Incidental Mutation 'IGL02154:Cadm1'
ID 282173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cadm1
Ensembl Gene ENSMUSG00000032076
Gene Name cell adhesion molecule 1
Synonyms RA175N, RA175B, 2900073G06Rik, 3100001I08Rik, Tslc1, Igsf4, RA175A, SgIGSF, SynCam, Necl2, RA175C, Igsf4a
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02154
Quality Score
Status
Chromosome 9
Chromosomal Location 47441471-47769413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47725201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 321 (I321L)
Ref Sequence ENSEMBL: ENSMUSP00000124119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034581] [ENSMUST00000085909] [ENSMUST00000114547] [ENSMUST00000114548] [ENSMUST00000143026] [ENSMUST00000152459]
AlphaFold Q8R5M8
Predicted Effect probably benign
Transcript: ENSMUST00000034581
AA Change: I321L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: I321L

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: I321L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: I321L

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: I321L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: I321L

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: I321L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: I321L

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: I321L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: I321L

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 probably benign
Transcript: ENSMUST00000152459
AA Change: I321L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: I321L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151624
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armh4 G A 14: 50,010,399 (GRCm39) T436I possibly damaging Het
AW551984 G A 9: 39,500,398 (GRCm39) R787C possibly damaging Het
Cfap57 A G 4: 118,470,214 (GRCm39) L222P probably damaging Het
Cox20 A G 1: 178,150,119 (GRCm39) I98V probably benign Het
Dmrta1 A G 4: 89,580,150 (GRCm39) N370S probably benign Het
Dnah17 A G 11: 118,015,087 (GRCm39) F386L probably benign Het
Fam135b T C 15: 71,320,559 (GRCm39) I1323V probably benign Het
Fndc3b A G 3: 27,592,266 (GRCm39) S211P probably damaging Het
Galnt10 T G 11: 57,675,531 (GRCm39) L597V probably damaging Het
Gtf2e2 T C 8: 34,245,989 (GRCm39) probably null Het
Inpp4b T A 8: 82,696,130 (GRCm39) probably benign Het
Irag2 T G 6: 145,083,967 (GRCm39) M44R possibly damaging Het
Lacc1 A G 14: 77,270,727 (GRCm39) V269A probably benign Het
Mdn1 A G 4: 32,740,395 (GRCm39) D3750G probably benign Het
Mme A T 3: 63,250,976 (GRCm39) Q339L probably benign Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Myrf A T 19: 10,193,482 (GRCm39) I558N probably damaging Het
Or52e8 C T 7: 104,625,188 (GRCm39) M1I probably null Het
Phb1 A G 11: 95,565,997 (GRCm39) I94V possibly damaging Het
Prg4 T A 1: 150,330,613 (GRCm39) probably benign Het
Sirpb1a T C 3: 15,475,504 (GRCm39) T344A probably damaging Het
Skap2 T C 6: 51,989,308 (GRCm39) probably benign Het
Slc29a1 A G 17: 45,897,089 (GRCm39) I399T probably damaging Het
Sorl1 C T 9: 41,915,330 (GRCm39) V1300I probably benign Het
Tas2r117 T C 6: 132,780,678 (GRCm39) V272A probably benign Het
Tctn2 C A 5: 124,746,624 (GRCm39) noncoding transcript Het
Tmem51 T C 4: 141,759,089 (GRCm39) N220D probably damaging Het
Trak2 T C 1: 58,947,888 (GRCm39) D584G probably damaging Het
Vmn1r78 A G 7: 11,886,472 (GRCm39) I28V probably benign Het
Vmn2r95 A C 17: 18,672,248 (GRCm39) I662L probably benign Het
Vwa8 C A 14: 79,086,733 (GRCm39) R4S possibly damaging Het
Other mutations in Cadm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Cadm1 APN 9 47,761,622 (GRCm39) missense probably damaging 1.00
IGL01899:Cadm1 APN 9 47,721,389 (GRCm39) missense probably damaging 0.97
IGL03196:Cadm1 APN 9 47,710,675 (GRCm39) missense possibly damaging 0.81
R0053:Cadm1 UTSW 9 47,710,712 (GRCm39) missense probably damaging 1.00
R0053:Cadm1 UTSW 9 47,710,712 (GRCm39) missense probably damaging 1.00
R0058:Cadm1 UTSW 9 47,761,629 (GRCm39) missense probably damaging 1.00
R0058:Cadm1 UTSW 9 47,761,629 (GRCm39) missense probably damaging 1.00
R0671:Cadm1 UTSW 9 47,725,104 (GRCm39) missense probably benign 0.30
R0717:Cadm1 UTSW 9 47,721,366 (GRCm39) missense probably benign 0.14
R1622:Cadm1 UTSW 9 47,725,139 (GRCm39) missense probably benign 0.35
R1817:Cadm1 UTSW 9 47,740,668 (GRCm39) splice site probably benign
R1958:Cadm1 UTSW 9 47,761,633 (GRCm39) missense probably damaging 1.00
R3124:Cadm1 UTSW 9 47,710,775 (GRCm39) missense possibly damaging 0.94
R4214:Cadm1 UTSW 9 47,708,741 (GRCm39) missense probably damaging 0.99
R4449:Cadm1 UTSW 9 47,441,735 (GRCm39) missense possibly damaging 0.85
R4449:Cadm1 UTSW 9 47,725,286 (GRCm39) intron probably benign
R4701:Cadm1 UTSW 9 47,730,120 (GRCm39) splice site probably benign
R5932:Cadm1 UTSW 9 47,710,749 (GRCm39) missense probably damaging 1.00
R6013:Cadm1 UTSW 9 47,768,572 (GRCm39) unclassified probably benign
R6315:Cadm1 UTSW 9 47,721,417 (GRCm39) missense probably damaging 0.98
R6481:Cadm1 UTSW 9 47,699,407 (GRCm39) missense probably damaging 1.00
R7121:Cadm1 UTSW 9 47,710,708 (GRCm39) missense probably damaging 1.00
R7582:Cadm1 UTSW 9 47,708,740 (GRCm39) missense probably damaging 0.99
R8710:Cadm1 UTSW 9 47,759,466 (GRCm39) missense probably damaging 0.99
R8943:Cadm1 UTSW 9 47,701,136 (GRCm39) missense probably damaging 0.99
R9258:Cadm1 UTSW 9 47,710,730 (GRCm39) missense probably benign 0.01
R9300:Cadm1 UTSW 9 47,708,821 (GRCm39) nonsense probably null
R9675:Cadm1 UTSW 9 47,441,752 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16