Mutagenetix > Incidental Mutation

Incidental Mutation 'R0448:Tcam1'

39462

Institutional Source

Beutler Lab

Gene Symbol

Tcam1

Ensembl Gene

ENSMUSG00000020712

Gene Name

testicular cell adhesion molecule 1

Synonyms

MMRRC Submission

038648-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0448 (G1)

Quality Score

132

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,933,057	S643C	probably damaging	Het
9530053A07Rik	T	C	7: 28,140,235	I491T	probably benign	Het
Abcc5	G	A	16: 20,399,937	R232C	probably damaging	Het
Adam9	A	G	8: 24,964,910	S732P	probably damaging	Het
Add2	G	A	6: 86,092,919	V140I	probably benign	Het
Ahi1	G	A	10: 20,972,075	G461S	probably damaging	Het
Arhgef7	A	G	8: 11,819,659	T432A	possibly damaging	Het
Arsi	T	C	18: 60,917,302	I419T	probably damaging	Het
Brca1	G	A	11: 101,508,221	P1515L	possibly damaging	Het
Brcc3	T	A	X: 75,450,041	L222*	probably null	Het
Brpf3	A	T	17: 28,806,036	T28S	probably benign	Het
Cdc20b	T	A	13: 113,078,657	V253E	probably damaging	Het
Cnot6l	T	A	5: 96,080,046	S443C	probably benign	Het
Copg1	G	A	6: 87,904,926	A587T	probably benign	Het
Crebrf	A	G	17: 26,743,102	D391G	probably benign	Het
Crocc	A	T	4: 141,042,191	D283E	probably damaging	Het
Cryga	T	C	1: 65,103,159	N25S	probably benign	Het
Csnk1g1	T	C	9: 65,980,948	F90L	possibly damaging	Het
Cyp2j6	A	G	4: 96,545,728	V115A	probably benign	Het
Cyp3a11	T	C	5: 145,862,394	I328V	probably benign	Het
Dchs1	C	A	7: 105,765,927	E683D	probably benign	Het
Dnah9	T	C	11: 65,918,713		probably benign	Het
Dqx1	T	C	6: 83,060,345	S330P	probably damaging	Het
Epg5	A	G	18: 78,023,365	Y2160C	probably damaging	Het
Ercc5	T	C	1: 44,173,940	L742P	probably damaging	Het
Flt1	C	T	5: 147,566,394		probably benign	Het
Gm9513	T	A	9: 36,477,116	M79K	probably benign	Het
Grip2	A	G	6: 91,779,213	S498P	probably damaging	Het
H2-T22	A	G	17: 36,042,386	L14P	possibly damaging	Het
Hephl1	C	T	9: 15,076,926	G629S	probably damaging	Het
Hsdl2	T	A	4: 59,606,523	M162K	unknown	Het
Kcnh8	C	A	17: 52,977,620		probably null	Het
Krt76	T	C	15: 101,890,647	Q201R	probably damaging	Het
Lrpprc	A	T	17: 84,770,894	Y319N	probably benign	Het
Lrrk2	T	G	15: 91,709,305	I489R	probably damaging	Het
Mboat1	G	T	13: 30,202,410	D136Y	probably damaging	Het
Mcmdc2	T	C	1: 9,940,542	*682Q	probably null	Het
Msx2	C	A	13: 53,468,395	R193L	probably damaging	Het
Nfatc4	T	G	14: 55,831,654	D625E	possibly damaging	Het
Nup153	T	C	13: 46,717,181	E86G	probably benign	Het
Olfr1295	T	A	2: 111,565,214	I77F	probably benign	Het
Olfr130	G	T	17: 38,067,672	R167L	probably benign	Het
Pard3b	T	C	1: 62,166,469	L474P	probably damaging	Het
Pggt1b	A	T	18: 46,262,972		probably benign	Het
Pik3r2	A	G	8: 70,772,044		probably benign	Het
Prr14	A	G	7: 127,474,726		probably benign	Het
Rcbtb2	T	C	14: 73,178,429		probably benign	Het
Rufy2	G	A	10: 63,004,736	D429N	probably benign	Het
S1pr5	T	A	9: 21,244,207	T308S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Serpina12	A	G	12: 104,038,095	S93P	probably benign	Het
Serpinb1b	T	G	13: 33,089,692	H123Q	probably benign	Het
Sftpc	C	T	14: 70,522,680	V46I	probably benign	Het
Skint8	T	A	4: 111,936,890	V159D	probably damaging	Het
Slc25a11	T	C	11: 70,645,579	N134S	probably benign	Het
Slc25a24	T	C	3: 109,157,016		probably benign	Het
Sorl1	C	G	9: 42,004,088	V1282L	probably damaging	Het
Sptan1	T	A	2: 30,026,810	I2170N	probably damaging	Het
Syne4	A	G	7: 30,314,920		probably benign	Het
Tg	C	A	15: 66,764,442	P626Q	probably damaging	Het
Thoc6	T	A	17: 23,669,576	D196V	probably damaging	Het
Tpi1	A	G	6: 124,814,103	F57S	probably damaging	Het
Tril	A	G	6: 53,817,808	*810Q	probably null	Het
Trrap	T	A	5: 144,839,567	V2972D	possibly damaging	Het
Ttn	T	C	2: 76,720,939	M31370V	probably damaging	Het
Ttn	A	T	2: 76,761,280	V12688E	probably damaging	Het
Txndc11	A	G	16: 11,091,761	F307S	probably damaging	Het
Vmn1r40	C	T	6: 89,714,660	S153L	probably benign	Het
Vmn2r95	A	G	17: 18,451,743	T581A	possibly damaging	Het
Wdtc1	A	G	4: 133,297,500	F462S	probably damaging	Het
Zfp101	A	G	17: 33,382,321	S154P	possibly damaging	Het
Zmym6	A	G	4: 127,108,694	N481D	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
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
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

2013-05-23