Incidental Mutation 'IGL02223:Scmh1'
ID 285205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scmh1
Ensembl Gene ENSMUSG00000000085
Gene Name sex comb on midleg homolog 1
Synonyms Scml3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02223
Quality Score
Status
Chromosome 4
Chromosomal Location 120262478-120387383 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120372416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 406 (H406Q)
Ref Sequence ENSEMBL: ENSMUSP00000101908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000087] [ENSMUST00000064991] [ENSMUST00000106298] [ENSMUST00000106301]
AlphaFold Q8K214
Predicted Effect probably benign
Transcript: ENSMUST00000000087
AA Change: H406Q

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085
AA Change: H406Q

DomainStartEndE-ValueType
MBT 28 126 2.47e-48 SMART
MBT 134 235 1.36e-45 SMART
low complexity region 268 285 N/A INTRINSIC
low complexity region 301 340 N/A INTRINSIC
Pfam:DUF3588 354 468 4.3e-50 PFAM
SAM 594 662 1.8e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064991
AA Change: H406Q

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085
AA Change: H406Q

DomainStartEndE-ValueType
MBT 28 126 2.47e-48 SMART
MBT 134 235 1.36e-45 SMART
low complexity region 268 285 N/A INTRINSIC
low complexity region 301 340 N/A INTRINSIC
Pfam:DUF3588 357 465 5.8e-39 PFAM
SAM 594 662 1.57e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106298
AA Change: H406Q

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085
AA Change: H406Q

DomainStartEndE-ValueType
MBT 28 126 2.47e-48 SMART
MBT 134 235 1.36e-45 SMART
low complexity region 268 285 N/A INTRINSIC
low complexity region 301 340 N/A INTRINSIC
Pfam:DUF3588 354 468 4.3e-50 PFAM
SAM 594 662 1.8e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106301
AA Change: H406Q

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085
AA Change: H406Q

DomainStartEndE-ValueType
MBT 28 126 2.47e-48 SMART
MBT 134 235 1.36e-45 SMART
low complexity region 268 285 N/A INTRINSIC
low complexity region 301 340 N/A INTRINSIC
Pfam:DUF3588 354 468 4.7e-50 PFAM
SAM 594 662 1.57e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122860
SMART Domains Protein: ENSMUSP00000120950
Gene: ENSMUSG00000000085

DomainStartEndE-ValueType
Pfam:DUF3588 60 120 4.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144555
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an allele lacking the SPM domain exhibit partial penetrance of posterior vertebral transformations and male infertility with azoospermia and arrest of spermatogenesis. Mice homozygous for a knock-out allele exhibit abnormal hematopoiesis but normal fertility and skeleton. [provided by MGI curators]
Allele List at MGI

All alleles(67) : Targeted(4) Gene trapped(63)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,506,909 (GRCm39) W1148* probably null Het
Adam17 A G 12: 21,411,706 (GRCm39) S62P possibly damaging Het
Akap8 T C 17: 32,535,621 (GRCm39) Y131C probably damaging Het
Ccdc169 A G 3: 55,049,721 (GRCm39) N48S probably benign Het
Ccdc80 A G 16: 44,915,966 (GRCm39) T241A probably damaging Het
Cct7 G T 6: 85,439,023 (GRCm39) M112I probably benign Het
Cftr G A 6: 18,221,481 (GRCm39) A198T probably damaging Het
Crk T C 11: 75,594,205 (GRCm39) V264A probably damaging Het
Dhx34 T C 7: 15,932,584 (GRCm39) T1071A probably benign Het
Dlst A G 12: 85,177,692 (GRCm39) I362V probably benign Het
Fat2 T C 11: 55,163,955 (GRCm39) E3100G probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Foxe3 C A 4: 114,782,906 (GRCm39) R102L probably damaging Het
Gale T C 4: 135,693,817 (GRCm39) F162S probably damaging Het
Gipc2 G A 3: 151,833,687 (GRCm39) P198L probably damaging Het
Gm5258 A G 1: 86,251,118 (GRCm39) noncoding transcript Het
Gpatch11 A G 17: 79,152,608 (GRCm39) T259A probably benign Het
H2-M10.3 T C 17: 36,678,972 (GRCm39) N32S possibly damaging Het
Hdlbp T C 1: 93,340,171 (GRCm39) I999V probably damaging Het
Ibtk A G 9: 85,592,419 (GRCm39) probably benign Het
Ift46 A G 9: 44,697,609 (GRCm39) S165G probably damaging Het
Igsf1 A G X: 48,873,897 (GRCm39) S389P probably damaging Het
Lrrd1 A C 5: 3,900,211 (GRCm39) N172T probably benign Het
Mamdc2 G A 19: 23,336,507 (GRCm39) probably benign Het
Matn2 A G 15: 34,423,864 (GRCm39) N574S probably benign Het
Med1 T C 11: 98,048,702 (GRCm39) D683G probably damaging Het
Mon1a A G 9: 107,778,484 (GRCm39) E236G probably damaging Het
Moxd2 T A 6: 40,861,967 (GRCm39) I202F probably damaging Het
Nif3l1 T A 1: 58,487,202 (GRCm39) Y129* probably null Het
Nlrp5 T C 7: 23,129,447 (GRCm39) probably benign Het
Odad3 G A 9: 21,904,908 (GRCm39) R293C probably damaging Het
Or5k14 C T 16: 58,693,057 (GRCm39) G152E probably damaging Het
Pcx T C 19: 4,652,006 (GRCm39) Y84H probably damaging Het
Pom121l2 T C 13: 22,166,265 (GRCm39) S179P probably benign Het
Rexo4 C A 2: 26,845,511 (GRCm39) C369F probably damaging Het
Rigi T C 4: 40,209,993 (GRCm39) N692D possibly damaging Het
Slc12a8 A G 16: 33,445,060 (GRCm39) D372G probably damaging Het
Snip1 T C 4: 124,966,545 (GRCm39) F325S possibly damaging Het
Spr-ps1 C T 6: 85,132,181 (GRCm39) noncoding transcript Het
Stk36 A G 1: 74,662,496 (GRCm39) Y538C possibly damaging Het
Svil A G 18: 5,105,879 (GRCm39) probably benign Het
Syne2 A G 12: 76,155,079 (GRCm39) T6787A probably benign Het
Tbcel T G 9: 42,363,014 (GRCm39) M10L probably benign Het
Tesk2 T A 4: 116,599,022 (GRCm39) Y43* probably null Het
Tjp1 C T 7: 64,972,349 (GRCm39) R605Q probably damaging Het
Tmem65 A G 15: 58,662,000 (GRCm39) probably benign Het
Tnnt2 A G 1: 135,769,753 (GRCm39) probably benign Het
Trmt44 T C 5: 35,731,989 (GRCm39) E134G probably benign Het
Trpv2 T C 11: 62,472,081 (GRCm39) L91P probably benign Het
Ttn G A 2: 76,807,463 (GRCm39) T90I probably damaging Het
Yy1 A G 12: 108,759,466 (GRCm39) E43G unknown Het
Other mutations in Scmh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Scmh1 APN 4 120,387,097 (GRCm39) utr 3 prime probably benign
IGL01962:Scmh1 APN 4 120,340,781 (GRCm39) splice site probably benign
IGL02013:Scmh1 APN 4 120,340,929 (GRCm39) missense possibly damaging 0.77
IGL02081:Scmh1 APN 4 120,372,275 (GRCm39) missense probably damaging 1.00
IGL02530:Scmh1 APN 4 120,385,343 (GRCm39) splice site probably benign
IGL02887:Scmh1 APN 4 120,325,586 (GRCm39) missense probably damaging 1.00
P0024:Scmh1 UTSW 4 120,335,231 (GRCm39) missense probably damaging 1.00
R0164:Scmh1 UTSW 4 120,387,062 (GRCm39) unclassified probably benign
R0164:Scmh1 UTSW 4 120,387,062 (GRCm39) unclassified probably benign
R0200:Scmh1 UTSW 4 120,341,028 (GRCm39) missense probably damaging 0.99
R1598:Scmh1 UTSW 4 120,372,327 (GRCm39) missense possibly damaging 0.83
R1624:Scmh1 UTSW 4 120,386,425 (GRCm39) missense probably damaging 1.00
R2276:Scmh1 UTSW 4 120,340,869 (GRCm39) missense probably damaging 1.00
R3734:Scmh1 UTSW 4 120,335,277 (GRCm39) missense probably damaging 1.00
R4167:Scmh1 UTSW 4 120,386,473 (GRCm39) intron probably benign
R4570:Scmh1 UTSW 4 120,385,495 (GRCm39) missense probably damaging 1.00
R5458:Scmh1 UTSW 4 120,362,478 (GRCm39) unclassified probably benign
R5564:Scmh1 UTSW 4 120,325,575 (GRCm39) missense probably damaging 1.00
R5700:Scmh1 UTSW 4 120,374,143 (GRCm39) missense probably benign 0.10
R5991:Scmh1 UTSW 4 120,379,817 (GRCm39) missense probably benign
R5999:Scmh1 UTSW 4 120,362,712 (GRCm39) critical splice donor site probably null
R7097:Scmh1 UTSW 4 120,382,252 (GRCm39) missense probably benign
R7432:Scmh1 UTSW 4 120,386,353 (GRCm39) missense probably damaging 1.00
R8327:Scmh1 UTSW 4 120,379,699 (GRCm39) missense probably benign
R8680:Scmh1 UTSW 4 120,319,331 (GRCm39) missense probably benign
R8745:Scmh1 UTSW 4 120,362,559 (GRCm39) nonsense probably null
R9018:Scmh1 UTSW 4 120,362,514 (GRCm39) missense probably benign 0.01
R9141:Scmh1 UTSW 4 120,362,556 (GRCm39) missense probably benign 0.00
R9283:Scmh1 UTSW 4 120,319,337 (GRCm39) missense probably benign
R9426:Scmh1 UTSW 4 120,362,556 (GRCm39) missense probably benign 0.00
R9454:Scmh1 UTSW 4 120,372,276 (GRCm39) missense probably benign
R9487:Scmh1 UTSW 4 120,320,284 (GRCm39) nonsense probably null
R9617:Scmh1 UTSW 4 120,340,827 (GRCm39) missense probably damaging 1.00
R9775:Scmh1 UTSW 4 120,340,820 (GRCm39) missense probably benign
Z1176:Scmh1 UTSW 4 120,335,239 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16