Mutagenetix > Incidental Mutation

Incidental Mutation 'R8801:Tcam1'

671507

Institutional Source

Beutler Lab

Gene Symbol

Tcam1

Ensembl Gene

ENSMUSG00000020712

Gene Name

testicular cell adhesion molecule 1

Synonyms

4930570F09Rik

MMRRC Submission

068611-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106167498-106179571 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106173618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 21 (A21T)

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: A21T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044757
Gene: ENSMUSG00000020712
AA Change: A21T

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: A21T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115544
Gene: ENSMUSG00000020712
AA Change: A21T

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: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	A	6: 92,808,972 (GRCm39)	V100I	unknown	Het
Acta2	G	T	19: 34,229,207 (GRCm39)	Q61K	probably damaging	Het
Adamts20	T	G	15: 94,258,490 (GRCm39)	D357A	probably damaging	Het
Adcy4	A	G	14: 56,009,452 (GRCm39)	F798S	probably benign	Het
Aldh16a1	A	G	7: 44,791,438 (GRCm39)	V779A	probably benign	Het
Arid1b	C	A	17: 5,387,103 (GRCm39)	P1466T	probably benign	Het
B3gnt2	T	C	11: 22,787,002 (GRCm39)	E62G	probably damaging	Het
Bcan	A	C	3: 87,904,582 (GRCm39)	V58G	probably damaging	Het
Bhlhe41	T	C	6: 145,810,339 (GRCm39)	Q66R	probably damaging	Het
Cdh6	G	A	15: 13,044,847 (GRCm39)	T425I	probably damaging	Het
Ciao2b	C	T	8: 105,367,599 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,457,195 (GRCm39)	Y3554C	probably damaging	Het
Csmd3	T	A	15: 48,321,024 (GRCm39)	H262L	possibly damaging	Het
Dgcr8	A	G	16: 18,098,500 (GRCm39)	F334S	probably damaging	Het
Dipk1c	T	C	18: 84,757,617 (GRCm39)	S234P	probably benign	Het
Dsg1c	A	G	18: 20,410,022 (GRCm39)	T497A	probably benign	Het
Dsp	T	C	13: 38,381,502 (GRCm39)	V2749A	possibly damaging	Het
Esr1	A	G	10: 4,916,270 (GRCm39)	N486D	unknown	Het
Fbn2	T	C	18: 58,287,021 (GRCm39)	T213A	probably damaging	Het
Fbxo41	T	A	6: 85,461,663 (GRCm39)	E15V	probably damaging	Het
Fga	G	A	3: 82,938,188 (GRCm39)	A188T	possibly damaging	Het
Frk	C	T	10: 34,423,402 (GRCm39)	S160F	possibly damaging	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 141,827,553 (GRCm39)		probably benign	Het
Gss	T	C	2: 155,406,686 (GRCm39)	Y432C	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,298 (GRCm39)	F5I	unknown	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Klf12	T	G	14: 100,260,172 (GRCm39)	I186L	probably benign	Het
Klrg1	C	T	6: 122,248,342 (GRCm39)	V186I	probably benign	Het
Loxl3	G	T	6: 83,025,629 (GRCm39)	W329L	probably damaging	Het
Lyst	T	A	13: 13,835,595 (GRCm39)	V1759E	probably benign	Het
Mlph	G	A	1: 90,870,609 (GRCm39)	V507I	probably benign	Het
Mroh8	G	A	2: 157,075,086 (GRCm39)	T470M	probably damaging	Het
Nampt	T	C	12: 32,888,373 (GRCm39)	Y175H	possibly damaging	Het
Nedd4l	A	G	18: 65,288,346 (GRCm39)	E2G	probably damaging	Het
Nrxn1	A	G	17: 91,009,393 (GRCm39)		probably benign	Het
Optc	A	G	1: 133,832,819 (GRCm39)	S94P	possibly damaging	Het
Or8k33	A	G	2: 86,383,727 (GRCm39)	V247A	probably benign	Het
Oxtr	T	A	6: 112,466,873 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,758,305 (GRCm39)	R1463G	probably benign	Het
Pramel30	A	G	4: 144,059,438 (GRCm39)	Y383C	probably benign	Het
Psmc3ip	T	C	11: 100,984,617 (GRCm39)	N76S	probably benign	Het
Reln	T	A	5: 22,155,854 (GRCm39)	M2213L	possibly damaging	Het
Rock1	T	C	18: 10,070,260 (GRCm39)	D1271G	probably damaging	Het
Rprd1a	T	G	18: 24,641,280 (GRCm39)	E112A	probably benign	Het
Sacm1l	A	T	9: 123,411,384 (GRCm39)	D391V	probably damaging	Het
Serpina3f	A	T	12: 104,185,737 (GRCm39)	H314L	probably benign	Het
Setd5	T	A	6: 113,127,853 (GRCm39)	S1269T	possibly damaging	Het
Syne1	T	C	10: 5,308,335 (GRCm39)	E740G	probably damaging	Het
Tcaf1	T	A	6: 42,663,742 (GRCm39)	Q46L	probably damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttll11	A	T	2: 35,792,985 (GRCm39)	L286H	probably damaging	Het
Usp1	A	G	4: 98,822,848 (GRCm39)	T721A	probably benign	Het
Vps41	T	C	13: 18,998,403 (GRCm39)	S241P	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
R0306: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
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'- TGTGGCAAGATCTAGACCACAG -3'
(R):5'- GTGATGTCCTCCAGGAGAAAC -3'

Sequencing Primer
(F):5'- AGTGAGACCAGGGTCCAGACTC -3'
(R):5'- GGAGAAACTCCTTCCACTGG -3'

Posted On

2021-04-30