Mutagenetix > Incidental Mutation

Incidental Mutation 'R8402:Tcam1'

652244

Institutional Source

Beutler Lab

Gene Symbol

Tcam1

Ensembl Gene

ENSMUSG00000020712

Gene Name

testicular cell adhesion molecule 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8402 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106276672-106288745 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106286905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 508 (L508Q)

Ref Sequence

ENSEMBL: ENSMUSP00000044757 (fasta)

Gene Model

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

AlphaFold

Q99NB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000044462
AA Change: L508Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044757
Gene: ENSMUSG00000020712
AA Change: L508Q

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

SMART Domains

Protein: ENSMUSP00000115544
Gene: ENSMUSG00000020712

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (36/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	A	6: 129,323,044	D157V	possibly damaging	Het
Adamts12	A	T	15: 11,263,290	K579N	probably damaging	Het
Adcy7	T	C	8: 88,308,735	V89A	probably benign	Het
Anapc1	G	A	2: 128,630,228	S1458L	probably benign	Het
AW551984	T	C	9: 39,597,653	Y325C	probably damaging	Het
Btnl4	T	C	17: 34,469,493	Y437C	probably damaging	Het
Ccdc88a	T	A	11: 29,463,879	S806T	probably damaging	Het
Ddit4l	A	G	3: 137,626,127	T85A	probably damaging	Het
Dmxl1	G	A	18: 49,878,326	W1183*	probably null	Het
Dmxl1	G	C	18: 49,878,327	D1184H	probably benign	Het
Dmxl1	G	T	18: 49,878,342	V1189L	probably benign	Het
Evpl	T	C	11: 116,225,371	D820G	probably benign	Het
Fam76b	T	C	9: 13,839,676	S289P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Gabrb2	T	C	11: 42,487,304	W116R	probably damaging	Het
Galnt7	G	A	8: 57,542,919	A355V	probably damaging	Het
Klk1b5	T	G	7: 44,218,538	F45V	probably benign	Het
Nav2	T	C	7: 49,453,437	V661A	probably benign	Het
Nfkbiz	T	C	16: 55,816,387	N517S	probably damaging	Het
Olfr1330	A	G	4: 118,893,519	I145M	probably benign	Het
Olfr975	T	A	9: 39,950,417	Y118F	probably benign	Het
P2rx1	T	C	11: 73,013,889	F368L	probably damaging	Het
Palld	A	T	8: 61,711,406	V417E	probably damaging	Het
Robo1	C	A	16: 73,024,497	A1375E	probably benign	Het
Rps24	G	T	14: 24,490,761		probably benign	Het
Serpind1	A	G	16: 17,337,085	N259D	probably benign	Het
Sh3bp4	C	A	1: 89,145,315	N628K	probably benign	Het
Tada3	A	T	6: 113,374,813	L177Q	probably damaging	Het
Thbs1	T	C	2: 118,115,878	S360P	possibly damaging	Het
Tmem33	T	C	5: 67,267,375		probably benign	Het
Vmn2r3	A	G	3: 64,271,196		probably benign	Het
Vwa3b	A	G	1: 37,165,798	E121G	probably damaging	Het
Zfp607b	T	A	7: 27,702,702	H194Q	probably damaging	Het
Zfp729b	G	A	13: 67,592,577	P523L	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
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
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'- ATTCTCCCTCAAACGTGGAGG -3'
(R):5'- TCCCTGTAAATGCTGGTAGCTG -3'

Sequencing Primer
(F):5'- AGAGAGATGCTCCTGGGCTG -3'
(R):5'- ATGCTGGTAGCTGAAGTCACACTC -3'

Posted On

2020-10-20