Mutagenetix > Incidental Mutation

Incidental Mutation 'R9551:Tmco4'

720480

Institutional Source

Beutler Lab

Gene Symbol

Tmco4

Ensembl Gene

ENSMUSG00000041143

Gene Name

transmembrane and coiled-coil domains 4

Synonyms

4632413C14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R9551 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138700199-138786482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138779895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 447 (V447M)

Ref Sequence

ENSEMBL: ENSMUSP00000041388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043042] [ENSMUST00000050949]

AlphaFold

Q91WU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043042
AA Change: V447M

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

SMART Domains

Protein: ENSMUSP00000041388
Gene: ENSMUSG00000041143
AA Change: V447M

Domain	Start	End	E-Value	Type
Pfam:DUF726	182	518	1.1e-138	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000050949
AA Change: V447M

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

SMART Domains

Protein: ENSMUSP00000059320
Gene: ENSMUSG00000041143
AA Change: V447M

Domain	Start	End	E-Value	Type
Pfam:DUF726	182	518	5.3e-145	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Cep120	C	A	18: 53,819,033 (GRCm39)	R886L	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cnbp	A	G	6: 87,822,108 (GRCm39)	Y139H	probably damaging	Het
Csmd3	T	A	15: 48,655,356 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,172,246 (GRCm39)	V387A	probably damaging	Het
Dab2ip	T	A	2: 35,605,330 (GRCm39)	C504S	possibly damaging	Het
Depdc7	C	T	2: 104,553,220 (GRCm39)		probably null	Het
Edrf1	A	G	7: 133,240,742 (GRCm39)	D73G	probably damaging	Het
Elp3	T	C	14: 65,797,634 (GRCm39)	I365V	probably benign	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Fam124a	T	G	14: 62,843,988 (GRCm39)	S499A	possibly damaging	Het
Has2	T	C	15: 56,531,090 (GRCm39)	K542E	probably benign	Het
Hnrnpk	A	G	13: 58,544,058 (GRCm39)	S116P	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Kif14	C	A	1: 136,455,219 (GRCm39)	S1630R	probably damaging	Het
Madd	T	C	2: 91,000,434 (GRCm39)	T544A	probably damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mfsd9	T	C	1: 40,813,152 (GRCm39)	T388A	probably damaging	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Myh11	T	A	16: 14,064,673 (GRCm39)	E215V		Het
Nmd3	T	C	3: 69,647,329 (GRCm39)	V277A	possibly damaging	Het
Or11g1	C	T	14: 50,651,625 (GRCm39)	S208F	probably benign	Het
Or2y14	C	T	11: 49,404,942 (GRCm39)	T159I	probably damaging	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pdzrn3	T	C	6: 101,127,855 (GRCm39)	D937G	probably damaging	Het
Phb1	G	A	11: 95,562,257 (GRCm39)	V45I	probably benign	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Piezo2	T	C	18: 63,166,033 (GRCm39)	E2066G	possibly damaging	Het
Pkn2	T	C	3: 142,499,594 (GRCm39)	D977G	probably damaging	Het
Polr1b	C	T	2: 128,957,684 (GRCm39)	R580*	probably null	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rpain	T	C	11: 70,865,816 (GRCm39)	S194P	probably damaging	Het
Scaf1	A	G	7: 44,658,351 (GRCm39)	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,033,974 (GRCm39)	A78E	probably benign	Het
Scgb2b19	A	G	7: 32,979,198 (GRCm39)	F28S	probably damaging	Het
Setx	T	C	2: 29,020,244 (GRCm39)	M77T	possibly damaging	Het
Skint5	C	T	4: 113,798,052 (GRCm39)	C177Y	possibly damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Ssb	T	A	2: 69,696,982 (GRCm39)	D107E	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Vmn1r82	A	G	7: 12,039,600 (GRCm39)	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Wnt10b	C	A	15: 98,670,713 (GRCm39)	G272W	probably damaging	Het
Xpo4	A	G	14: 57,828,512 (GRCm39)	F783L	possibly damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp1005	C	A	2: 150,109,856 (GRCm39)	T182K	unknown	Het
Zfp512	G	A	5: 31,623,676 (GRCm39)	C14Y	probably benign	Het
Zfp595	A	T	13: 67,465,067 (GRCm39)	S402T	probably damaging	Het
Zfp658	G	T	7: 43,222,567 (GRCm39)	V281F	probably benign	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	Het

Other mutations in Tmco4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00741:Tmco4	APN	4	138,723,885 (GRCm39)	critical splice donor site	probably null
IGL01346:Tmco4	APN	4	138,748,260 (GRCm39)	missense	probably damaging	0.97
IGL02552:Tmco4	APN	4	138,785,690 (GRCm39)	missense	probably benign	0.00
IGL02644:Tmco4	APN	4	138,737,920 (GRCm39)	splice site	probably benign
IGL02676:Tmco4	APN	4	138,750,380 (GRCm39)	critical splice donor site	probably null
IGL02741:Tmco4	APN	4	138,757,188 (GRCm39)	missense	probably damaging	1.00
R0116:Tmco4	UTSW	4	138,781,231 (GRCm39)	missense	probably damaging	1.00
R0611:Tmco4	UTSW	4	138,747,383 (GRCm39)	missense	probably damaging	1.00
R4034:Tmco4	UTSW	4	138,748,172 (GRCm39)	missense	probably damaging	1.00
R4612:Tmco4	UTSW	4	138,717,871 (GRCm39)	missense	probably benign
R4785:Tmco4	UTSW	4	138,725,350 (GRCm39)	missense	probably damaging	0.97
R4981:Tmco4	UTSW	4	138,718,012 (GRCm39)	missense	possibly damaging	0.63
R5040:Tmco4	UTSW	4	138,747,477 (GRCm39)	missense	probably damaging	1.00
R5052:Tmco4	UTSW	4	138,785,817 (GRCm39)	missense	probably benign
R5074:Tmco4	UTSW	4	138,785,433 (GRCm39)	missense	probably damaging	0.98
R5364:Tmco4	UTSW	4	138,779,815 (GRCm39)	missense	probably damaging	0.99
R5445:Tmco4	UTSW	4	138,748,178 (GRCm39)	missense	probably damaging	1.00
R5598:Tmco4	UTSW	4	138,781,216 (GRCm39)	missense	probably damaging	1.00
R6959:Tmco4	UTSW	4	138,737,810 (GRCm39)	missense	probably damaging	0.99
R7539:Tmco4	UTSW	4	138,749,010 (GRCm39)	missense	probably benign	0.33
R7662:Tmco4	UTSW	4	138,737,872 (GRCm39)	missense	probably benign	0.00
R7981:Tmco4	UTSW	4	138,785,772 (GRCm39)	missense	probably damaging	1.00
R7996:Tmco4	UTSW	4	138,748,172 (GRCm39)	missense	probably damaging	1.00
R8543:Tmco4	UTSW	4	138,781,251 (GRCm39)	missense	probably benign	0.01
R9460:Tmco4	UTSW	4	138,747,387 (GRCm39)	missense	probably damaging	1.00
R9552:Tmco4	UTSW	4	138,779,895 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGACATGTGAGGGTCGAC -3'
(R):5'- ATCTGAACCTCTGGGCCTAG -3'

Sequencing Primer
(F):5'- GTGTATGTGTGTGCACTACCCC -3'
(R):5'- CCTAGGCACAGTGCTGAC -3'

Posted On

2022-08-09