Incidental Mutation 'IGL03196:Cadm1'
ID412822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cadm1
Ensembl Gene ENSMUSG00000032076
Gene Namecell adhesion molecule 1
SynonymsSynCam, RA175A, Igsf4a, RA175B, RA175C, RA175N, Igsf4, 2900073G06Rik, 3100001I08Rik, SgIGSF, Tslc1, Necl2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03196
Quality Score
Status
Chromosome9
Chromosomal Location47530173-47857637 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47799377 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 193 (S193P)
Ref Sequence ENSEMBL: ENSMUSP00000124119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034581] [ENSMUST00000085909] [ENSMUST00000114547] [ENSMUST00000114548] [ENSMUST00000143026] [ENSMUST00000152459]
Predicted Effect probably benign
Transcript: ENSMUST00000034581
AA Change: S193P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: S193P

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
low complexity region 345 360 N/A INTRINSIC
4.1m 370 388 1.5e-3 SMART
low complexity region 389 396 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085909
AA Change: S193P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: S193P

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
low complexity region 336 368 N/A INTRINSIC
low complexity region 384 399 N/A INTRINSIC
4.1m 409 427 1.5e-3 SMART
low complexity region 428 435 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114547
AA Change: S193P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: S193P

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
low complexity region 336 362 N/A INTRINSIC
low complexity region 373 388 N/A INTRINSIC
4.1m 398 416 1.5e-3 SMART
low complexity region 417 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114548
AA Change: S193P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: S193P

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
low complexity region 356 371 N/A INTRINSIC
4.1m 381 399 1.5e-3 SMART
low complexity region 400 407 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124073
Predicted Effect probably benign
Transcript: ENSMUST00000143026
AA Change: S193P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: S193P

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
transmembrane domain 349 371 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151624
Predicted Effect possibly damaging
Transcript: ENSMUST00000152459
AA Change: S193P

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: S193P

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
low complexity region 336 368 N/A INTRINSIC
low complexity region 402 417 N/A INTRINSIC
4.1m 427 445 1.5e-3 SMART
low complexity region 446 453 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant male show infertility due to block in maturation of spermatogenesis. Mice homozygous for a gene trap allele exhibit decreased body size, impaired T cell development, and impaired T cell response to anti-CD3/CD28 antibody stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,161,063 V57A probably damaging Het
2410089E03Rik A T 15: 8,201,342 K1034N probably damaging Het
Adck1 T C 12: 88,431,115 V173A probably damaging Het
Adgrv1 C A 13: 81,446,478 R4139L probably benign Het
Aqp4 T G 18: 15,393,509 D305A probably benign Het
Ccdc88a T C 11: 29,482,340 S377P possibly damaging Het
Clic5 C A 17: 44,242,073 H71Q possibly damaging Het
Col20a1 G A 2: 181,007,878 probably null Het
Col5a1 A G 2: 27,975,598 D759G unknown Het
Cpt1b A G 15: 89,424,395 V110A probably benign Het
Cts8 C T 13: 61,253,458 G85S probably benign Het
Cul5 T A 9: 53,625,880 M551L probably damaging Het
Eno1b T A 18: 48,047,491 D245E probably damaging Het
Fgf1 A T 18: 38,841,975 Y140* probably null Het
Flt1 A G 5: 147,615,127 probably null Het
Fndc7 A G 3: 108,883,444 Y89H probably damaging Het
Gm3127 A T 14: 4,172,510 M254L probably benign Het
Gm5849 T C 3: 90,777,782 E32G probably damaging Het
Gys1 T C 7: 45,454,817 probably benign Het
Hdgfl2 T C 17: 56,093,607 V125A probably benign Het
Hypm A G X: 9,847,110 Q27R possibly damaging Het
Igkv6-32 C T 6: 70,074,058 V105I probably benign Het
Lmo3 T C 6: 138,365,995 T140A probably benign Het
Marf1 A G 16: 14,140,259 V793A possibly damaging Het
Mep1b A C 18: 21,095,064 I575L probably benign Het
Mtmr4 T A 11: 87,600,783 I155N possibly damaging Het
Muc2 T C 7: 141,747,630 F361L probably damaging Het
Ncoa7 T A 10: 30,647,514 probably benign Het
Nme6 C T 9: 109,841,493 R71W probably damaging Het
Olfr1015 G A 2: 85,786,021 G170D possibly damaging Het
Olfr1158 A T 2: 87,990,482 I124F possibly damaging Het
Olfr504 T C 7: 108,564,854 S314G probably benign Het
Osbpl9 C T 4: 109,072,864 V357I probably damaging Het
Ppp4r3a A G 12: 101,049,654 probably benign Het
Rnf216 T C 5: 143,081,011 R474G probably damaging Het
Rpp25l A G 4: 41,712,541 V78A possibly damaging Het
Sh3bp2 C A 5: 34,557,343 P245Q probably damaging Het
Slc33a1 A G 3: 63,963,730 F154S possibly damaging Het
Wasf2 T A 4: 133,194,421 S284T unknown Het
Wdtc1 T C 4: 133,295,337 E566G probably damaging Het
Zcchc14 C T 8: 121,609,138 probably benign Het
Other mutations in Cadm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Cadm1 APN 9 47850324 missense probably damaging 1.00
IGL01899:Cadm1 APN 9 47810091 missense probably damaging 0.97
IGL02154:Cadm1 APN 9 47813903 missense probably benign 0.00
R0053:Cadm1 UTSW 9 47799414 missense probably damaging 1.00
R0053:Cadm1 UTSW 9 47799414 missense probably damaging 1.00
R0058:Cadm1 UTSW 9 47850331 missense probably damaging 1.00
R0058:Cadm1 UTSW 9 47850331 missense probably damaging 1.00
R0671:Cadm1 UTSW 9 47813806 missense probably benign 0.30
R0717:Cadm1 UTSW 9 47810068 missense probably benign 0.14
R1622:Cadm1 UTSW 9 47813841 missense probably benign 0.35
R1817:Cadm1 UTSW 9 47829370 splice site probably benign
R1958:Cadm1 UTSW 9 47850335 missense probably damaging 1.00
R3124:Cadm1 UTSW 9 47799477 missense possibly damaging 0.94
R4214:Cadm1 UTSW 9 47797443 missense probably damaging 0.99
R4449:Cadm1 UTSW 9 47813988 intron probably benign
R4449:Cadm1 UTSW 9 47530437 missense possibly damaging 0.85
R4701:Cadm1 UTSW 9 47818822 splice site probably benign
R5932:Cadm1 UTSW 9 47799451 missense probably damaging 1.00
R6013:Cadm1 UTSW 9 47857274 unclassified probably benign
R6315:Cadm1 UTSW 9 47810119 missense probably damaging 0.98
R6481:Cadm1 UTSW 9 47788109 missense probably damaging 1.00
R7121:Cadm1 UTSW 9 47799410 missense probably damaging 1.00
R7582:Cadm1 UTSW 9 47797442 missense probably damaging 0.99
Posted On2016-08-02