Mutagenetix > Incidental Mutation

Incidental Mutation 'R6013:Cadm1'

479856

Institutional Source

Beutler Lab

Gene Symbol

Cadm1

Ensembl Gene

ENSMUSG00000032076

Gene Name

cell adhesion molecule 1

Synonyms

RA175N, RA175B, 2900073G06Rik, 3100001I08Rik, Tslc1, Igsf4, RA175A, SgIGSF, SynCam, Necl2, RA175C, Igsf4a

MMRRC Submission

044189-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6013 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47441471-47769413 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 47768572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114547] [ENSMUST00000114548] [ENSMUST00000143026]

AlphaFold

Q8R5M8

Predicted Effect

probably benign
Transcript: ENSMUST00000114547

SMART Domains

Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	336	362	N/A	INTRINSIC
low complexity region	373	388	N/A	INTRINSIC
4.1m	398	416	1.5e-3	SMART
low complexity region	417	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114548

SMART Domains

Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	356	371	N/A	INTRINSIC
4.1m	381	399	1.5e-3	SMART
low complexity region	400	407	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000143026
AA Change: T384I

SMART Domains

Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: T384I

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
transmembrane domain	349	371	N/A	INTRINSIC

Meta Mutation Damage Score

0.0771

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

98% (54/55)

MGI Phenotype

PHENOTYPE: Homozygous mutant male show infertility due to block in maturation of spermatogenesis. Mice homozygous for a gene trap allele exhibit decreased body size, impaired T cell development, and impaired T cell response to anti-CD3/CD28 antibody stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	C	T	3: 6,682,310 (GRCm39)		probably null	Het
Aanat	A	T	11: 116,486,950 (GRCm39)		probably null	Het
Abca17	A	T	17: 24,506,820 (GRCm39)	V1178E	possibly damaging	Het
Abcf3	T	A	16: 20,369,311 (GRCm39)		probably null	Het
Alk	A	G	17: 72,207,732 (GRCm39)	M1001T	probably benign	Het
Arhgap23	C	A	11: 97,391,818 (GRCm39)	S1445Y	probably damaging	Het
Atp10a	T	C	7: 58,447,538 (GRCm39)	I760T	probably benign	Het
Car10	A	T	11: 93,076,105 (GRCm39)		probably benign	Het
Casq2	G	T	3: 102,052,945 (GRCm39)		probably null	Het
Cemip2	G	A	19: 21,809,403 (GRCm39)	V928I	possibly damaging	Het
Clec4f	T	C	6: 83,632,070 (GRCm39)	I55V	probably benign	Het
Cngb1	T	C	8: 96,010,949 (GRCm39)		probably benign	Het
Csn1s2b	A	G	5: 87,972,098 (GRCm39)		probably null	Het
Cyp2c39	A	C	19: 39,501,969 (GRCm39)	R119S	probably benign	Het
Cyp4f16	C	T	17: 32,765,652 (GRCm39)	A345V	probably null	Het
Ddx43	T	C	9: 78,321,567 (GRCm39)	L412S	probably damaging	Het
Dnajb12	G	A	10: 59,730,163 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,347,691 (GRCm39)	S56P	probably benign	Het
Fam83h	A	G	15: 75,875,849 (GRCm39)	F496S	probably damaging	Het
Gcnt4	T	C	13: 97,083,786 (GRCm39)	S361P	possibly damaging	Het
H2-T23	G	T	17: 36,341,474 (GRCm39)	H332Q	probably benign	Het
Hrob	T	C	11: 102,145,859 (GRCm39)	V45A	probably benign	Het
Ift57	G	T	16: 49,519,667 (GRCm39)		probably null	Het
Il1rl2	A	G	1: 40,391,017 (GRCm39)	H320R	possibly damaging	Het
Kansl1	A	G	11: 104,241,465 (GRCm39)	V618A	probably benign	Het
Kctd3	T	C	1: 188,728,665 (GRCm39)	E157G	probably benign	Het
Magohb	T	A	6: 131,270,037 (GRCm39)	D31V	possibly damaging	Het
Mdn1	C	A	4: 32,715,713 (GRCm39)	F1993L	probably damaging	Het
Med29	C	A	7: 28,086,418 (GRCm39)	C130F	probably benign	Het
Mtmr7	G	A	8: 41,034,570 (GRCm39)	R251C	probably damaging	Het
Ncor1	T	C	11: 62,211,903 (GRCm39)	I49V	probably benign	Het
Nfkb1	G	T	3: 135,332,445 (GRCm39)	T109K	possibly damaging	Het
Pkd1l1	A	G	11: 8,819,452 (GRCm39)		probably null	Het
Pkp1	T	A	1: 135,811,648 (GRCm39)	T408S	probably damaging	Het
Plec	A	T	15: 76,073,510 (GRCm39)	D501E	possibly damaging	Het
Prcp	A	C	7: 92,576,976 (GRCm39)	Y335S	possibly damaging	Het
Reg2	T	A	6: 78,384,952 (GRCm39)	Y165N	possibly damaging	Het
Rnf7	T	C	9: 96,353,787 (GRCm39)	*114W	probably null	Het
Scg3	T	C	9: 75,584,090 (GRCm39)	D137G	probably damaging	Het
Serpinb7	T	C	1: 107,377,919 (GRCm39)	V204A	probably benign	Het
Sez6	C	T	11: 77,864,623 (GRCm39)	H528Y	probably damaging	Het
Sf3b1	A	T	1: 55,039,457 (GRCm39)	S723T	probably damaging	Het
Shtn1	T	C	19: 58,963,533 (GRCm39)	D594G	probably damaging	Het
Sptbn4	A	G	7: 27,063,904 (GRCm39)	L2174P	probably damaging	Het
Stk25	A	G	1: 93,553,181 (GRCm39)		probably null	Het
Tep1	A	T	14: 51,098,505 (GRCm39)	F429I	probably damaging	Het
Thada	T	A	17: 84,580,228 (GRCm39)	I1409F	probably benign	Het
Usp25	G	A	16: 76,873,909 (GRCm39)	G495E	probably benign	Het
Washc2	A	G	6: 116,231,114 (GRCm39)	S844G	probably damaging	Het
Xirp2	A	T	2: 67,341,287 (GRCm39)	H1176L	possibly damaging	Het
Ypel1	T	C	16: 16,918,129 (GRCm39)	N96D	probably damaging	Het
Zfand6	C	A	7: 84,281,900 (GRCm39)	V110L	probably benign	Het
Zfp30	A	G	7: 29,488,846 (GRCm39)	R8G	possibly damaging	Het

Other mutations in Cadm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Cadm1	APN	9	47,761,622 (GRCm39)	missense	probably damaging	1.00
IGL01899:Cadm1	APN	9	47,721,389 (GRCm39)	missense	probably damaging	0.97
IGL02154:Cadm1	APN	9	47,725,201 (GRCm39)	missense	probably benign	0.00
IGL03196:Cadm1	APN	9	47,710,675 (GRCm39)	missense	possibly damaging	0.81
R0053:Cadm1	UTSW	9	47,710,712 (GRCm39)	missense	probably damaging	1.00
R0053:Cadm1	UTSW	9	47,710,712 (GRCm39)	missense	probably damaging	1.00
R0058:Cadm1	UTSW	9	47,761,629 (GRCm39)	missense	probably damaging	1.00
R0058:Cadm1	UTSW	9	47,761,629 (GRCm39)	missense	probably damaging	1.00
R0671:Cadm1	UTSW	9	47,725,104 (GRCm39)	missense	probably benign	0.30
R0717:Cadm1	UTSW	9	47,721,366 (GRCm39)	missense	probably benign	0.14
R1622:Cadm1	UTSW	9	47,725,139 (GRCm39)	missense	probably benign	0.35
R1817:Cadm1	UTSW	9	47,740,668 (GRCm39)	splice site	probably benign
R1958:Cadm1	UTSW	9	47,761,633 (GRCm39)	missense	probably damaging	1.00
R3124:Cadm1	UTSW	9	47,710,775 (GRCm39)	missense	possibly damaging	0.94
R4214:Cadm1	UTSW	9	47,708,741 (GRCm39)	missense	probably damaging	0.99
R4449:Cadm1	UTSW	9	47,441,735 (GRCm39)	missense	possibly damaging	0.85
R4449:Cadm1	UTSW	9	47,725,286 (GRCm39)	intron	probably benign
R4701:Cadm1	UTSW	9	47,730,120 (GRCm39)	splice site	probably benign
R5932:Cadm1	UTSW	9	47,710,749 (GRCm39)	missense	probably damaging	1.00
R6315:Cadm1	UTSW	9	47,721,417 (GRCm39)	missense	probably damaging	0.98
R6481:Cadm1	UTSW	9	47,699,407 (GRCm39)	missense	probably damaging	1.00
R7121:Cadm1	UTSW	9	47,710,708 (GRCm39)	missense	probably damaging	1.00
R7582:Cadm1	UTSW	9	47,708,740 (GRCm39)	missense	probably damaging	0.99
R8710:Cadm1	UTSW	9	47,759,466 (GRCm39)	missense	probably damaging	0.99
R8943:Cadm1	UTSW	9	47,701,136 (GRCm39)	missense	probably damaging	0.99
R9258:Cadm1	UTSW	9	47,710,730 (GRCm39)	missense	probably benign	0.01
R9300:Cadm1	UTSW	9	47,708,821 (GRCm39)	nonsense	probably null
R9675:Cadm1	UTSW	9	47,441,752 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCCAATCCACAAGAGCTGTCTG -3'
(R):5'- ACTGTCTTAAGTGTCTCCCGG -3'

Sequencing Primer
(F):5'- ACAAGAGCTGTCTGCCCAG -3'
(R):5'- GCTGTGTTAAGGATCAAGCCATC -3'

Posted On

2017-06-26