Mutagenetix > Incidental Mutation

Incidental Mutation 'R8921:Tpm3-rs7'

679286

Institutional Source

Beutler Lab

Gene Symbol

Tpm3-rs7

Ensembl Gene

ENSMUSG00000058126

Gene Name

tropomyosin 3, related sequence 7

Synonyms

MMRRC Submission

068707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R8921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113552033-113554152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113552493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 129 (V129A)

Ref Sequence

ENSEMBL: ENSMUSP00000072197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072359]

AlphaFold

D3Z2H9

Predicted Effect

probably benign
Transcript: ENSMUST00000072359
AA Change: V129A

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072197
Gene: ENSMUSG00000058126
AA Change: V129A

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	3	117	7e-22	PFAM
Pfam:Tropomyosin	12	248	5e-90	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,844,933 (GRCm39)	E52V	probably benign	Het
4930516K23Rik	G	A	7: 103,708,083 (GRCm39)	T242M	probably damaging	Het
Abcg5	T	A	17: 84,990,253 (GRCm39)	I17F	probably benign	Het
Adam25	T	A	8: 41,207,710 (GRCm39)	Y325*	probably null	Het
Adamts16	C	T	13: 70,939,910 (GRCm39)		probably benign	Het
Akr1b1	A	T	6: 34,289,639 (GRCm39)	V57E	probably benign	Het
Api5	A	G	2: 94,255,374 (GRCm39)	L267P	probably damaging	Het
Asap3	T	C	4: 135,963,726 (GRCm39)	Y329H	probably benign	Het
Atp13a4	C	T	16: 29,273,592 (GRCm39)	R442K		Het
Cadps2	T	C	6: 23,302,300 (GRCm39)	D1129G	probably benign	Het
Cd79b	T	A	11: 106,203,632 (GRCm39)	Q145L	probably benign	Het
Cdh23	C	T	10: 60,140,908 (GRCm39)	E3147K	probably damaging	Het
Cfap251	A	G	5: 123,424,481 (GRCm39)	D722G	possibly damaging	Het
Col4a4	A	G	1: 82,431,533 (GRCm39)	W1584R	unknown	Het
Cops8	T	C	1: 90,532,155 (GRCm39)	L46P	probably damaging	Het
Cpne1	T	C	2: 155,913,965 (GRCm39)	Y146C	probably benign	Het
Ctdnep1	T	A	11: 69,875,311 (GRCm39)	V80E	probably damaging	Het
Cttnbp2	A	G	6: 18,434,877 (GRCm39)	I327T	probably benign	Het
Cyp4a32	T	C	4: 115,468,460 (GRCm39)	V314A	probably damaging	Het
Dlgap3	C	A	4: 127,127,463 (GRCm39)	H710Q	probably damaging	Het
Dnah9	T	C	11: 65,802,747 (GRCm39)	M3448V	probably benign	Het
E030018B13Rik	C	A	7: 63,569,727 (GRCm39)	Q84K	unknown	Het
Efna5	A	G	17: 63,188,053 (GRCm39)	S25P	possibly damaging	Het
Egfl8	T	G	17: 34,833,751 (GRCm39)	T76P	probably damaging	Het
Endod1	A	G	9: 14,268,942 (GRCm39)	L181P	probably damaging	Het
Epha3	A	G	16: 63,472,838 (GRCm39)	L349P	possibly damaging	Het
Fam161b	T	A	12: 84,395,056 (GRCm39)	T553S	probably benign	Het
Fmnl1	T	C	11: 103,087,967 (GRCm39)	F981L	unknown	Het
Galr2	T	A	11: 116,173,973 (GRCm39)	V201E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Greb1l	T	C	18: 10,541,825 (GRCm39)	S1191P	probably benign	Het
Hmg20b	T	C	10: 81,184,821 (GRCm39)	R84G	probably damaging	Het
Inppl1	T	C	7: 101,472,593 (GRCm39)	D1234G	possibly damaging	Het
Insl5	A	G	4: 102,883,760 (GRCm39)	S54P	probably damaging	Het
Itpr1	T	A	6: 108,355,159 (GRCm39)	F483L	possibly damaging	Het
Kif21a	T	C	15: 90,855,930 (GRCm39)	E609G	probably benign	Het
Kpna7	A	T	5: 144,941,840 (GRCm39)	V150D	probably damaging	Het
L1td1	T	A	4: 98,622,175 (GRCm39)	C246S	possibly damaging	Het
Laptm4a	T	A	12: 8,988,139 (GRCm39)	M292K	possibly damaging	Het
Lefty2	C	G	1: 180,725,043 (GRCm39)	P258A	possibly damaging	Het
Map4k1	G	A	7: 28,701,052 (GRCm39)	V719M	probably damaging	Het
Nbas	T	A	12: 13,463,590 (GRCm39)	H1292Q	probably benign	Het
Nfkbia	C	T	12: 55,537,340 (GRCm39)	G250S	probably damaging	Het
Nkain3	T	C	4: 20,245,902 (GRCm39)	T163A	unknown	Het
Npcd	T	C	15: 79,713,163 (GRCm39)	E88G	probably benign	Het
Oas1f	A	T	5: 120,989,556 (GRCm39)	Y165F	probably benign	Het
Or10d4	T	A	9: 39,580,737 (GRCm39)	L128*	probably null	Het
Or51aa5	A	G	7: 103,167,030 (GRCm39)	I187T	possibly damaging	Het
Or52e2	T	C	7: 102,804,660 (GRCm39)	D98G	probably benign	Het
Phtf2	T	C	5: 21,008,275 (GRCm39)	I135M	probably benign	Het
Pi4ka	T	C	16: 17,125,604 (GRCm39)	E1177G		Het
Polr3gl	A	T	3: 96,485,833 (GRCm39)	D214E	probably damaging	Het
Pramel25	C	T	4: 143,519,322 (GRCm39)	Q28*	probably null	Het
Pramel51	T	C	12: 88,143,952 (GRCm39)	E295G	probably benign	Het
Prkar1a	C	A	11: 109,556,744 (GRCm39)	Q275K	probably benign	Het
Ptprc	A	G	1: 138,054,039 (GRCm39)		probably null	Het
Pwwp2a	C	A	11: 43,596,344 (GRCm39)	P503Q	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,570,065 (GRCm39)	L1146S	probably benign	Het
Rara	C	A	11: 98,864,452 (GRCm39)	Q460K	unknown	Het
Rassf4	C	T	6: 116,638,897 (GRCm39)		probably benign	Het
Rere	A	G	4: 150,696,471 (GRCm39)	D492G	unknown	Het
Selenon	T	G	4: 134,268,153 (GRCm39)	K460T	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc35e1	T	C	8: 73,241,988 (GRCm39)	T245A	probably benign	Het
Stat4	C	T	1: 52,144,892 (GRCm39)	A726V	probably benign	Het
Stim1	G	T	7: 102,070,597 (GRCm39)	V277L	probably damaging	Het
Strbp	A	G	2: 37,514,503 (GRCm39)		probably null	Het
Tln2	T	C	9: 67,174,105 (GRCm39)	Y860C	probably damaging	Het
Tmod4	T	A	3: 95,033,289 (GRCm39)		probably null	Het
Trp53bp2	C	T	1: 182,273,971 (GRCm39)	P41S		Het
Tubal3	G	A	13: 3,983,428 (GRCm39)	D403N	probably damaging	Het
Zfp369	T	C	13: 65,444,044 (GRCm39)	S396P	possibly damaging	Het
Zfp976	G	A	7: 42,262,575 (GRCm39)	H422Y	possibly damaging	Het

Other mutations in Tpm3-rs7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02568:Tpm3-rs7	APN	14	113,552,370 (GRCm39)	missense	probably damaging	1.00
IGL02966:Tpm3-rs7	APN	14	113,552,810 (GRCm39)	nonsense	probably null
R1414:Tpm3-rs7	UTSW	14	113,552,274 (GRCm39)	missense	possibly damaging	0.61
R1789:Tpm3-rs7	UTSW	14	113,552,379 (GRCm39)	missense	probably damaging	0.99
R1823:Tpm3-rs7	UTSW	14	113,552,595 (GRCm39)	missense	possibly damaging	0.89
R5770:Tpm3-rs7	UTSW	14	113,552,807 (GRCm39)	missense	probably benign	0.00
R6612:Tpm3-rs7	UTSW	14	113,552,268 (GRCm39)	missense	probably benign	0.01
R6815:Tpm3-rs7	UTSW	14	113,552,292 (GRCm39)	missense	probably benign	0.09
R6818:Tpm3-rs7	UTSW	14	113,552,448 (GRCm39)	missense	possibly damaging	0.91
R8109:Tpm3-rs7	UTSW	14	113,552,772 (GRCm39)	missense	probably benign	0.00
R8985:Tpm3-rs7	UTSW	14	113,552,756 (GRCm39)	missense	probably benign	0.44
R9386:Tpm3-rs7	UTSW	14	113,552,597 (GRCm39)	missense	probably benign	0.00
Z1176:Tpm3-rs7	UTSW	14	113,552,109 (GRCm39)	start codon destroyed	probably null	0.62

Predicted Primers

PCR Primer
(F):5'- TCCAGCTGGTTGAAGAGGAG -3'
(R):5'- TTCAGCAAACTCAGCACGG -3'

Sequencing Primer
(F):5'- CTGGTTGAAGAGGAGCTGGACC -3'
(R):5'- AAACTCAGCACGGGTCTCTG -3'

Posted On

2021-08-02