	C	8: 70,775,819 (GRCm39)	S274P	possibly damaging	Het
Ces4a	T	A	8: 105,864,667 (GRCm39)	V48E	possibly damaging	Het
Cfap54	T	A	10: 92,805,625 (GRCm39)	H1495L	probably benign	Het
Cntnap5a	T	A	1: 115,612,898 (GRCm39)	L11*	probably null	Het
Cr2	C	T	1: 194,839,817 (GRCm39)	G913R	probably damaging	Het
Cul9	A	G	17: 46,836,299 (GRCm39)	L1155P	probably damaging	Het
Dlec1	A	T	9: 118,971,646 (GRCm39)	D1278V	probably damaging	Het
Dmrt2	A	G	19: 25,650,970 (GRCm39)	E52G	possibly damaging	Het
Dsp	A	G	13: 38,376,688 (GRCm39)	K1491R	probably benign	Het
Ecpas	A	G	4: 58,832,753 (GRCm39)	V869A	probably benign	Het
Eef1d	A	T	15: 75,767,770 (GRCm39)	D206E	probably damaging	Het
Erbb2	C	T	11: 98,327,001 (GRCm39)	Q1137*	probably null	Het
Ercc2	T	A	7: 19,119,811 (GRCm39)	D157E	probably benign	Het
Eri1	A	G	8: 35,936,284 (GRCm39)	*346Q	probably null	Het
Espl1	A	G	15: 102,228,293 (GRCm39)	E1689G	probably benign	Het
Fap	C	T	2: 62,347,964 (GRCm39)	V539I	probably benign	Het
Fasn	A	G	11: 120,701,866 (GRCm39)	F1871S	probably benign	Het
Gabpb1	T	G	2: 126,494,247 (GRCm39)	Y126S	probably damaging	Het
Grm1	T	C	10: 10,595,702 (GRCm39)	Y642C	probably damaging	Het
Heatr4	T	C	12: 84,024,841 (GRCm39)	T327A	possibly damaging	Het
Hmbox1	T	C	14: 65,099,027 (GRCm39)	D212G	possibly damaging	Het
Hmcn1	T	A	1: 150,565,341 (GRCm39)	D2262V	probably damaging	Het
Hoxb9	A	G	11: 96,162,764 (GRCm39)	T133A	probably benign	Het
Insr	A	T	8: 3,219,720 (GRCm39)	V934E	probably damaging	Het
Ipo9	T	C	1: 135,334,281 (GRCm39)	E315G	possibly damaging	Het
Itga10	C	T	3: 96,559,545 (GRCm39)	Q481*	probably null	Het
Kntc1	T	A	5: 123,925,047 (GRCm39)	M1120K	probably benign	Het
Krt78	A	G	15: 101,854,728 (GRCm39)	Y1028H	possibly damaging	Het
Lrrc38	A	T	4: 143,096,450 (GRCm39)	I254F	probably damaging	Het
Lyrm7	A	G	11: 54,741,215 (GRCm39)	F40L	probably damaging	Het
Mfsd4b1	C	T	10: 39,878,631 (GRCm39)	S422N	possibly damaging	Het
Mrpl24	C	A	3: 87,829,744 (GRCm39)	A110D	probably benign	Het
Mrps14	T	C	1: 160,024,520 (GRCm39)	V17A	probably benign	Het
Mtcl1	T	C	17: 66,755,322 (GRCm39)	D340G	probably damaging	Het
Neb	T	C	2: 52,120,059 (GRCm39)	Y3900C	probably damaging	Het
Neurod4	T	C	10: 130,106,473 (GRCm39)	D267G	probably benign	Het
Nf1	A	T	11: 79,319,452 (GRCm39)	I536F	possibly damaging	Het
Nkg7	C	T	7: 43,086,857 (GRCm39)	P44S	probably damaging	Het
Or14c40	T	C	7: 86,313,185 (GRCm39)	V105A	possibly damaging	Het
Or4a67	T	C	2: 88,597,832 (GRCm39)	I276V	probably benign	Het
Pcif1	T	C	2: 164,731,058 (GRCm39)	Y404H	probably benign	Het
Pcnx2	A	T	8: 126,480,289 (GRCm39)	L2006Q	possibly damaging	Het
Pcnx3	A	T	19: 5,724,922 (GRCm39)	S821T	possibly damaging	Het
Pde8b	T	A	13: 95,170,680 (GRCm39)	D662V	probably damaging	Het
Pkd1l3	C	T	8: 110,343,000 (GRCm39)	P113S	unknown	Het
Pkd2l1	G	T	19: 44,142,648 (GRCm39)	Q465K	possibly damaging	Het
Plch2	G	T	4: 155,068,189 (GRCm39)	P1479Q	probably benign	Het
Plekhm3	A	T	1: 64,932,041 (GRCm39)	I521N	probably damaging	Het
Pola2	A	T	19: 5,992,093 (GRCm39)	Y526*	probably null	Het
Prss23	T	C	7: 89,159,217 (GRCm39)	D284G	probably damaging	Het
Psme2b	A	G	11: 48,836,467 (GRCm39)	F160S	probably damaging	Het
Rap1gap2	A	G	11: 74,327,853 (GRCm39)	V139A	possibly damaging	Het
Rbbp9	G	T	2: 144,385,777 (GRCm39)	R163S	possibly damaging	Het
Rdh12	T	C	12: 79,260,522 (GRCm39)	L206P	probably damaging	Het
Rhou	T	C	8: 124,388,029 (GRCm39)	W254R	possibly damaging	Het
Scfd1	A	G	12: 51,478,281 (GRCm39)	K498E	possibly damaging	Het
Scn7a	A	G	2: 66,519,902 (GRCm39)	Y1001H	probably benign	Het
Setx	T	A	2: 29,048,917 (GRCm39)	V1981E	probably damaging	Het
Sfxn1	T	C	13: 54,247,890 (GRCm39)	I205T	possibly damaging	Het
Shld2	G	T	14: 33,990,619 (GRCm39)	H96N	possibly damaging	Het
Speer1g	C	T	5: 11,180,337 (GRCm39)	H82Y	probably damaging	Het
Spock1	G	A	13: 57,577,182 (GRCm39)	R416C	possibly damaging	Het
Spred2	A	G	11: 19,968,109 (GRCm39)	I222V	probably benign	Het
Stkld1	A	T	2: 26,839,407 (GRCm39)	T358S	probably benign	Het
Strip1	T	C	3: 107,534,724 (GRCm39)	E102G	possibly damaging	Het
Tars3	T	C	7: 65,305,444 (GRCm39)	S223P	probably damaging	Het
Tdpoz1	T	A	3: 93,578,637 (GRCm39)	E49V	probably benign	Het
Tert	A	G	13: 73,776,328 (GRCm39)	T360A	probably benign	Het
Tspear	A	G	10: 77,717,026 (GRCm39)	Y567C	probably damaging	Het
Ttc28	A	G	5: 111,433,254 (GRCm39)	Q2096R	probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn2r111	T	A	17: 22,790,028 (GRCm39)	H326L	probably damaging	Het
Vmn2r18	A	G	5: 151,510,301 (GRCm39)	F24S	possibly damaging	Het
Vmn2r82	A	T	10: 79,232,133 (GRCm39)	I711F	probably benign	Het
Vwa8	C	T	14: 79,341,134 (GRCm39)	Q1537*	probably null	Het
Wdr64	G	A	1: 175,603,288 (GRCm39)	V630I	probably benign	Het
Wnt6	G	T	1: 74,821,434 (GRCm39)	W84L	probably damaging	Het
Zfp11	C	A	5: 129,735,254 (GRCm39)	R69L	probably benign	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
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'- ATGCATGAGCCAAATTGGCCCC -3'
(R):5'- TGAAGACTGAGGCTGTCCCATAACC -3'

Sequencing Primer
(F):5'- CAAATTGGCCCCCCTCC -3'
(R):5'- TGTCCCATAACCCCAGGTG -3'

Posted On

2014-03-28