Incidental Mutation 'IGL02887:Scmh1'
ID363792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scmh1
Ensembl Gene ENSMUSG00000000085
Gene Namesex comb on midleg homolog 1
SynonymsScml3
Accession Numbers

Ncbi RefSeq: NM_013883.2, NM_001159630.1; MGI:1352762

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02887
Quality Score
Status
Chromosome4
Chromosomal Location120405281-120530186 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120468389 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 101 (F101Y)
Ref Sequence ENSEMBL: ENSMUSP00000101908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000087] [ENSMUST00000064991] [ENSMUST00000106298] [ENSMUST00000106301]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000087
AA Change: F101Y

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085
AA Change: F101Y

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 damaging
Transcript: ENSMUST00000064991
AA Change: F101Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085
AA Change: F101Y

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 damaging
Transcript: ENSMUST00000106298
AA Change: F101Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085
AA Change: F101Y

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 damaging
Transcript: ENSMUST00000106301
AA Change: F101Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085
AA Change: F101Y

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
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3706668
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,258,885 Y69H probably damaging Het
Afap1l2 A T 19: 56,920,563 S310R probably damaging Het
Aldh7a1 A G 18: 56,542,216 probably benign Het
Anxa8 T A 14: 34,096,524 probably null Het
Ap1ar T C 3: 127,808,543 E282G probably damaging Het
Arl6ip6 T G 2: 53,202,927 S155A probably benign Het
Armc9 T C 1: 86,164,835 F107S probably damaging Het
Ash1l C A 3: 88,984,181 D1122E probably benign Het
Atp2b4 T A 1: 133,728,774 I713F probably damaging Het
BC005624 A C 2: 30,973,305 probably benign Het
Calcrl T C 2: 84,339,242 D365G probably benign Het
Ccdc110 A G 8: 45,943,184 N704S probably benign Het
Ccr10 G T 11: 101,174,666 L13I probably benign Het
Cfap52 A G 11: 67,953,515 Y125H probably damaging Het
Cnr2 C A 4: 135,917,625 T338K possibly damaging Het
Cntn2 T A 1: 132,516,570 D935V probably damaging Het
Cog7 T C 7: 121,943,844 K448R possibly damaging Het
Csnk1g2 G A 10: 80,638,535 D197N probably damaging Het
Cyp2e1 T A 7: 140,763,911 S21T probably damaging Het
Dcaf11 T C 14: 55,564,135 F187L probably damaging Het
Dmd T A X: 83,878,504 F1460Y probably benign Het
Dnah11 G A 12: 117,911,040 A4030V probably damaging Het
Dnah7a A G 1: 53,522,360 V2046A possibly damaging Het
Dnajc6 T C 4: 101,639,300 I820T probably damaging Het
Dsel T C 1: 111,860,732 D691G possibly damaging Het
Fbp1 T A 13: 62,869,080 M203L probably benign Het
Fndc1 T C 17: 7,773,638 T409A unknown Het
Golgb1 T G 16: 36,925,849 L2930R probably damaging Het
Htr2a A G 14: 74,645,143 T190A probably benign Het
Klra4 C T 6: 130,044,070 C254Y probably damaging Het
Large1 A T 8: 73,132,039 V67E probably benign Het
Lins1 T C 7: 66,714,183 S609P probably damaging Het
Magi3 T C 3: 104,095,157 E156G probably damaging Het
Mdh1b A G 1: 63,715,364 probably benign Het
Mfsd6 T C 1: 52,708,878 D276G probably benign Het
Myh9 T A 15: 77,796,020 K185* probably null Het
Myof T C 19: 37,920,779 probably null Het
Naip2 T G 13: 100,161,512 Y672S possibly damaging Het
Nbeal1 A G 1: 60,287,444 probably benign Het
Nbeal2 T A 9: 110,628,276 H2273L probably damaging Het
Neb T C 2: 52,200,721 K1346E possibly damaging Het
Nfatc2 T C 2: 168,504,450 D908G probably damaging Het
Nlgn2 T C 11: 69,827,254 N375S probably benign Het
Nova1 G T 12: 46,720,722 Q139K unknown Het
Olfr328 A G 11: 58,552,161 L26P probably damaging Het
Olfr775 T A 10: 129,250,925 Y130* probably null Het
Olfr978 T A 9: 39,993,813 M1K probably null Het
Opa3 A T 7: 19,228,582 Q47L probably damaging Het
Pacs1 A T 19: 5,135,110 probably benign Het
Pappa2 T A 1: 158,782,259 H1544L probably damaging Het
Pax8 A G 2: 24,444,615 S48P probably damaging Het
Pdilt T C 7: 119,498,049 N70S possibly damaging Het
Poldip3 T C 15: 83,129,268 probably benign Het
Ppp6r1 T A 7: 4,642,212 I80F probably damaging Het
Pycr2 T A 1: 180,904,739 probably null Het
Rapgef2 C T 3: 79,068,880 probably benign Het
Rbm44 T A 1: 91,153,180 D363E probably damaging Het
Rnf213 A T 11: 119,427,510 I1046F probably damaging Het
Ryr2 A G 13: 11,591,269 S4476P probably damaging Het
Scara5 G A 14: 65,762,829 D483N unknown Het
Sgo2a T A 1: 58,016,352 V565E probably damaging Het
Simc1 T C 13: 54,525,258 M473T probably benign Het
Skint6 T A 4: 113,238,184 R93* probably null Het
Skint7 T C 4: 111,982,178 V223A possibly damaging Het
Slc25a2 T C 18: 37,637,886 I197V probably benign Het
Slit2 A G 5: 48,217,474 T361A probably benign Het
Sugp1 G A 8: 70,070,126 G492D probably damaging Het
Svep1 C T 4: 58,145,301 G388D probably damaging Het
Tbpl2 G T 2: 24,093,876 A183E probably damaging Het
Tcerg1l G T 7: 138,229,890 P453T probably damaging Het
Tdpoz2 T C 3: 93,651,739 T309A probably benign Het
Thbs4 T A 13: 92,790,798 Y61F probably benign Het
Tmem117 C A 15: 95,094,775 P439T probably damaging Het
Tmem151a A G 19: 5,082,965 V71A probably benign Het
Tmem268 G T 4: 63,568,454 probably benign Het
Tmem43 T A 6: 91,477,374 Y48N possibly damaging Het
Tmigd1 T C 11: 76,913,986 V217A probably benign Het
Tmprss11g A T 5: 86,497,329 probably benign Het
Tsn T C 1: 118,309,821 I38V probably benign Het
Ttc41 A T 10: 86,733,654 Y632F probably damaging Het
Vmn2r117 C T 17: 23,475,578 probably benign Het
Vmn2r12 A T 5: 109,090,485 I463N probably benign Het
Wdsub1 T A 2: 59,852,832 N466I probably damaging Het
Zdhhc21 A T 4: 82,844,190 I56N probably benign Het
Zfand4 A G 6: 116,273,656 T16A possibly damaging Het
Zmym4 T C 4: 126,948,475 E15G probably damaging Het
Other mutations in Scmh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Scmh1 APN 4 120529900 utr 3 prime probably benign
IGL01962:Scmh1 APN 4 120483584 splice site probably benign
IGL02013:Scmh1 APN 4 120483732 missense possibly damaging 0.77
IGL02081:Scmh1 APN 4 120515078 missense probably damaging 1.00
IGL02223:Scmh1 APN 4 120515219 missense probably benign 0.26
IGL02530:Scmh1 APN 4 120528146 splice site probably benign
P0024:Scmh1 UTSW 4 120478034 missense probably damaging 1.00
R0164:Scmh1 UTSW 4 120529865 unclassified probably benign
R0164:Scmh1 UTSW 4 120529865 unclassified probably benign
R0200:Scmh1 UTSW 4 120483831 missense probably damaging 0.99
R1598:Scmh1 UTSW 4 120515130 missense possibly damaging 0.83
R1624:Scmh1 UTSW 4 120529228 missense probably damaging 1.00
R2276:Scmh1 UTSW 4 120483672 missense probably damaging 1.00
R3734:Scmh1 UTSW 4 120478080 missense probably damaging 1.00
R4167:Scmh1 UTSW 4 120529276 intron probably benign
R4570:Scmh1 UTSW 4 120528298 missense probably damaging 1.00
R5458:Scmh1 UTSW 4 120505281 unclassified probably benign
R5564:Scmh1 UTSW 4 120468378 missense probably damaging 1.00
R5700:Scmh1 UTSW 4 120516946 missense probably benign 0.10
R5991:Scmh1 UTSW 4 120522620 missense probably benign
R5999:Scmh1 UTSW 4 120505515 critical splice donor site probably null
R7097:Scmh1 UTSW 4 120525055 missense probably benign
R7432:Scmh1 UTSW 4 120529156 missense probably damaging 1.00
Posted On2015-12-18