Mutagenetix > Incidental Mutation

Incidental Mutation 'R0306:Tcam1'

35812

Institutional Source

Beutler Lab

Gene Symbol

Tcam1

Ensembl Gene

ENSMUSG00000020712

Gene Name

testicular cell adhesion molecule 1

Synonyms

4930570F09Rik

MMRRC Submission

038517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0306 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

106167498-106179571 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106174904 bp (GRCm39)

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: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	T	C	6: 48,953,020 (GRCm39)	V315A	probably damaging	Het
BC028528	C	T	3: 95,797,132 (GRCm39)		probably benign	Het
Bspry	T	C	4: 62,414,394 (GRCm39)	F329S	probably damaging	Het
Cd209a	A	G	8: 3,795,535 (GRCm39)	Y120H	probably benign	Het
Ces1f	T	C	8: 94,003,172 (GRCm39)		probably benign	Het
Cfap52	T	C	11: 67,844,896 (GRCm39)	N58D	probably benign	Het
Cfap74	G	A	4: 155,549,896 (GRCm39)		probably benign	Het
Chst8	T	C	7: 34,374,723 (GRCm39)	E372G	probably benign	Het
Cplane1	T	C	15: 8,209,373 (GRCm39)	V270A	probably damaging	Het
Ddx49	A	G	8: 70,747,322 (GRCm39)		probably benign	Het
Ddx52	G	T	11: 83,835,474 (GRCm39)	L133F	probably benign	Het
Defb26	T	A	2: 152,349,888 (GRCm39)	I131F	unknown	Het
Dip2c	T	A	13: 9,654,635 (GRCm39)	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Dytn	G	A	1: 63,724,272 (GRCm39)	P3S	possibly damaging	Het
Fmn2	T	C	1: 174,437,050 (GRCm39)		probably benign	Het
Gal3st1	T	A	11: 3,948,546 (GRCm39)	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,438,300 (GRCm39)		probably benign	Het
Il15	T	A	8: 83,061,083 (GRCm39)		probably benign	Het
Jag1	C	T	2: 136,927,855 (GRCm39)	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,744,530 (GRCm39)		probably benign	Het
Kdm3b	C	A	18: 34,937,070 (GRCm39)	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,403,283 (GRCm39)	I469F	probably damaging	Het
Mep1a	A	T	17: 43,813,534 (GRCm39)		probably benign	Het
Morn5	T	C	2: 35,944,986 (GRCm39)	F70S	probably damaging	Het
Nav2	C	A	7: 49,195,651 (GRCm39)	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,796,094 (GRCm39)	Y334C	probably damaging	Het
Nsun4	A	T	4: 115,910,019 (GRCm39)	Y180*	probably null	Het
Nup210l	T	C	3: 90,114,675 (GRCm39)	I1750T	probably benign	Het
Or51s1	A	T	7: 102,559,010 (GRCm39)	I12N	probably benign	Het
Or5p53	A	T	7: 107,532,907 (GRCm39)	Y60F	probably damaging	Het
Or8u9	T	A	2: 86,002,060 (GRCm39)	I34F	possibly damaging	Het
Parp14	A	G	16: 35,676,944 (GRCm39)	L1008P	probably benign	Het
Paxbp1	A	G	16: 90,819,003 (GRCm39)	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,227,520 (GRCm39)	Q42K	probably damaging	Het
Prkcsh	T	C	9: 21,917,822 (GRCm39)		probably benign	Het
Psmg1	A	G	16: 95,788,540 (GRCm39)	C138R	probably damaging	Het
Ptprb	T	C	10: 116,179,893 (GRCm39)	M1437T	probably benign	Het
Ryr3	A	G	2: 112,606,000 (GRCm39)		probably null	Het
Serpinf1	T	C	11: 75,304,761 (GRCm39)	Y200C	probably damaging	Het
Shox2	T	C	3: 66,881,167 (GRCm39)	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,881,485 (GRCm39)	F335L	probably benign	Het
Slc44a5	A	G	3: 153,975,638 (GRCm39)	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,019,987 (GRCm39)	T519S	probably benign	Het
Smarca2	T	A	19: 26,618,013 (GRCm39)	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,332,855 (GRCm39)	D521G	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Srp19	T	C	18: 34,467,629 (GRCm39)		probably benign	Het
Stk35	T	A	2: 129,643,683 (GRCm39)	Y222*	probably null	Het
Syt10	T	G	15: 89,711,191 (GRCm39)	K114T	probably benign	Het
Trpc4ap	A	G	2: 155,478,180 (GRCm39)	V662A	probably benign	Het
Ttll4	G	A	1: 74,735,916 (GRCm39)	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,168,000 (GRCm39)		probably benign	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Vmn1r230	T	A	17: 21,066,895 (GRCm39)	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,915,616 (GRCm39)	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,609,341 (GRCm39)	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,266,621 (GRCm39)	A292E	possibly damaging	Het

Other mutations in Tcam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03189:Tcam1	APN	11	106,176,212 (GRCm39)	missense	probably benign
IGL03396:Tcam1	APN	11	106,176,212 (GRCm39)	missense	probably benign
IGL03397:Tcam1	APN	11	106,176,212 (GRCm39)	missense	probably benign
R0241:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0241:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0313:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0378:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0380:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0381:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0382:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0393:Tcam1	UTSW	11	106,175,040 (GRCm39)	missense	probably benign	0.19
R0401:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0448:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0537:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0602:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R0669:Tcam1	UTSW	11	106,176,252 (GRCm39)	missense	possibly damaging	0.94
R0706:Tcam1	UTSW	11	106,174,904 (GRCm39)	missense	probably benign	0.31
R2307:Tcam1	UTSW	11	106,174,940 (GRCm39)	missense	probably damaging	1.00
R4957:Tcam1	UTSW	11	106,173,705 (GRCm39)	missense	probably damaging	1.00
R5050:Tcam1	UTSW	11	106,176,278 (GRCm39)	missense	possibly damaging	0.93
R5269:Tcam1	UTSW	11	106,176,353 (GRCm39)	missense	probably benign	0.24
R5437:Tcam1	UTSW	11	106,176,249 (GRCm39)	missense	probably damaging	1.00
R6235:Tcam1	UTSW	11	106,174,880 (GRCm39)	nonsense	probably null
R6248:Tcam1	UTSW	11	106,173,652 (GRCm39)	missense	probably benign	0.17
R6302:Tcam1	UTSW	11	106,177,276 (GRCm39)	missense	probably damaging	1.00
R7399:Tcam1	UTSW	11	106,174,911 (GRCm39)	missense	probably damaging	1.00
R8236:Tcam1	UTSW	11	106,177,243 (GRCm39)	missense	probably benign	0.01
R8402:Tcam1	UTSW	11	106,177,731 (GRCm39)	missense	probably damaging	0.99
R8751:Tcam1	UTSW	11	106,176,443 (GRCm39)	missense	possibly damaging	0.83
R8801:Tcam1	UTSW	11	106,173,618 (GRCm39)	missense	probably benign
R9228:Tcam1	UTSW	11	106,177,292 (GRCm39)	missense	probably damaging	1.00
R9233:Tcam1	UTSW	11	106,175,018 (GRCm39)	missense	probably benign	0.00
R9621:Tcam1	UTSW	11	106,176,259 (GRCm39)	missense	probably damaging	1.00
Z1177:Tcam1	UTSW	11	106,173,676 (GRCm39)	missense	probably benign	0.20
Z1177:Tcam1	UTSW	11	106,173,673 (GRCm39)	frame shift	probably null

Predicted Primers

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

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

Posted On

2013-05-09