Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03086:Cadm4'

418116

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 #

IGL03086

Quality Score

Status

Chromosome

Chromosomal Location

24181448-24203958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24200240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 250 (N250Y)

Ref Sequence

ENSEMBL: ENSMUSP00000066880 (fasta)

Gene Model

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

AlphaFold

Q8R464

Predicted Effect

probably damaging
Transcript: ENSMUST00000068023
AA Change: N250Y

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066880
Gene: ENSMUSG00000054793
AA Change: N250Y

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	A	G	1: 72,682,437 (GRCm39)	I1158T	possibly damaging	Het
Ankrd11	A	G	8: 123,621,249 (GRCm39)	S868P	probably damaging	Het
Atad3a	C	T	4: 155,833,127 (GRCm39)		probably null	Het
Cd300c2	T	C	11: 114,891,649 (GRCm39)	E75G	possibly damaging	Het
Cdc23	A	C	18: 34,770,239 (GRCm39)		probably benign	Het
Cep97	A	G	16: 55,735,659 (GRCm39)	S380P	probably benign	Het
Ckap5	T	A	2: 91,400,621 (GRCm39)		probably benign	Het
Col6a4	A	T	9: 105,960,061 (GRCm39)		probably benign	Het
Dclk1	G	A	3: 55,154,788 (GRCm39)	V73M	probably damaging	Het
Dnah8	T	C	17: 30,961,754 (GRCm39)	L2297P	probably damaging	Het
Eif2a	A	G	3: 58,448,538 (GRCm39)	I124V	probably benign	Het
Fam227b	A	T	2: 125,960,951 (GRCm39)	I226K	probably benign	Het
Fcgr1	G	T	3: 96,191,814 (GRCm39)	Y331*	probably null	Het
Helq	T	C	5: 100,944,793 (GRCm39)	T106A	possibly damaging	Het
Ly9	A	T	1: 171,432,738 (GRCm39)	Y92N	probably benign	Het
Myom1	G	A	17: 71,415,666 (GRCm39)	C1256Y	probably damaging	Het
Ndc80	G	A	17: 71,827,920 (GRCm39)	T104I	probably benign	Het
Or1x2	T	A	11: 50,918,557 (GRCm39)	C243S	probably damaging	Het
Or2y1d	A	G	11: 49,321,632 (GRCm39)	T110A	probably benign	Het
Or51a8	T	C	7: 102,549,613 (GRCm39)	F13S	probably damaging	Het
Or5e1	A	T	7: 108,355,003 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,969,273 (GRCm39)	N679S	probably damaging	Het
Polq	G	A	16: 36,911,411 (GRCm39)	R2382K	probably benign	Het
Recql4	C	T	15: 76,590,468 (GRCm39)	R672Q	probably benign	Het
Selenbp2	A	G	3: 94,606,945 (GRCm39)	N197S	probably damaging	Het
Sirpb1a	C	A	3: 15,491,388 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,054,856 (GRCm39)	D832E	probably benign	Het
Slc13a1	G	A	6: 24,118,002 (GRCm39)	A245V	probably damaging	Het
Unc80	A	G	1: 66,548,633 (GRCm39)	D635G	probably damaging	Het
Utp18	T	C	11: 93,766,882 (GRCm39)	Q275R	probably damaging	Het
Wdr35	A	G	12: 9,058,692 (GRCm39)		probably null	Het
Zfyve26	A	G	12: 79,342,338 (GRCm39)	V36A	probably damaging	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
IGL01369:Cadm4	APN	7	24,198,947 (GRCm39)	missense	possibly damaging	0.50
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
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

2016-08-02