Incidental Mutation 'IGL02530:Scmh1'
ID 297292
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

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

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02530
Quality Score
Status
Chromosome 4
Chromosomal Location 120405281-120530186 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 120528146 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000087] [ENSMUST00000062990] [ENSMUST00000064991] [ENSMUST00000106298] [ENSMUST00000106301]
AlphaFold Q8K214
Predicted Effect probably benign
Transcript: ENSMUST00000000087
SMART Domains Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085

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: ENSMUST00000062990
SMART Domains Protein: ENSMUSP00000050896
Gene: ENSMUSG00000047518

DomainStartEndE-ValueType
low complexity region 24 36 N/A INTRINSIC
low complexity region 149 173 N/A INTRINSIC
Pfam:AlbA_2 224 359 2.1e-30 PFAM
coiled coil region 369 401 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064991
SMART Domains Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085

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
SMART Domains Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085

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
SMART Domains Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085

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 noncoding transcript
Transcript: ENSMUST00000133169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144862
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 66,909,376 F305L probably damaging Het
Ankrd12 T C 17: 65,984,403 H1345R probably benign Het
Bloc1s5 A T 13: 38,603,883 M175K probably damaging Het
C9 T A 15: 6,497,132 M549K probably benign Het
Cfap52 A G 11: 67,954,181 probably benign Het
Cntnap2 A T 6: 47,021,736 K907N possibly damaging Het
Cox8c T A 12: 102,899,493 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26b1 A T 6: 84,574,312 N307K possibly damaging Het
Cyp2s1 T C 7: 25,816,424 probably benign Het
Dpysl2 G A 14: 66,824,398 T253I probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Egflam T A 15: 7,222,812 I835F probably damaging Het
Eif5a A T 11: 69,919,163 H51Q possibly damaging Het
Fancd2 T A 6: 113,562,461 I637N probably damaging Het
Gpr173 T A X: 152,347,096 H127L probably damaging Het
Klc3 T C 7: 19,397,044 I203V probably benign Het
Lsg1 T C 16: 30,571,242 K352E probably benign Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Med12l G T 3: 59,077,089 D483Y probably damaging Het
Mlh1 A G 9: 111,229,875 Y694H probably benign Het
Mmrn1 A G 6: 60,958,176 R219G possibly damaging Het
Nsd1 T C 13: 55,302,833 probably benign Het
Olfr1080 C T 2: 86,553,880 M81I possibly damaging Het
Olfr1392 A T 11: 49,293,728 M136L possibly damaging Het
Pax3 A T 1: 78,121,787 S322T possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Plekhb2 T C 1: 34,876,941 V187A possibly damaging Het
Pot1a A T 6: 25,794,593 F31I probably damaging Het
Rpap1 A T 2: 119,783,239 probably benign Het
Scn2a A G 2: 65,730,178 T1251A probably damaging Het
Siglecf T C 7: 43,352,210 V148A probably benign Het
Slit3 A G 11: 35,708,142 *1524W probably null Het
Son C A 16: 91,658,471 P1369T possibly damaging Het
Spp2 T A 1: 88,411,146 L25* probably null Het
Sptbn4 T C 7: 27,391,551 Q1405R probably damaging Het
Traf3ip2 G T 10: 39,646,906 A463S possibly damaging Het
Trappc11 T C 8: 47,507,582 E27G probably damaging Het
Vmn2r12 C T 5: 109,085,992 V785I probably damaging Het
Zc3h8 A G 2: 128,943,926 probably benign Het
Zfp57 T A 17: 37,006,164 S45T 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
IGL02887:Scmh1 APN 4 120468389 missense probably damaging 1.00
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
R8327:Scmh1 UTSW 4 120522502 missense probably benign
R8680:Scmh1 UTSW 4 120462134 missense probably benign
R8745:Scmh1 UTSW 4 120505362 nonsense probably null
R9018:Scmh1 UTSW 4 120505317 missense probably benign 0.01
R9141:Scmh1 UTSW 4 120505359 missense probably benign 0.00
R9283:Scmh1 UTSW 4 120462140 missense probably benign
R9426:Scmh1 UTSW 4 120505359 missense probably benign 0.00
R9454:Scmh1 UTSW 4 120515079 missense probably benign
R9487:Scmh1 UTSW 4 120463087 nonsense probably null
R9617:Scmh1 UTSW 4 120483630 missense probably damaging 1.00
R9775:Scmh1 UTSW 4 120483623 missense probably benign
Z1176:Scmh1 UTSW 4 120478042 missense probably damaging 0.99
Posted On 2015-04-16