Mutagenetix > Incidental Mutation

Incidental Mutation 'R8048:Tmc7'

618882

Institutional Source

Beutler Lab

Gene Symbol

Tmc7

Ensembl Gene

ENSMUSG00000042246

Gene Name

transmembrane channel-like gene family 7

Synonyms

1700030H01Rik, C630024K23Rik

MMRRC Submission

067485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118135064-118183959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118165468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 82 (N82S)

Ref Sequence

ENSEMBL: ENSMUSP00000046927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044195]

AlphaFold

Q8C428

Predicted Effect

probably benign
Transcript: ENSMUST00000044195
AA Change: N82S

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

SMART Domains

Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
AA Change: N82S

Domain	Start	End	E-Value	Type
transmembrane domain	167	189	N/A	INTRINSIC
transmembrane domain	216	238	N/A	INTRINSIC
transmembrane domain	258	280	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	402	424	N/A	INTRINSIC
Pfam:TMC	484	595	5.2e-51	PFAM
transmembrane domain	599	621	N/A	INTRINSIC
transmembrane domain	664	686	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,228,708 (GRCm39)	L318F	probably damaging	Het
Alms1	T	A	6: 85,618,316 (GRCm39)	S2318R	probably benign	Het
Arhgap12	G	A	18: 6,052,883 (GRCm39)	T443I	probably benign	Het
Arhgap29	C	T	3: 121,786,550 (GRCm39)	R372W	probably damaging	Het
Astn1	T	C	1: 158,516,208 (GRCm39)	I1266T	probably benign	Het
Bsg	T	C	10: 79,545,580 (GRCm39)	V164A	probably benign	Het
C1qa	G	T	4: 136,623,921 (GRCm39)	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,862 (GRCm39)	V92A	probably benign	Het
Ccdc187	T	A	2: 26,183,526 (GRCm39)	D158V	possibly damaging	Het
Cngb1	T	A	8: 95,989,838 (GRCm39)	Y758F	possibly damaging	Het
Ddx4	G	A	13: 112,758,706 (GRCm39)	A285V	probably null	Het
Dsg1c	A	T	18: 20,407,824 (GRCm39)	K390M	probably damaging	Het
Dst	T	C	1: 34,229,717 (GRCm39)	F2437L	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,533,959 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,694,482 (GRCm39)	I303V	probably benign	Het
Ffar1	A	T	7: 30,560,003 (GRCm39)	I298N	probably benign	Het
Hpx	C	T	7: 105,244,685 (GRCm39)	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,098,786 (GRCm39)	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903 (GRCm38)	D99G	probably benign	Het
Ivl	T	A	3: 92,479,231 (GRCm39)	K278M	probably damaging	Het
Lyst	A	G	13: 13,862,230 (GRCm39)	T2589A	probably benign	Het
Madd	A	T	2: 90,984,793 (GRCm39)	M1359K	probably damaging	Het
Nav3	T	C	10: 109,600,779 (GRCm39)	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,156,661 (GRCm39)	C439*	probably null	Het
Nebl	T	C	2: 17,429,333 (GRCm39)	D266G	probably benign	Het
Oas1f	G	T	5: 120,985,602 (GRCm39)	G49V	probably damaging	Het
Oas1f	A	T	5: 120,986,479 (GRCm39)	Q144L	possibly damaging	Het
Or11g7	T	C	14: 50,691,373 (GRCm39)	L288P	possibly damaging	Het
Or2ab1	A	G	11: 58,488,233 (GRCm39)	I6V	unknown	Het
Or2n1	T	C	17: 38,486,419 (GRCm39)	V148A	probably benign	Het
Or5an6	A	G	19: 12,371,719 (GRCm39)	I31V	not run	Het
Or5j3	C	T	2: 86,128,672 (GRCm39)	P171S	probably benign	Het
Or5m3	T	G	2: 85,838,524 (GRCm39)	S135A	probably damaging	Het
Or5t18	T	A	2: 86,636,515 (GRCm39)	Y276F	probably damaging	Het
Or6b6	C	T	7: 106,571,671 (GRCm39)		probably benign	Het
Or8b52	C	T	9: 38,577,108 (GRCm39)	E11K	probably benign	Het
Or8j3c	T	A	2: 86,253,651 (GRCm39)	Y123F	probably damaging	Het
Pard3b	T	A	1: 62,193,148 (GRCm39)	V217E	probably damaging	Het
Pcdha2	T	A	18: 37,072,513 (GRCm39)	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,120,991 (GRCm39)	F1248L		Het
Plekha2	A	T	8: 25,554,005 (GRCm39)		probably benign	Het
Plpp4	C	T	7: 128,981,201 (GRCm39)	R151C	unknown	Het
Pramel14	T	A	4: 143,718,177 (GRCm39)	Y422F	probably benign	Het
Prdm16	A	G	4: 154,405,339 (GRCm39)	L1245P	probably damaging	Het
Prob1	G	A	18: 35,786,604 (GRCm39)	A550V	probably benign	Het
Prok1	T	C	3: 107,144,408 (GRCm39)	H65R	probably benign	Het
Ptcd1	A	G	5: 145,091,887 (GRCm39)	V404A	probably benign	Het
Sbf2	T	C	7: 109,914,289 (GRCm39)	E1631G	probably benign	Het
Sdad1	C	A	5: 92,447,948 (GRCm39)	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,794,272 (GRCm39)	A547S	probably benign	Het
Sptb	T	C	12: 76,675,333 (GRCm39)	D227G	probably benign	Het
Tbx1	A	G	16: 18,406,769 (GRCm39)	M1T	probably null	Het
Tespa1	T	A	10: 130,183,208 (GRCm39)	V51D	probably damaging	Het
Tmem8b	A	G	4: 43,689,476 (GRCm39)	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,493 (GRCm39)	T23S	probably damaging	Het
Trib3	A	T	2: 152,180,553 (GRCm39)	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,013,981 (GRCm39)	V178A	probably benign	Het
Virma	T	A	4: 11,539,918 (GRCm39)	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,691,762 (GRCm39)	T254A	probably benign	Het
Vps13d	A	G	4: 144,882,137 (GRCm39)	V1152A		Het
Wdr47	T	C	3: 108,526,284 (GRCm39)	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,561,977 (GRCm39)	D676E	unknown	Het
Zc3h6	T	A	2: 128,858,934 (GRCm39)	S988R	probably benign	Het

Other mutations in Tmc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Tmc7	APN	7	118,151,985 (GRCm39)	missense	probably damaging	1.00
IGL01456:Tmc7	APN	7	118,146,533 (GRCm39)	splice site	probably benign
IGL01784:Tmc7	APN	7	118,146,538 (GRCm39)	critical splice donor site	probably null
IGL02158:Tmc7	APN	7	118,137,434 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Tmc7	UTSW	7	118,146,624 (GRCm39)	missense	possibly damaging	0.86
PIT4403001:Tmc7	UTSW	7	118,146,623 (GRCm39)	missense	probably benign	0.04
PIT4696001:Tmc7	UTSW	7	118,163,566 (GRCm39)	missense	probably benign	0.04
R1164:Tmc7	UTSW	7	118,141,247 (GRCm39)	missense	probably benign	0.01
R1169:Tmc7	UTSW	7	118,150,483 (GRCm39)	missense	probably benign	0.00
R1170:Tmc7	UTSW	7	118,150,483 (GRCm39)	missense	probably benign	0.00
R1420:Tmc7	UTSW	7	118,165,440 (GRCm39)	nonsense	probably null
R1885:Tmc7	UTSW	7	118,160,310 (GRCm39)	missense	possibly damaging	0.95
R1886:Tmc7	UTSW	7	118,160,310 (GRCm39)	missense	possibly damaging	0.95
R1887:Tmc7	UTSW	7	118,160,310 (GRCm39)	missense	possibly damaging	0.95
R1923:Tmc7	UTSW	7	118,144,850 (GRCm39)	missense	probably benign	0.08
R2220:Tmc7	UTSW	7	118,152,039 (GRCm39)	missense	possibly damaging	0.87
R4858:Tmc7	UTSW	7	118,142,565 (GRCm39)	missense	probably damaging	1.00
R5000:Tmc7	UTSW	7	118,158,077 (GRCm39)	critical splice donor site	probably null
R5038:Tmc7	UTSW	7	118,142,588 (GRCm39)	missense	probably damaging	1.00
R5075:Tmc7	UTSW	7	118,151,919 (GRCm39)	critical splice donor site	probably null
R5272:Tmc7	UTSW	7	118,160,276 (GRCm39)	missense	probably benign
R5691:Tmc7	UTSW	7	118,141,116 (GRCm39)	missense	probably benign
R5800:Tmc7	UTSW	7	118,138,663 (GRCm39)	missense	probably benign
R5889:Tmc7	UTSW	7	118,165,549 (GRCm39)	missense	probably benign	0.00
R5939:Tmc7	UTSW	7	118,144,950 (GRCm39)	missense	probably benign	0.33
R6251:Tmc7	UTSW	7	118,160,261 (GRCm39)	missense	possibly damaging	0.83
R6642:Tmc7	UTSW	7	118,144,834 (GRCm39)	nonsense	probably null
R6644:Tmc7	UTSW	7	118,137,385 (GRCm39)	missense	probably benign
R6814:Tmc7	UTSW	7	118,146,846 (GRCm39)	missense	probably benign	0.07
R6872:Tmc7	UTSW	7	118,146,846 (GRCm39)	missense	probably benign	0.07
R6967:Tmc7	UTSW	7	118,146,901 (GRCm39)	missense	probably benign	0.00
R7165:Tmc7	UTSW	7	118,155,157 (GRCm39)	missense	probably benign	0.00
R7492:Tmc7	UTSW	7	118,141,189 (GRCm39)	missense	probably benign	0.00
R7543:Tmc7	UTSW	7	118,144,979 (GRCm39)	missense	probably benign	0.01
R8962:Tmc7	UTSW	7	118,160,228 (GRCm39)	missense	probably benign	0.00
R8964:Tmc7	UTSW	7	118,160,228 (GRCm39)	missense	probably benign	0.00
R8966:Tmc7	UTSW	7	118,160,228 (GRCm39)	missense	probably benign	0.00
R8967:Tmc7	UTSW	7	118,160,228 (GRCm39)	missense	probably benign	0.00
R9480:Tmc7	UTSW	7	118,141,226 (GRCm39)	missense	probably benign
R9614:Tmc7	UTSW	7	118,141,160 (GRCm39)	missense	probably benign	0.01
R9743:Tmc7	UTSW	7	118,150,452 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGGTGAACAACTTCTTGAAGGTC -3'
(R):5'- ACCTGTCTCTGGGTTCTAGC -3'

Sequencing Primer
(F):5'- TTCTTGAAGGTCACAGCAGC -3'
(R):5'- AGCTGTTTCTCTCCACCTGTGAAC -3'

Posted On

2020-01-23