Mutagenetix > Incidental Mutation

Incidental Mutation 'R0058:Cadm1'

34352

Institutional Source

Beutler Lab

Gene Symbol

Cadm1

Ensembl Gene

ENSMUSG00000032076

Gene Name

cell adhesion molecule 1

Synonyms

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

MMRRC Submission

038352-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47530173-47857637 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47850331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 427 (I427L)

Ref Sequence

ENSEMBL: ENSMUSP00000110194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034581] [ENSMUST00000085909] [ENSMUST00000114547] [ENSMUST00000114548] [ENSMUST00000143026] [ENSMUST00000152459]

AlphaFold

Q8R5M8

Predicted Effect

probably damaging
Transcript: ENSMUST00000034581
AA Change: I399L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: I399L

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	345	360	N/A	INTRINSIC
4.1m	370	388	1.5e-3	SMART
low complexity region	389	396	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000085909
AA Change: I438L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: I438L

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	368	N/A	INTRINSIC
low complexity region	384	399	N/A	INTRINSIC
4.1m	409	427	1.5e-3	SMART
low complexity region	428	435	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114547
AA Change: I427L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: I427L

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 damaging
Transcript: ENSMUST00000114548
AA Change: I410L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: I410L

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

probably benign
Transcript: ENSMUST00000143026

SMART Domains

Protein: ENSMUSP00000124555
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
transmembrane domain	349	371	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152459
AA Change: I456L

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: I456L

Domain	Start	End	E-Value	Type
signal peptide	1	47	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	368	N/A	INTRINSIC
low complexity region	402	417	N/A	INTRINSIC
4.1m	427	445	1.5e-3	SMART
low complexity region	446	453	N/A	INTRINSIC

Meta Mutation Damage Score

0.2023

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	G	5: 137,290,842	V270G	probably damaging	Het
Acss1	A	T	2: 150,628,539	W394R	probably damaging	Het
Adgrv1	A	G	13: 81,182,672	V6088A	possibly damaging	Het
Ankrd36	A	G	11: 5,630,691		probably benign	Het
Anxa1	A	T	19: 20,383,777	Y84N	probably damaging	Het
Arnt2	G	A	7: 84,347,530	R63C	probably damaging	Het
Avpr1b	A	G	1: 131,599,786	T16A	probably benign	Het
Bpifb1	G	A	2: 154,206,540	R165H	possibly damaging	Het
Cables1	A	G	18: 11,923,413	E316G	possibly damaging	Het
Ccdc97	T	C	7: 25,715,980	D86G	probably benign	Het
Cgnl1	C	A	9: 71,641,397	D1081Y	probably damaging	Het
Cgnl1	T	A	9: 71,724,840	R410W	probably damaging	Het
Cntnap4	G	A	8: 112,785,784	E593K	probably damaging	Het
Dazap1	T	C	10: 80,261,581		probably benign	Het
Dip2b	A	G	15: 100,215,240	E1512G	probably benign	Het
Dock1	G	A	7: 135,108,761	V1171M	possibly damaging	Het
Dock5	A	T	14: 67,781,036	F1230Y	probably benign	Het
Dym	G	A	18: 75,043,172	E15K	possibly damaging	Het
Ednra	C	A	8: 77,667,322		probably null	Het
Faf1	A	G	4: 109,736,624	Q133R	probably benign	Het
Fbxw28	A	G	9: 109,328,211	I323T	probably benign	Het
Fcer2a	T	C	8: 3,688,111		probably benign	Het
Fmo2	A	T	1: 162,886,324	S204R	probably benign	Het
Frmd4b	A	G	6: 97,423,499	V63A	probably damaging	Het
Fzd8	G	A	18: 9,213,985	A356T	possibly damaging	Het
Ghitm	A	G	14: 37,131,592	L97P	probably damaging	Het
Gins4	A	G	8: 23,229,510		probably benign	Het
Golga3	T	A	5: 110,202,777	F766Y	possibly damaging	Het
Hapln1	T	C	13: 89,607,878	I267T	probably benign	Het
Helz	A	T	11: 107,672,558		probably benign	Het
Herc2	T	C	7: 56,170,483	V2851A	possibly damaging	Het
Igkv8-18	G	A	6: 70,356,121		probably benign	Het
Igll1	A	T	16: 16,863,876	V5E	probably benign	Het
Irx3	T	C	8: 91,800,540	T179A	possibly damaging	Het
Kif16b	A	G	2: 142,857,305		probably null	Het
Limk1	A	T	5: 134,659,871	W507R	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mtif3	C	A	5: 146,956,921	V159F	probably benign	Het
Myh6	C	T	14: 54,963,404	R169Q	probably damaging	Het
Ncoa7	T	A	10: 30,647,541	D887V	probably damaging	Het
Obox7	C	T	7: 14,664,388	P76S	probably benign	Het
Olfr1335	A	G	4: 118,809,480	M128T	probably benign	Het
Olfr323	A	T	11: 58,625,668	I126N	probably damaging	Het
Pitpnm2	G	A	5: 124,124,030	A862V	probably damaging	Het
Pkd1	G	C	17: 24,564,703	A162P	probably benign	Het
Plce1	A	G	19: 38,525,184	D309G	possibly damaging	Het
Plk4	T	C	3: 40,805,872	V401A	probably benign	Het
Prdx3	T	C	19: 60,874,512		probably benign	Het
Prrc2c	C	T	1: 162,698,884	V253I	unknown	Het
Ranbp2	T	A	10: 58,480,531	S2358T	probably damaging	Het
Setd2	T	A	9: 110,594,426	V2183E	probably damaging	Het
Sgsm1	T	A	5: 113,285,087	S232C	probably damaging	Het
Skint6	A	T	4: 113,046,815		probably benign	Het
Slc15a2	A	G	16: 36,754,547	I531T	probably benign	Het
Slc36a1	C	T	11: 55,221,994		probably benign	Het
Sorbs2	T	A	8: 45,785,254		probably null	Het
Sorbs2	C	A	8: 45,796,263	D831E	probably damaging	Het
Sptan1	T	C	2: 29,993,696		probably null	Het
Stam	T	C	2: 14,138,141	C336R	probably damaging	Het
Stil	G	T	4: 115,041,298	A1042S	probably damaging	Het
Stxbp5l	T	A	16: 37,142,374	D773V	possibly damaging	Het
Sugct	A	T	13: 17,672,581	L39Q	probably damaging	Het
Tep1	A	G	14: 50,834,065	V2041A	possibly damaging	Het
Tex15	C	T	8: 33,581,502		probably benign	Het
Tlr9	T	G	9: 106,224,965	L485R	possibly damaging	Het
Tmem207	A	G	16: 26,524,829		probably benign	Het
Triml2	T	C	8: 43,185,269		probably benign	Het
Trip6	A	G	5: 137,310,845		probably benign	Het
Tspear	T	C	10: 77,869,631	F288L	probably benign	Het
Vmn1r179	C	T	7: 23,929,167	T261I	possibly damaging	Het
Zfp644	A	T	5: 106,637,003	S559R	possibly damaging	Het

Other mutations in Cadm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Cadm1	APN	9	47850324	missense	probably damaging	1.00
IGL01899:Cadm1	APN	9	47810091	missense	probably damaging	0.97
IGL02154:Cadm1	APN	9	47813903	missense	probably benign	0.00
IGL03196:Cadm1	APN	9	47799377	missense	possibly damaging	0.81
R0053:Cadm1	UTSW	9	47799414	missense	probably damaging	1.00
R0053:Cadm1	UTSW	9	47799414	missense	probably damaging	1.00
R0058:Cadm1	UTSW	9	47850331	missense	probably damaging	1.00
R0671:Cadm1	UTSW	9	47813806	missense	probably benign	0.30
R0717:Cadm1	UTSW	9	47810068	missense	probably benign	0.14
R1622:Cadm1	UTSW	9	47813841	missense	probably benign	0.35
R1817:Cadm1	UTSW	9	47829370	splice site	probably benign
R1958:Cadm1	UTSW	9	47850335	missense	probably damaging	1.00
R3124:Cadm1	UTSW	9	47799477	missense	possibly damaging	0.94
R4214:Cadm1	UTSW	9	47797443	missense	probably damaging	0.99
R4449:Cadm1	UTSW	9	47813988	intron	probably benign
R4449:Cadm1	UTSW	9	47530437	missense	possibly damaging	0.85
R4701:Cadm1	UTSW	9	47818822	splice site	probably benign
R5932:Cadm1	UTSW	9	47799451	missense	probably damaging	1.00
R6013:Cadm1	UTSW	9	47857274	unclassified	probably benign
R6315:Cadm1	UTSW	9	47810119	missense	probably damaging	0.98
R6481:Cadm1	UTSW	9	47788109	missense	probably damaging	1.00
R7121:Cadm1	UTSW	9	47799410	missense	probably damaging	1.00
R7582:Cadm1	UTSW	9	47797442	missense	probably damaging	0.99
R8710:Cadm1	UTSW	9	47848168	missense	probably damaging	0.99
R8943:Cadm1	UTSW	9	47789838	missense	probably damaging	0.99
R9258:Cadm1	UTSW	9	47799432	missense	probably benign	0.01
R9300:Cadm1	UTSW	9	47797523	nonsense	probably null
R9675:Cadm1	UTSW	9	47530454	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGAATTACATCGCAGCGGCTCAG -3'
(R):5'- CCACACGAGCTTCTCGAAAGTTCC -3'

Sequencing Primer
(F):5'- AGTGGTTACCTTTGGAGCCC -3'
(R):5'- GAGCTTCTCGAAAGTTCCAGTATC -3'

Posted On

2013-05-09