Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02134:Cadm4'

281238

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 #

IGL02134

Quality Score

Status

Chromosome

Chromosomal Location

24181448-24203958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24198986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 87 (V87A)

Ref Sequence

ENSEMBL: ENSMUSP00000066880 (fasta)

Gene Model

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

AlphaFold

Q8R464

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	T	C	17: 42,980,581 (GRCm39)	N168S	probably damaging	Het
Angptl3	A	T	4: 98,919,349 (GRCm39)	R36S	probably damaging	Het
Ap5z1	T	C	5: 142,460,214 (GRCm39)	F514L	probably benign	Het
Arhgef39	C	A	4: 43,497,578 (GRCm39)		probably null	Het
Aste1	A	G	9: 105,275,043 (GRCm39)	S11G	probably damaging	Het
Cd177	A	G	7: 24,451,777 (GRCm39)	I413T	probably benign	Het
Col5a2	A	G	1: 45,430,230 (GRCm39)		probably null	Het
Dera	C	T	6: 137,807,269 (GRCm39)	A239V	probably damaging	Het
Ecm1	T	C	3: 95,643,499 (GRCm39)	E283G	probably damaging	Het
Eml6	G	T	11: 29,709,066 (GRCm39)	H24N	probably benign	Het
Etl4	A	G	2: 20,811,240 (GRCm39)	K1425E	possibly damaging	Het
Fgd3	G	A	13: 49,450,225 (GRCm39)	S8L	possibly damaging	Het
Gli1	T	C	10: 127,172,369 (GRCm39)	E228G	probably benign	Het
Hivep3	A	G	4: 119,990,771 (GRCm39)		probably benign	Het
Iqcc	A	G	4: 129,512,818 (GRCm39)	S11P	probably damaging	Het
Itpkc	G	A	7: 26,927,300 (GRCm39)	Q205*	probably null	Het
Jmjd1c	T	A	10: 67,056,171 (GRCm39)	S530R	possibly damaging	Het
Kcnq1	A	G	7: 142,737,453 (GRCm39)	H257R	possibly damaging	Het
Kcnt2	G	A	1: 140,304,121 (GRCm39)	V164I	probably benign	Het
Lgr5	T	C	10: 115,288,763 (GRCm39)	H603R	possibly damaging	Het
Lrp2	T	C	2: 69,343,723 (GRCm39)		probably null	Het
Lrrn2	A	G	1: 132,865,555 (GRCm39)	M207V	possibly damaging	Het
Miip	A	G	4: 147,949,735 (GRCm39)		probably benign	Het
Mrps35	T	C	6: 146,949,808 (GRCm39)		probably benign	Het
Nuf2	A	T	1: 169,341,069 (GRCm39)	M184K	probably benign	Het
Or10q1	C	A	19: 13,727,165 (GRCm39)	R232S	probably benign	Het
Or14j2	C	T	17: 37,886,249 (GRCm39)	E22K	probably benign	Het
Or2f2	A	G	6: 42,767,398 (GRCm39)	T142A	probably benign	Het
Or4a15	A	T	2: 89,193,172 (GRCm39)	N200K	probably damaging	Het
Or8g32	A	T	9: 39,305,830 (GRCm39)	I248F	probably damaging	Het
Os9	T	C	10: 126,956,861 (GRCm39)	I42V	possibly damaging	Het
Rapgef4	A	C	2: 72,010,405 (GRCm39)	Q177P	probably damaging	Het
Rhpn2	T	C	7: 35,070,536 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,314,958 (GRCm39)	R1916G	probably damaging	Het
Serpine1	T	A	5: 137,095,889 (GRCm39)		probably benign	Het
Snd1	C	T	6: 28,880,278 (GRCm39)	P684L	possibly damaging	Het
Tgds	T	C	14: 118,350,534 (GRCm39)	N340D	probably benign	Het
Trpc4	A	T	3: 54,223,075 (GRCm39)	Y706F	possibly damaging	Het
Ttn	T	A	2: 76,584,166 (GRCm39)	D22314V	probably damaging	Het
Utrn	G	A	10: 12,519,163 (GRCm39)	T2263I	probably damaging	Het
Vmn1r11	A	T	6: 57,115,022 (GRCm39)	T229S	possibly damaging	Het
Zfp142	T	G	1: 74,609,022 (GRCm39)	H1488P	probably damaging	Het
Zfp219	A	G	14: 52,246,758 (GRCm39)	L78P	probably damaging	Het
Zfp629	T	A	7: 127,211,042 (GRCm39)	T256S	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
IGL01369:Cadm4	APN	7	24,198,947 (GRCm39)	missense	possibly damaging	0.50
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

2015-04-16