Mutagenetix > Incidental Mutation

Incidental Mutation 'R0537:Tcam1'

49511

Institutional Source

Beutler Lab

Gene Symbol

Tcam1

Ensembl Gene

ENSMUSG00000020712

Gene Name

testicular cell adhesion molecule 1

Synonyms

MMRRC Submission

038729-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0537 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

106276672-106288745 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106284078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 120 (E120K)

Ref Sequence

ENSEMBL: ENSMUSP00000044757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044462] [ENSMUST00000142472]

AlphaFold

Q99NB3

Predicted Effect

probably benign
Transcript: ENSMUST00000044462
AA Change: E120K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044757
Gene: ENSMUSG00000020712
AA Change: E120K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ICAM_N	22	112	5.4e-30	PFAM
IG_like	117	214	1.66e2	SMART
IG_like	316	397	5.04e1	SMART
IG	408	478	2.79e0	SMART
transmembrane domain	488	510	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142472
AA Change: E120K

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115544
Gene: ENSMUSG00000020712
AA Change: E120K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ICAM_N	22	112	3.2e-30	PFAM
Pfam:Ig_2	109	214	1.7e-2	PFAM
Pfam:Ig_2	311	396	5.1e-3	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal male fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	T	14: 36,096,700	K218N	probably benign	Het
Acot11	T	C	4: 106,762,455	E156G	probably benign	Het
Arhgef28	A	T	13: 97,957,716	N973K	probably damaging	Het
B4galt3	T	C	1: 171,274,251		probably benign	Het
Bmpr1a	T	C	14: 34,443,812		probably benign	Het
Camkmt	A	T	17: 85,394,659	I184F	probably benign	Het
Ccdc33	T	C	9: 58,117,454	Y163C	probably damaging	Het
Ccdc9	A	G	7: 16,280,776		probably benign	Het
Dars2	A	T	1: 161,060,748	C201S	possibly damaging	Het
Dnajc1	A	T	2: 18,307,956	S194R	possibly damaging	Het
Dock8	A	G	19: 25,171,577	D1473G	probably benign	Het
Dpm2	T	A	2: 32,572,949		probably null	Het
Dsg4	T	C	18: 20,458,571	S456P	probably damaging	Het
Gm10260	A	T	13: 97,760,563	F9Y	probably benign	Het
Gys1	T	C	7: 45,440,001	S195P	probably damaging	Het
Heatr6	G	T	11: 83,779,464	E948*	probably null	Het
Itgal	G	A	7: 127,311,273	R518Q	possibly damaging	Het
Klhdc8b	G	C	9: 108,449,223	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Lrrtm4	A	T	6: 80,022,120	T172S	probably benign	Het
Lypd1	A	G	1: 125,912,867		probably benign	Het
Mei1	T	C	15: 82,091,361	F121S	possibly damaging	Het
Mtor	C	T	4: 148,538,360	R1966W	probably damaging	Het
Myh7	A	G	14: 54,990,799	F247L	possibly damaging	Het
Nebl	G	T	2: 17,404,215	D392E	possibly damaging	Het
Notch2	C	A	3: 98,116,741	N840K	possibly damaging	Het
Nubp1	T	C	16: 10,422,814		probably benign	Het
Olfr1140	A	T	2: 87,746,673	Q159L	probably benign	Het
Olfr832	T	C	9: 18,945,148	S167P	probably damaging	Het
Pcdh17	T	A	14: 84,447,457	S455T	probably damaging	Het
Picalm	C	A	7: 90,130,668	H32Q	probably benign	Het
Pold1	T	C	7: 44,535,092	E828G	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rala	A	T	13: 17,888,648	N119K	probably benign	Het
Rasal2	A	T	1: 157,147,792	V1149E	possibly damaging	Het
Rd3	A	G	1: 191,983,540	Y92C	probably damaging	Het
Sart1	A	T	19: 5,381,724	D635E	probably damaging	Het
Sec16b	A	G	1: 157,537,546	T335A	possibly damaging	Het
Slc11a2	C	T	15: 100,405,798	G185R	probably damaging	Het
Slc2a12	G	A	10: 22,665,068	R274H	probably damaging	Het
Spag17	T	C	3: 100,125,302	V2276A	probably damaging	Het
Tenm2	T	C	11: 36,163,730	D601G	probably damaging	Het
Tmem168	C	A	6: 13,603,361	C2F	probably damaging	Het
Tmem80	A	G	7: 141,333,696	Y13C	probably damaging	Het
Try4	T	A	6: 41,304,362	N79K	probably benign	Het
Vldlr	C	A	19: 27,247,918	N798K	probably damaging	Het
Wdr41	A	G	13: 94,995,305		probably benign	Het
Zfp30	A	T	7: 29,792,735	E138V	probably damaging	Het
Zfp366	A	C	13: 99,229,278	T316P	probably damaging	Het
Zfp563	A	T	17: 33,104,685	S85C	possibly damaging	Het
Znfx1	T	C	2: 167,041,701	H162R	probably damaging	Het

Other mutations in Tcam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03189:Tcam1	APN	11	106285386	missense	probably benign
IGL03396:Tcam1	APN	11	106285386	missense	probably benign
IGL03397:Tcam1	APN	11	106285386	missense	probably benign
R0241:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0241:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0306:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0313:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0378:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0380:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0381:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0382:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0393:Tcam1	UTSW	11	106284214	missense	probably benign	0.19
R0401:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0448:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0602:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R0669:Tcam1	UTSW	11	106285426	missense	possibly damaging	0.94
R0706:Tcam1	UTSW	11	106284078	missense	probably benign	0.31
R2307:Tcam1	UTSW	11	106284114	missense	probably damaging	1.00
R4957:Tcam1	UTSW	11	106282879	missense	probably damaging	1.00
R5050:Tcam1	UTSW	11	106285452	missense	possibly damaging	0.93
R5269:Tcam1	UTSW	11	106285527	missense	probably benign	0.24
R5437:Tcam1	UTSW	11	106285423	missense	probably damaging	1.00
R6235:Tcam1	UTSW	11	106284054	nonsense	probably null
R6248:Tcam1	UTSW	11	106282826	missense	probably benign	0.17
R6302:Tcam1	UTSW	11	106286450	missense	probably damaging	1.00
R7399:Tcam1	UTSW	11	106284085	missense	probably damaging	1.00
R8236:Tcam1	UTSW	11	106286417	missense	probably benign	0.01
R8402:Tcam1	UTSW	11	106286905	missense	probably damaging	0.99
R8751:Tcam1	UTSW	11	106285617	missense	possibly damaging	0.83
R8801:Tcam1	UTSW	11	106282792	missense	probably benign
R9228:Tcam1	UTSW	11	106286466	missense	probably damaging	1.00
R9233:Tcam1	UTSW	11	106284192	missense	probably benign	0.00
R9621:Tcam1	UTSW	11	106285433	missense	probably damaging	1.00
Z1177:Tcam1	UTSW	11	106282847	frame shift	probably null
Z1177:Tcam1	UTSW	11	106282850	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- CCAAGCTTCTTATGCCTCTGAGACC -3'
(R):5'- AGAAATTACGCCTGTCATTGTCCCG -3'

Sequencing Primer
(F):5'- GCCTCTGAGACCTCTCTGATAAG -3'
(R):5'- CGGTGGGCTCTGACAGTG -3'

Posted On

2013-06-12