Incidental Mutation 'IGL03142:Mlh3'
ID 410741
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 # IGL03142
Quality Score
Status
Chromosome 12
Chromosomal Location 85281294-85317373 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 85297075 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

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 null
Transcript: ENSMUST00000166821
SMART Domains Protein: ENSMUSP00000129900
Gene: ENSMUSG00000021245

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 noncoding transcript
Transcript: ENSMUST00000184173
Predicted Effect probably null
Transcript: ENSMUST00000220854
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging 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
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 2016-08-02