Incidental Mutation 'R0990:Mlh3'
ID 97654
Institutional Source Beutler Lab
Gene Symbol Mlh3
Ensembl Gene ENSMUSG00000021245
Gene Name mutL homolog 3
Synonyms
MMRRC Submission 039110-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0990 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85281294-85317373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85314539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 549 (D549G)
Ref Sequence ENSEMBL: ENSMUSP00000152840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008966] [ENSMUST00000019378] [ENSMUST00000117138] [ENSMUST00000121930] [ENSMUST00000166821] [ENSMUST00000220854] [ENSMUST00000223230]
AlphaFold A0A1Y7VMP7
Predicted Effect probably benign
Transcript: ENSMUST00000008966
SMART Domains Protein: ENSMUSP00000008966
Gene: ENSMUSG00000008822

DomainStartEndE-ValueType
Pfam:Acylphosphatase 1 98 6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019378
AA Change: D549G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019378
Gene: ENSMUSG00000021245
AA Change: D549G

DomainStartEndE-ValueType
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: ENSMUST00000117138
SMART Domains Protein: ENSMUSP00000113161
Gene: ENSMUSG00000008822

DomainStartEndE-ValueType
Pfam:Acylphosphatase 1 98 6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121930
SMART Domains Protein: ENSMUSP00000112609
Gene: ENSMUSG00000008822

DomainStartEndE-ValueType
Pfam:Acylphosphatase 64 156 4.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166821
AA Change: D549G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129900
Gene: ENSMUSG00000021245
AA Change: D549G

DomainStartEndE-ValueType
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: ENSMUST00000220854
AA Change: D549G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223230
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.1%
  • 20x: 86.0%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 T C 8: 89,052,080 (GRCm39) V916A possibly damaging Het
Ank2 T C 3: 126,728,315 (GRCm39) I759M possibly damaging Het
Arhgap32 A G 9: 32,166,677 (GRCm39) D438G probably damaging Het
Arhgef12 T C 9: 42,883,677 (GRCm39) Y1285C probably benign Het
Cfap65 A G 1: 74,960,678 (GRCm39) V764A possibly damaging Het
Cog8 T A 8: 107,779,119 (GRCm39) probably null Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fbxo24 T C 5: 137,616,701 (GRCm39) N394S probably damaging Het
Gm9938 A G 19: 23,701,956 (GRCm39) probably benign Het
Iars2 A G 1: 185,050,824 (GRCm39) F422L probably damaging Het
Marchf3 A T 18: 56,940,870 (GRCm39) C87S probably damaging Het
Mettl2 T A 11: 105,028,570 (GRCm39) Y307* probably null Het
Muc4 A G 16: 32,752,722 (GRCm38) T867A probably benign Het
Nup210l A T 3: 90,119,232 (GRCm39) T1852S probably benign Het
Or5aq1 T A 2: 86,966,086 (GRCm39) H193L possibly damaging Het
Pdk4 A T 6: 5,485,577 (GRCm39) S371T probably benign Het
Pkm A G 9: 59,585,379 (GRCm39) T454A probably damaging Het
Satb2 G A 1: 56,889,343 (GRCm39) S340F probably damaging Het
Scel G A 14: 103,819,268 (GRCm39) V354I possibly damaging Het
Setdb1 T C 3: 95,247,576 (GRCm39) T440A probably benign Het
Sgk1 T C 10: 21,872,985 (GRCm39) F230S probably damaging Het
Slc22a23 A T 13: 34,379,450 (GRCm39) I439N probably damaging Het
Slc9a5 G A 8: 106,086,078 (GRCm39) R615Q probably damaging Het
Smad1 T A 8: 80,070,417 (GRCm39) I374F probably damaging Het
Tgm4 A G 9: 122,875,576 (GRCm39) E143G probably benign Het
Vmn2r53 A G 7: 12,315,429 (GRCm39) S797P probably benign Het
Other mutations in Mlh3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCTGTCTGGAGTCTCAATTGCATGG -3'
(R):5'- CAGTGCTTACTTAGAACCGAGGGTG -3'

Sequencing Primer
(F):5'- TTCTTGGGCACTTACAGGAC -3'
(R):5'- CTTAGAACCGAGGGTGTCAGAAG -3'
Posted On 2014-01-05