Mutagenetix > Incidental Mutation

Incidental Mutation 'R0313:Tcam1'

25349

Institutional Source

Beutler Lab

Gene Symbol

Tcam1

Ensembl Gene

ENSMUSG00000020712

Gene Name

testicular cell adhesion molecule 1

Synonyms

MMRRC Submission

038523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0313 (G1)

Quality Score

225

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: 98.8%
3x: 97.7%
10x: 94.9%
20x: 88.5%

Validation Efficiency

98% (40/41)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	A	G	6: 58,672,097	E309G	probably benign	Het
AI314180	A	G	4: 58,811,892	I1411T	probably benign	Het
Ankmy1	C	T	1: 92,886,221	G412D	probably damaging	Het
Cc2d1a	G	A	8: 84,136,969	T542I	probably benign	Het
Cldn18	T	C	9: 99,698,914	I94V	probably benign	Het
Cobll1	G	A	2: 65,095,744	R1195*	probably null	Het
Dnah7b	A	G	1: 46,207,643	T1660A	probably damaging	Het
Dzip3	G	T	16: 48,937,061	Q870K	probably damaging	Het
Ebf4	T	C	2: 130,306,787		probably benign	Het
Esyt2	T	C	12: 116,347,808	L439P	probably damaging	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Haspin	A	G	11: 73,136,298	V655A	probably damaging	Het
Kmt2c	T	C	5: 25,344,930	E1351G	probably damaging	Het
Lama2	C	A	10: 26,993,398		probably null	Het
Lcp1	A	G	14: 75,199,433	E73G	probably damaging	Het
Ltv1	C	T	10: 13,182,860		probably null	Het
Mcmdc2	A	G	1: 9,932,141	Y529C	probably damaging	Het
Myo3b	T	A	2: 70,348,959	Y1172*	probably null	Het
Ncf1	T	C	5: 134,229,567	M1V	probably null	Het
Olfr1297	C	T	2: 111,621,600	S158N	possibly damaging	Het
Olfr250	T	C	9: 38,368,304	S243P	probably damaging	Het
Olfr765	A	G	10: 129,046,826	V79A	possibly damaging	Het
Pcif1	A	T	2: 164,884,419	H80L	probably damaging	Het
Pclo	T	C	5: 14,678,873		probably benign	Het
Polr2a	T	C	11: 69,735,080	Y1710C	unknown	Het
Ppp1r37	G	A	7: 19,533,998	T324I	probably damaging	Het
Prmt1	T	C	7: 44,978,748	D176G	probably benign	Het
Scn5a	T	C	9: 119,534,571	D501G	probably damaging	Het
Ska2	A	G	11: 87,117,814	I89M	possibly damaging	Het
Slc39a7	G	A	17: 34,029,544	A375V	probably damaging	Het
Ssrp1	T	A	2: 85,041,554	I374N	probably damaging	Het
Stox2	C	T	8: 47,192,134	G828R	probably damaging	Het
Uqcrc1	C	A	9: 108,948,574	R114S	possibly damaging	Het
Usp38	A	T	8: 80,984,442	L988*	probably null	Het
Vmn2r5	T	A	3: 64,503,827	H440L	probably benign	Het
Wdr12	A	T	1: 60,082,579	I271N	possibly damaging	Het
Xylt2	C	T	11: 94,669,894		probably benign	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
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
R0537: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

2013-04-16