Incidental Mutation 'IGL02134:Cadm4'
ID281238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cadm4
Ensembl Gene ENSMUSG00000054793
Gene Namecell adhesion molecule 4
SynonymsNecl-4, Tsll2, SynCAM 4, Igsf4c
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.776) question?
Stock #IGL02134
Quality Score
Status
Chromosome7
Chromosomal Location24482023-24504539 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24499561 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 87 (V87A)
Ref Sequence ENSEMBL: ENSMUSP00000066880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068023]
Predicted Effect probably benign
Transcript: ENSMUST00000068023
AA Change: V87A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000066880
Gene: ENSMUSG00000054793
AA Change: V87A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 29 121 3.18e-6 SMART
IG 130 221 7.89e-2 SMART
IGc2 236 298 1.54e-13 SMART
4.1m 344 362 3.37e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205820
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for one null allele do not display myelination abnormalities. Mice with ubiquitous conditional deletion of the gene show myelination abnormalities, decreased nerve conduction velocity, hindlimb rigidity, limb grasping, and impaired coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,669,690 N168S probably damaging Het
Angptl3 A T 4: 99,031,112 R36S probably damaging Het
Ap5z1 T C 5: 142,474,459 F514L probably benign Het
Arhgef39 C A 4: 43,497,578 probably null Het
Aste1 A G 9: 105,397,844 S11G probably damaging Het
Cd177 A G 7: 24,752,352 I413T probably benign Het
Col5a2 A G 1: 45,391,070 probably null Het
Dera C T 6: 137,830,271 A239V probably damaging Het
Ecm1 T C 3: 95,736,187 E283G probably damaging Het
Eml6 G T 11: 29,759,066 H24N probably benign Het
Etl4 A G 2: 20,806,429 K1425E possibly damaging Het
Fgd3 G A 13: 49,296,749 S8L possibly damaging Het
Gli1 T C 10: 127,336,500 E228G probably benign Het
Hivep3 A G 4: 120,133,574 probably benign Het
Iqcc A G 4: 129,619,025 S11P probably damaging Het
Itpkc G A 7: 27,227,875 Q205* probably null Het
Jmjd1c T A 10: 67,220,392 S530R possibly damaging Het
Kcnq1 A G 7: 143,183,716 H257R possibly damaging Het
Kcnt2 G A 1: 140,376,383 V164I probably benign Het
Lgr5 T C 10: 115,452,858 H603R possibly damaging Het
Lrp2 T C 2: 69,513,379 probably null Het
Lrrn2 A G 1: 132,937,817 M207V possibly damaging Het
Miip A G 4: 147,865,278 probably benign Het
Mrps35 T C 6: 147,048,310 probably benign Het
Nuf2 A T 1: 169,513,500 M184K probably benign Het
Olfr113 C T 17: 37,575,358 E22K probably benign Het
Olfr1234 A T 2: 89,362,828 N200K probably damaging Het
Olfr1494 C A 19: 13,749,801 R232S probably benign Het
Olfr452 A G 6: 42,790,464 T142A probably benign Het
Olfr951 A T 9: 39,394,534 I248F probably damaging Het
Os9 T C 10: 127,120,992 I42V possibly damaging Het
Rapgef4 A C 2: 72,180,061 Q177P probably damaging Het
Rhpn2 T C 7: 35,371,111 probably benign Het
Scn5a T C 9: 119,485,892 R1916G probably damaging Het
Serpine1 T A 5: 137,067,035 probably benign Het
Snd1 C T 6: 28,880,279 P684L possibly damaging Het
Tgds T C 14: 118,113,122 N340D probably benign Het
Trpc4 A T 3: 54,315,654 Y706F possibly damaging Het
Ttn T A 2: 76,753,822 D22314V probably damaging Het
Utrn G A 10: 12,643,419 T2263I probably damaging Het
Vmn1r11 A T 6: 57,138,037 T229S possibly damaging Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Zfp219 A G 14: 52,009,301 L78P probably damaging Het
Zfp629 T A 7: 127,611,870 T256S probably benign Het
Other mutations in Cadm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01094:Cadm4 APN 7 24502759 missense possibly damaging 0.56
IGL01369:Cadm4 APN 7 24499522 missense possibly damaging 0.50
IGL03037:Cadm4 APN 7 24500795 missense probably damaging 1.00
IGL03086:Cadm4 APN 7 24500815 missense probably damaging 0.96
R0024:Cadm4 UTSW 7 24502744 missense probably benign 0.28
R1444:Cadm4 UTSW 7 24503621 makesense probably null
R6177:Cadm4 UTSW 7 24502761 missense possibly damaging 0.95
R6389:Cadm4 UTSW 7 24499534 missense probably benign 0.33
R7143:Cadm4 UTSW 7 24499567 missense possibly damaging 0.85
R7822:Cadm4 UTSW 7 24503545 missense possibly damaging 0.62
R8134:Cadm4 UTSW 7 24503605 missense possibly damaging 0.85
X0026:Cadm4 UTSW 7 24499924 missense possibly damaging 0.53
Posted On2015-04-16