Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01369:Cadm4'

76064

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cadm4

Ensembl Gene

ENSMUSG00000054793

Gene Name

cell adhesion molecule 4

Synonyms

SynCAM 4, Tsll2, Igsf4c, Necl-4

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

IGL01369

Quality Score

Status

Chromosome

Chromosomal Location

24181448-24203958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24198947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 74 (D74V)

Ref Sequence

ENSEMBL: ENSMUSP00000066880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068023]

AlphaFold

Q8R464

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068023
AA Change: D74V

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066880
Gene: ENSMUSG00000054793
AA Change: D74V

Domain	Start	End	E-Value	Type
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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	C	4: 144,401,215 (GRCm39)	T90A	possibly damaging	Het
Abi2	A	G	1: 60,476,215 (GRCm39)	T96A	probably damaging	Het
Adam34	T	A	8: 44,104,094 (GRCm39)	K517M	probably benign	Het
Atm	A	T	9: 53,426,617 (GRCm39)	I547N	probably benign	Het
Caprin1	G	A	2: 103,599,210 (GRCm39)	P46S	probably damaging	Het
Cbl	A	T	9: 44,112,358 (GRCm39)	Y112*	probably null	Het
Ccdc180	T	C	4: 45,900,256 (GRCm39)	V246A	probably benign	Het
Chd1	A	T	17: 15,975,259 (GRCm39)	E1103V	probably damaging	Het
Clock	G	A	5: 76,384,933 (GRCm39)	P428L	probably benign	Het
Cntn2	T	A	1: 132,443,843 (GRCm39)	I979F	probably benign	Het
Col2a1	A	G	15: 97,875,707 (GRCm39)	S1193P	unknown	Het
Fga	A	T	3: 82,937,507 (GRCm39)	Y128F	probably benign	Het
Glyr1	A	T	16: 4,838,152 (GRCm39)	D365E	probably benign	Het
Gmppb	G	A	9: 107,928,446 (GRCm39)		probably null	Het
Gmps	A	T	3: 63,909,013 (GRCm39)	H505L	probably benign	Het
Hexim2	A	G	11: 103,029,464 (GRCm39)	N172S	probably benign	Het
Hmgcr	T	C	13: 96,803,030 (GRCm39)	E65G	probably null	Het
Hsd17b4	T	C	18: 50,305,100 (GRCm39)	S446P	possibly damaging	Het
Kirrel3	C	T	9: 34,927,737 (GRCm39)	T382I	probably benign	Het
Klra7	A	T	6: 130,203,498 (GRCm39)	Y169*	probably null	Het
Lmbrd1	T	C	1: 24,745,055 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,416,897 (GRCm39)	E211G	possibly damaging	Het
Maf1	T	A	15: 76,236,892 (GRCm39)	F44I	probably damaging	Het
Mmd2	A	G	5: 142,560,984 (GRCm39)	S84P	probably damaging	Het
Morc2b	T	C	17: 33,357,139 (GRCm39)	E211G	probably benign	Het
Mov10l1	T	C	15: 88,909,040 (GRCm39)		probably benign	Het
Mycbp2	C	A	14: 103,392,946 (GRCm39)	C3205F	possibly damaging	Het
Myg1	G	A	15: 102,242,773 (GRCm39)	V155M	probably benign	Het
Ncam2	A	G	16: 81,258,459 (GRCm39)	N247S	probably benign	Het
Nek11	A	G	9: 105,177,259 (GRCm39)		probably null	Het
Nt5dc3	T	A	10: 86,656,139 (GRCm39)		probably benign	Het
Nudcd3	A	G	11: 6,100,551 (GRCm39)	Y134H	probably damaging	Het
Ogfod1	T	C	8: 94,789,719 (GRCm39)		probably null	Het
Or5b99	A	T	19: 12,977,125 (GRCm39)	L258F	possibly damaging	Het
Orm2	T	C	4: 63,281,215 (GRCm39)	V51A	probably benign	Het
P2ry14	T	C	3: 59,022,756 (GRCm39)	I244V	probably damaging	Het
Poll	A	G	19: 45,542,115 (GRCm39)	V397A	probably damaging	Het
Ppdpf	C	A	2: 180,829,687 (GRCm39)		probably benign	Het
Ptch1	T	C	13: 63,659,495 (GRCm39)	E1249G	probably benign	Het
Rdh16f1	C	A	10: 127,595,844 (GRCm39)	T13K	probably benign	Het
Rrp1	G	A	10: 78,240,905 (GRCm39)		probably benign	Het
Sec14l2	A	G	11: 4,053,432 (GRCm39)	M346T	probably benign	Het
Sh2d2a	A	T	3: 87,759,136 (GRCm39)	Q246L	probably benign	Het
Slc44a1	G	A	4: 53,491,448 (GRCm39)	D62N	probably damaging	Het
Snx22	A	G	9: 65,976,060 (GRCm39)	Y58H	probably damaging	Het
Spata31f1a	T	C	4: 42,852,548 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,599,779 (GRCm39)	D19104V	probably damaging	Het
Ugt2a3	T	C	5: 87,474,979 (GRCm39)	S422G	probably damaging	Het
Zfyve19	G	T	2: 119,041,094 (GRCm39)		probably benign	Het

Other mutations in Cadm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01094:Cadm4	APN	7	24,202,184 (GRCm39)	missense	possibly damaging	0.56
IGL02134:Cadm4	APN	7	24,198,986 (GRCm39)	missense	probably benign	0.00
IGL03037:Cadm4	APN	7	24,200,220 (GRCm39)	missense	probably damaging	1.00
IGL03086:Cadm4	APN	7	24,200,240 (GRCm39)	missense	probably damaging	0.96
R0024:Cadm4	UTSW	7	24,202,169 (GRCm39)	missense	probably benign	0.28
R1444:Cadm4	UTSW	7	24,203,046 (GRCm39)	makesense	probably null
R6177:Cadm4	UTSW	7	24,202,186 (GRCm39)	missense	possibly damaging	0.95
R6389:Cadm4	UTSW	7	24,198,959 (GRCm39)	missense	probably benign	0.33
R7143:Cadm4	UTSW	7	24,198,992 (GRCm39)	missense	possibly damaging	0.85
R7822:Cadm4	UTSW	7	24,202,970 (GRCm39)	missense	possibly damaging	0.62
R8134:Cadm4	UTSW	7	24,203,030 (GRCm39)	missense	possibly damaging	0.85
X0026:Cadm4	UTSW	7	24,199,349 (GRCm39)	missense	possibly damaging	0.53

Posted On

2013-10-07