Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Tcam1'

428438

Institutional Source

Beutler Lab

Gene Symbol

Tcam1

Ensembl Gene

ENSMUSG00000020712

Gene Name

testicular cell adhesion molecule 1

Synonyms

MMRRC Submission

043002-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106276672-106288745 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106285423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 325 (T325M)

Ref Sequence

ENSEMBL: ENSMUSP00000115544 (fasta)

Gene Model

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

AlphaFold

Q99NB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000044462
AA Change: T325M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044757
Gene: ENSMUSG00000020712
AA Change: T325M

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 damaging
Transcript: ENSMUST00000142472
AA Change: T325M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115544
Gene: ENSMUSG00000020712
AA Change: T325M

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

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
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Acsm3	C	A	7: 119,778,497		probably benign	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Cpne9	C	T	6: 113,304,630		probably benign	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dhtkd1	C	T	2: 5,924,119	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,777,474	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,421,023	D174A	probably damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mroh5	T	C	15: 73,787,969	I338V	probably benign	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Ndufs7	C	T	10: 80,254,924	R116C	possibly damaging	Het
Olfr1378	T	C	11: 50,969,108	M30T	probably benign	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Pygm	T	A	19: 6,390,382	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,141,014	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	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
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
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'- GCCTTTACAGGAGCAATGATG -3'
(R):5'- ACATGAAGCTGGCTCTCTGTG -3'

Sequencing Primer
(F):5'- AATGATGCTTTCCCAAGTCCC -3'
(R):5'- GGCTCTCTGTGGTCCTGAC -3'

Posted On

2016-09-01