Mutagenetix > Incidental Mutation

Incidental Mutation 'R0024:Cadm4'

15168

Institutional Source

Beutler Lab

Gene Symbol

Cadm4

Ensembl Gene

ENSMUSG00000054793

Gene Name

cell adhesion molecule 4

Synonyms

SynCAM 4, Tsll2, Igsf4c, Necl-4

MMRRC Submission

038319-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.705) question?

Stock #

R0024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24181448-24203958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24202169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 336 (L336P)

Ref Sequence

ENSEMBL: ENSMUSP00000066880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068023] [ENSMUST00000071361] [ENSMUST00000176880] [ENSMUST00000177205] [ENSMUST00000177228]

AlphaFold

Q8R464

Predicted Effect

probably benign
Transcript: ENSMUST00000068023
AA Change: L336P

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066880
Gene: ENSMUSG00000054793
AA Change: L336P

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

probably benign
Transcript: ENSMUST00000071361

SMART Domains

Protein: ENSMUSP00000071318
Gene: ENSMUSG00000064264

Domain	Start	End	E-Value	Type
low complexity region	15	45	N/A	INTRINSIC
low complexity region	55	70	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC
low complexity region	138	147	N/A	INTRINSIC
ZnF_C2H2	149	171	2.67e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176880

SMART Domains

Protein: ENSMUSP00000135601
Gene: ENSMUSG00000064264

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177205

SMART Domains

Protein: ENSMUSP00000135750
Gene: ENSMUSG00000064264

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC
low complexity region	151	160	N/A	INTRINSIC
ZnF_C2H2	162	184	2.67e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205820

Meta Mutation Damage Score

0.2425

Coding Region Coverage

1x: 79.2%
3x: 69.7%
10x: 44.0%
20x: 23.5%

Validation Efficiency

95% (75/79)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 84,454,913 (GRCm39)	T260A	probably damaging	Het
Ahctf1	G	A	1: 179,580,001 (GRCm39)	T2067M	probably damaging	Het
Akip1	T	C	7: 109,303,345 (GRCm39)	S63P	probably benign	Het
Ankrd34c	G	A	9: 89,611,580 (GRCm39)	P254S	possibly damaging	Het
Aqp8	T	C	7: 123,066,663 (GRCm39)	I256T	probably benign	Het
Arnt2	A	G	7: 83,933,334 (GRCm39)	V308A	probably benign	Het
Astn1	G	A	1: 158,511,785 (GRCm39)	S1209N	probably damaging	Het
Atf7ip	T	C	6: 136,576,818 (GRCm39)		probably benign	Het
Bbx	T	A	16: 50,045,281 (GRCm39)	M427L	probably benign	Het
Camk2d	A	G	3: 126,591,372 (GRCm39)	M281V	probably benign	Het
Dennd2b	T	C	7: 109,123,866 (GRCm39)	H1131R	probably damaging	Het
Dll3	A	G	7: 27,999,586 (GRCm39)		probably benign	Het
Dscam	G	A	16: 96,394,585 (GRCm39)	R1906*	probably null	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eif2ak3	A	G	6: 70,869,340 (GRCm39)	T676A	probably benign	Het
Entpd5	T	C	12: 84,420,507 (GRCm39)	M428T	probably benign	Het
Fry	T	G	5: 150,304,268 (GRCm39)	S553A	probably benign	Het
Gls2	G	A	10: 128,035,125 (GRCm39)	R86H	probably damaging	Het
Gm14340	T	A	2: 180,466,043 (GRCm39)		noncoding transcript	Het
Gm9457	A	C	8: 4,863,131 (GRCm39)		noncoding transcript	Het
Hfm1	T	C	5: 107,004,790 (GRCm39)	K1179E	probably benign	Het
Iqgap1	T	C	7: 80,401,687 (GRCm39)	T473A	probably benign	Het
Krt34	A	T	11: 99,931,863 (GRCm39)	C119S	probably benign	Het
Krt6a	A	G	15: 101,599,150 (GRCm39)		probably benign	Het
Lysmd4	A	G	7: 66,875,828 (GRCm39)	T164A	probably benign	Het
Mroh2b	T	A	15: 4,955,109 (GRCm39)	Y701N	probably damaging	Het
Pi4ka	T	C	16: 17,133,399 (GRCm39)		probably benign	Het
Plcb1	A	G	2: 135,204,345 (GRCm39)	S900G	probably benign	Het
Plxna2	T	A	1: 194,326,303 (GRCm39)	I79N	possibly damaging	Het
Prpf31	C	A	7: 3,639,658 (GRCm39)		probably null	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rsc1a1	T	C	4: 141,412,583 (GRCm39)	K110E	probably benign	Het
Sin3a	T	A	9: 57,025,537 (GRCm39)		probably benign	Het
Slc24a2	T	C	4: 86,946,477 (GRCm39)		probably benign	Het
Slc6a3	A	T	13: 73,688,956 (GRCm39)		probably benign	Het
Sugct	G	A	13: 17,032,454 (GRCm39)	H433Y	probably benign	Het
Sycp2l	A	G	13: 41,295,264 (GRCm39)	I310M	probably damaging	Het
Tpm3	C	A	3: 89,994,756 (GRCm39)		probably null	Het
Ttc27	T	C	17: 75,077,259 (GRCm39)	F385L	possibly damaging	Het
Utrn	A	G	10: 12,281,755 (GRCm39)	V3301A	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
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
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

2012-12-12