Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Cadm4'

632166

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

067562-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.705) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24181448-24203958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24203030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 384 (E384G)

Ref Sequence

ENSEMBL: ENSMUSP00000066880 (fasta)

Gene Model

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

AlphaFold

Q8R464

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068023
AA Change: E384G

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066880
Gene: ENSMUSG00000054793
AA Change: E384G

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 80,425,982 (GRCm39)	P265L	probably benign	Het
Adam20	A	G	8: 41,249,101 (GRCm39)	T404A	probably benign	Het
Anp32a	G	T	9: 62,284,863 (GRCm39)	R237L	unknown	Het
Ascc3	A	G	10: 50,643,554 (GRCm39)	D1835G	probably benign	Het
Atg9b	A	G	5: 24,590,220 (GRCm39)		probably null	Het
Bard1	A	T	1: 71,106,297 (GRCm39)	N443K	probably damaging	Het
Btnl1	A	G	17: 34,604,647 (GRCm39)	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,067,711 (GRCm39)	I487F		Het
Camsap3	A	G	8: 3,648,075 (GRCm39)	K128E	probably benign	Het
Casz1	C	T	4: 149,027,492 (GRCm39)	P1005S	probably damaging	Het
Cd38	C	A	5: 44,058,790 (GRCm39)	L135M	probably damaging	Het
Cdk20	A	G	13: 64,585,734 (GRCm39)	E244G	probably benign	Het
Cfap54	A	T	10: 92,714,378 (GRCm39)	V2667D	unknown	Het
Col11a1	A	G	3: 114,012,435 (GRCm39)	K1792E	unknown	Het
Cpne9	A	T	6: 113,272,003 (GRCm39)	D377V	probably benign	Het
Csmd1	A	T	8: 15,982,550 (GRCm39)	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,651,391 (GRCm39)	V222A	probably benign	Het
Frmpd2	T	C	14: 33,227,452 (GRCm39)	S277P	probably benign	Het
Herc2	C	T	7: 55,734,884 (GRCm39)	T158I	probably benign	Het
Hoxa4	G	T	6: 52,167,537 (GRCm39)	H215N	possibly damaging	Het
Hpd	G	T	5: 123,312,443 (GRCm39)	Q309K	probably benign	Het
Il20ra	A	G	10: 19,626,452 (GRCm39)	T159A	probably damaging	Het
Ints10	T	A	8: 69,255,638 (GRCm39)	Y209*	probably null	Het
Ints2	A	G	11: 86,103,486 (GRCm39)	I1190T	probably damaging	Het
Jhy	A	G	9: 40,872,188 (GRCm39)	V107A	probably null	Het
Kdm4d	C	T	9: 14,374,532 (GRCm39)	R442H	probably damaging	Het
Kifbp	T	C	10: 62,413,756 (GRCm39)	Y134C	probably benign	Het
Klb	A	T	5: 65,540,958 (GRCm39)	H1017L	probably benign	Het
Kndc1	T	A	7: 139,481,285 (GRCm39)		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,518,660 (GRCm39)		probably benign	Het
Lrrn3	T	C	12: 41,503,047 (GRCm39)	I423M	probably damaging	Het
Magi2	T	G	5: 20,596,365 (GRCm39)	F274L	probably damaging	Het
Magi2	T	A	5: 20,596,392 (GRCm39)	D283E	probably benign	Het
Map3k19	A	C	1: 127,751,492 (GRCm39)	S620A	probably damaging	Het
Meis2	C	T	2: 115,697,369 (GRCm39)	M388I	probably benign	Het
Ms4a3	G	C	19: 11,615,613 (GRCm39)	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,710,585 (GRCm39)	M548K	possibly damaging	Het
Ninl	C	T	2: 150,792,234 (GRCm39)	C763Y	probably benign	Het
Numa1	T	C	7: 101,650,834 (GRCm39)	F1522L	probably benign	Het
Or13a25	T	A	7: 140,247,680 (GRCm39)	I153N	possibly damaging	Het
Or2bd2	T	C	7: 6,441,922 (GRCm39)		probably benign	Het
Pcdhgc3	G	A	18: 37,939,916 (GRCm39)	V106I	probably benign	Het
Phf3	A	G	1: 30,863,552 (GRCm39)	V152A	unknown	Het
Pira1	A	G	7: 3,738,838 (GRCm39)	S590P	probably damaging	Het
Plcg2	A	T	8: 118,284,057 (GRCm39)	D118V	probably damaging	Het
Pnpla1	A	G	17: 29,097,443 (GRCm39)	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,672,888 (GRCm39)	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rrs1	C	T	1: 9,615,645 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,318,592 (GRCm39)	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157 (GRCm39)		probably null	Het
Sun3	G	T	11: 8,979,346 (GRCm39)	D118E	probably benign	Het
Svop	C	T	5: 114,180,992 (GRCm39)	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,045,474 (GRCm39)	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,937,064 (GRCm39)	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,198,381 (GRCm39)	D116E	probably benign	Het
Ube2z	A	G	11: 95,949,200 (GRCm39)	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,462,797 (GRCm39)		probably null	Het
Vps13a	A	G	19: 16,631,718 (GRCm39)	I2639T	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,003,166 (GRCm39)	V92E	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
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
X0026:Cadm4	UTSW	7	24,199,349 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CACTGAACTGGACTCTGGTTC -3'
(R):5'- AGTCTCTGGACCCTAGCCTTTG -3'

Sequencing Primer
(F):5'- GAACTGGACTCTGGTTCCCTTTC -3'
(R):5'- CTTTGGCCCTGGGAGAGATC -3'

Posted On

2020-06-30