Mutagenetix > Incidental Mutation

Incidental Mutation 'R0366:Tmem171'

36434

Institutional Source

Beutler Lab

Gene Symbol

Tmem171

Ensembl Gene

ENSMUSG00000052485

Gene Name

transmembrane protein 171

Synonyms

LOC380863

MMRRC Submission

038572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98822743-98831342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98828736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 138 (D138V)

Ref Sequence

ENSEMBL: ENSMUSP00000070369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064347] [ENSMUST00000148950]

AlphaFold

Q4KL18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064347
AA Change: D138V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070369
Gene: ENSMUSG00000052485
AA Change: D138V

Domain	Start	End	E-Value	Type
Pfam:TMEM171	2	317	3e-168	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148950

SMART Domains

Protein: ENSMUSP00000121382
Gene: ENSMUSG00000052485

Domain	Start	End	E-Value	Type
Pfam:TMEM171	2	109	1e-57	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,724 (GRCm39)	S93*	probably null	Het
Ackr2	T	C	9: 121,738,426 (GRCm39)	L267P	probably damaging	Het
Adgre4	T	A	17: 56,099,001 (GRCm39)	L169*	probably null	Het
Ankrd12	T	A	17: 66,291,501 (GRCm39)	S1311C	possibly damaging	Het
Arid2	T	A	15: 96,259,601 (GRCm39)		probably benign	Het
Atp9b	A	T	18: 80,805,317 (GRCm39)	V747E	probably damaging	Het
Best1	T	C	19: 9,969,417 (GRCm39)		probably null	Het
Brwd1	C	A	16: 95,839,164 (GRCm39)	E836*	probably null	Het
Cachd1	A	G	4: 100,851,934 (GRCm39)	S1177G	possibly damaging	Het
Cacna1e	C	T	1: 154,291,884 (GRCm39)	E1766K	probably benign	Het
Cckar	A	G	5: 53,857,507 (GRCm39)	I301T	probably benign	Het
Cdc27	T	G	11: 104,396,474 (GRCm39)	T816P	probably damaging	Het
Cep162	T	G	9: 87,102,537 (GRCm39)	Q708H	probably damaging	Het
Cep250	C	A	2: 155,830,321 (GRCm39)	D1301E	probably benign	Het
D430041D05Rik	G	A	2: 104,085,685 (GRCm39)	H955Y	probably damaging	Het
Dcdc2a	T	A	13: 25,240,417 (GRCm39)	V55E	probably damaging	Het
Efcab12	A	G	6: 115,800,209 (GRCm39)		probably benign	Het
Ep400	A	G	5: 110,849,537 (GRCm39)	V1428A	unknown	Het
Erbb3	T	C	10: 128,408,439 (GRCm39)	E825G	possibly damaging	Het
Evl	A	T	12: 108,652,307 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,381,507 (GRCm39)	R140H	probably benign	Het
Gm5581	T	C	6: 131,143,410 (GRCm39)		noncoding transcript	Het
Gm7052	T	C	17: 22,259,498 (GRCm39)		probably benign	Het
Gpd1	T	G	15: 99,617,151 (GRCm39)	I119S	probably damaging	Het
Gzmc	A	T	14: 56,470,193 (GRCm39)	Y101*	probably null	Het
Hmcn2	G	T	2: 31,314,218 (GRCm39)	A3588S	possibly damaging	Het
Ikbkb	A	G	8: 23,185,276 (GRCm39)		probably benign	Het
Itgax	G	T	7: 127,748,261 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,428,717 (GRCm39)	S81I	possibly damaging	Het
Lct	G	A	1: 128,214,199 (GRCm39)	P1858S	probably benign	Het
Map2k1	C	A	9: 64,100,984 (GRCm39)		probably null	Het
Mdga1	A	G	17: 30,076,682 (GRCm39)	V30A	possibly damaging	Het
Meiosin	T	A	7: 18,840,964 (GRCm39)	I57F	probably damaging	Het
Mtcl1	G	A	17: 66,645,124 (GRCm39)	P1441L	probably damaging	Het
N4bp2	T	A	5: 65,963,739 (GRCm39)	F596Y	possibly damaging	Het
Notch4	A	T	17: 34,800,473 (GRCm39)		probably benign	Het
Or2l5	A	G	16: 19,333,598 (GRCm39)	S263P	probably benign	Het
Or4c12	A	C	2: 89,774,162 (GRCm39)	V99G	possibly damaging	Het
Or6c1	A	G	10: 129,517,840 (GRCm39)	M256T	possibly damaging	Het
Or8b44	T	A	9: 38,410,450 (GRCm39)	C162S	possibly damaging	Het
Or8k25	A	G	2: 86,244,369 (GRCm39)	V9A	possibly damaging	Het
Pbld2	A	G	10: 62,889,736 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,808,460 (GRCm39)	Y505C	probably damaging	Het
Plcb2	A	G	2: 118,554,928 (GRCm39)	F58L	probably benign	Het
Plcd1	T	A	9: 118,910,204 (GRCm39)	I72F	probably damaging	Het
Ppp5c	A	T	7: 16,756,508 (GRCm39)	Y63*	probably null	Het
Prdm4	T	C	10: 85,743,868 (GRCm39)	D129G	probably damaging	Het
Prkcq	C	A	2: 11,251,649 (GRCm39)		probably benign	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rab7b	T	A	1: 131,626,242 (GRCm39)	V90D	probably damaging	Het
Ripk3	T	C	14: 56,024,292 (GRCm39)	T193A	probably damaging	Het
Rnf167	C	T	11: 70,540,143 (GRCm39)	R88*	probably null	Het
Robo1	A	G	16: 72,539,133 (GRCm39)	T59A	possibly damaging	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Scg3	T	A	9: 75,582,620 (GRCm39)		probably benign	Het
Sec31a	A	T	5: 100,530,625 (GRCm39)	L677H	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,457,741 (GRCm39)	T29A	probably benign	Het
Shoc1	A	C	4: 59,099,410 (GRCm39)	M94R	probably benign	Het
Slc4a5	A	G	6: 83,272,854 (GRCm39)	Y942C	probably benign	Het
Slit1	T	A	19: 41,599,470 (GRCm39)	Y1027F	probably damaging	Het
Sptan1	G	A	2: 29,882,764 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,208,227 (GRCm39)	Q249R	probably benign	Het
Ttll10	G	A	4: 156,119,612 (GRCm39)	R596W	probably damaging	Het
Usp53	G	T	3: 122,742,850 (GRCm39)	N695K	probably damaging	Het
Vmn2r25	A	T	6: 123,800,581 (GRCm39)	L587*	probably null	Het
Zglp1	C	T	9: 20,974,675 (GRCm39)	C171Y	probably benign	Het

Other mutations in Tmem171

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00756:Tmem171	APN	13	98,822,934 (GRCm39)	missense	probably benign
IGL01024:Tmem171	APN	13	98,823,026 (GRCm39)	critical splice acceptor site	probably null
IGL01584:Tmem171	APN	13	98,828,683 (GRCm39)	splice site	probably null
G1patch:Tmem171	UTSW	13	98,828,678 (GRCm39)	nonsense	probably null
R0380:Tmem171	UTSW	13	98,828,535 (GRCm39)	missense	possibly damaging	0.75
R1903:Tmem171	UTSW	13	98,822,924 (GRCm39)	nonsense	probably null
R2023:Tmem171	UTSW	13	98,828,733 (GRCm39)	missense	probably damaging	0.97
R2102:Tmem171	UTSW	13	98,828,851 (GRCm39)	missense	probably damaging	1.00
R4090:Tmem171	UTSW	13	98,829,096 (GRCm39)	missense	probably damaging	0.99
R4941:Tmem171	UTSW	13	98,828,803 (GRCm39)	missense	possibly damaging	0.92
R5341:Tmem171	UTSW	13	98,824,956 (GRCm39)	missense	probably damaging	1.00
R5654:Tmem171	UTSW	13	98,828,574 (GRCm39)	missense	probably benign	0.12
R5741:Tmem171	UTSW	13	98,828,559 (GRCm39)	missense	probably benign
R5761:Tmem171	UTSW	13	98,829,019 (GRCm39)	missense	probably damaging	1.00
R6725:Tmem171	UTSW	13	98,828,678 (GRCm39)	nonsense	probably null
R6947:Tmem171	UTSW	13	98,824,950 (GRCm39)	missense	possibly damaging	0.92
R6981:Tmem171	UTSW	13	98,828,976 (GRCm39)	missense	possibly damaging	0.92
R7171:Tmem171	UTSW	13	98,828,744 (GRCm39)	nonsense	probably null
R7229:Tmem171	UTSW	13	98,829,133 (GRCm39)	missense	probably benign	0.23
R7447:Tmem171	UTSW	13	98,824,862 (GRCm39)	missense	probably benign	0.01
R8418:Tmem171	UTSW	13	98,828,740 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACCTACAGTGATGTGGACAGGCTC -3'
(R):5'- GCAGCATAGTGCTGAAGATTGCTGG -3'

Sequencing Primer
(F):5'- GTCCACCTTCGACCTCAGAG -3'
(R):5'- AAGATTGCTGGGCCTTCG -3'

Posted On

2013-05-09