Mutagenetix > Incidental Mutation

Incidental Mutation 'R8303:Tmem143'

639319

Institutional Source

Beutler Lab

Gene Symbol

Tmem143

Ensembl Gene

ENSMUSG00000002781

Gene Name

transmembrane protein 143

Synonyms

2310076O21Rik

MMRRC Submission

067715-MU

Accession Numbers

Essential gene?

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

Stock #

R8303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45546403-45566837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45565994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 439 (M439K)

Ref Sequence

ENSEMBL: ENSMUSP00000070405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038876] [ENSMUST00000069772] [ENSMUST00000164119] [ENSMUST00000209350] [ENSMUST00000210297] [ENSMUST00000210939]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038876

SMART Domains

Protein: ENSMUSP00000037289
Gene: ENSMUSG00000040212

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	156	7.2e-47	PFAM
Pfam:Claudin_2	13	158	8.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069772
AA Change: M439K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000070405
Gene: ENSMUSG00000002781
AA Change: M439K

Domain	Start	End	E-Value	Type
Pfam:DUF3754	182	349	3.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164119

SMART Domains

Protein: ENSMUSP00000132519
Gene: ENSMUSG00000040212

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	156	7.2e-47	PFAM
Pfam:Claudin_2	13	158	8.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209292

Predicted Effect

probably benign
Transcript: ENSMUST00000209350
AA Change: M434K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000210297

Predicted Effect

probably benign
Transcript: ENSMUST00000210939

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,770,966 (GRCm39)	D149E	probably benign	Het
Aars2	T	C	17: 45,818,523 (GRCm39)	C103R	probably damaging	Het
Aass	T	C	6: 23,092,367 (GRCm39)	D591G	probably benign	Het
Arhgap32	A	G	9: 32,172,205 (GRCm39)	T1662A	probably benign	Het
Arhgap42	A	T	9: 9,009,327 (GRCm39)	I520N	probably damaging	Het
Arhgef3	T	C	14: 27,116,095 (GRCm39)	I279T	probably damaging	Het
Arid4b	A	G	13: 14,294,808 (GRCm39)	K30R	probably damaging	Het
Asxl3	C	T	18: 22,657,473 (GRCm39)	R1828W	probably benign	Het
Bid	T	C	6: 120,877,200 (GRCm39)	Y47C	probably benign	Het
Card6	T	C	15: 5,134,847 (GRCm39)	T119A	probably benign	Het
Cbr1	T	C	16: 93,406,905 (GRCm39)	I207T	probably damaging	Het
Cep135	T	C	5: 76,759,575 (GRCm39)	L443P	probably damaging	Het
Cfap251	T	A	5: 123,460,650 (GRCm39)	V1204E	probably damaging	Het
Cfap43	T	A	19: 47,754,274 (GRCm39)	R1017*	probably null	Het
Cfap52	T	A	11: 67,830,621 (GRCm39)	S280C	probably benign	Het
Cntnap5b	T	C	1: 100,069,022 (GRCm39)	F81L	probably damaging	Het
Cyp4a12a	A	G	4: 115,186,130 (GRCm39)	D430G	probably damaging	Het
Cyp4f37	G	A	17: 32,853,152 (GRCm39)		probably null	Het
Dclre1a	A	G	19: 56,531,121 (GRCm39)	S742P	probably damaging	Het
Ddx54	T	C	5: 120,759,855 (GRCm39)	F414S	probably damaging	Het
Dsp	A	G	13: 38,381,319 (GRCm39)	N2688S	probably benign	Het
Elovl4	A	T	9: 83,670,320 (GRCm39)		probably null	Het
Erbin	A	C	13: 103,966,694 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,818,724 (GRCm39)	D4819G	probably benign	Het
Gapvd1	G	A	2: 34,602,212 (GRCm39)	P645L	probably damaging	Het
Gbp9	T	C	5: 105,229,171 (GRCm39)	E492G	possibly damaging	Het
Gpc5	T	A	14: 115,665,667 (GRCm39)	I497K	probably benign	Het
Hlx	A	G	1: 184,459,905 (GRCm39)	L411P	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Ice1	A	T	13: 70,754,526 (GRCm39)	I520N	probably benign	Het
Ist1	T	C	8: 110,410,412 (GRCm39)		probably null	Het
Itga3	T	C	11: 94,953,466 (GRCm39)	D292G	probably benign	Het
Kif21a	T	C	15: 90,855,399 (GRCm39)	N655S	probably damaging	Het
Lrrtm1	A	G	6: 77,221,662 (GRCm39)	H373R	probably benign	Het
Ngdn	A	T	14: 55,260,602 (GRCm39)	H270L	probably benign	Het
Nol4	G	A	18: 23,173,231 (GRCm39)		probably benign	Het
Nup50l	T	C	6: 96,142,702 (GRCm39)	E114G	probably benign	Het
Nxpe5	G	A	5: 138,239,264 (GRCm39)		probably benign	Het
Or1j18	A	G	2: 36,624,467 (GRCm39)	I45V	probably damaging	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or8d1	A	C	9: 38,766,837 (GRCm39)	T160P	probably damaging	Het
Or8g30	A	C	9: 39,230,689 (GRCm39)	S74A	probably damaging	Het
Pask	C	A	1: 93,248,286 (GRCm39)	R1005L	probably benign	Het
Pcm1	A	G	8: 41,736,758 (GRCm39)	T875A	probably damaging	Het
Pdrg1	A	T	2: 152,851,587 (GRCm39)	I130N	probably damaging	Het
Plec	A	T	15: 76,073,466 (GRCm39)	M448K	unknown	Het
R3hdml	T	G	2: 163,341,832 (GRCm39)	V204G	probably damaging	Het
Rasa4	G	A	5: 136,118,235 (GRCm39)	V32M	possibly damaging	Het
Scaf8	T	C	17: 3,198,827 (GRCm39)	V44A	unknown	Het
Smad3	G	T	9: 63,574,760 (GRCm39)	P177T	probably benign	Het
Smpd4	T	A	16: 17,457,195 (GRCm39)	F384L	probably damaging	Het
Sycp2l	G	C	13: 41,283,275 (GRCm39)	L170F	probably damaging	Het
Tas2r107	T	C	6: 131,636,585 (GRCm39)	S155G	probably benign	Het
Ttc41	A	T	10: 86,555,494 (GRCm39)	T317S	probably benign	Het
Umps	A	G	16: 33,784,240 (GRCm39)	V71A	possibly damaging	Het
Usp17lc	G	A	7: 103,067,389 (GRCm39)	G228D	possibly damaging	Het
Usp17ld	C	T	7: 102,900,023 (GRCm39)	C303Y	probably damaging	Het
Vmn2r65	C	A	7: 84,589,391 (GRCm39)	E842*	probably null	Het
Vmn2r94	A	G	17: 18,464,433 (GRCm39)	F619S	probably damaging	Het
Vps13a	T	C	19: 16,594,270 (GRCm39)	T3154A	probably benign	Het
Vps13b	C	T	15: 35,640,063 (GRCm39)	T1311I	probably damaging	Het
Xpot	A	T	10: 121,447,405 (GRCm39)	Y353*	probably null	Het
Zfp319	A	T	8: 96,055,765 (GRCm39)	L146Q	probably damaging	Het
Zfp422	T	A	6: 116,603,612 (GRCm39)	H129L	probably damaging	Het
Zzef1	T	C	11: 72,808,015 (GRCm39)	F2709L	probably damaging	Het

Other mutations in Tmem143

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Tmem143	APN	7	45,565,558 (GRCm39)	missense	probably damaging	1.00
R0137:Tmem143	UTSW	7	45,547,086 (GRCm39)	missense	probably benign	0.04
R0587:Tmem143	UTSW	7	45,556,478 (GRCm39)	missense	probably damaging	1.00
R1450:Tmem143	UTSW	7	45,556,532 (GRCm39)	missense	probably damaging	1.00
R1730:Tmem143	UTSW	7	45,556,426 (GRCm39)	missense	possibly damaging	0.87
R1783:Tmem143	UTSW	7	45,556,426 (GRCm39)	missense	possibly damaging	0.87
R1807:Tmem143	UTSW	7	45,547,037 (GRCm39)	missense	probably damaging	0.99
R1874:Tmem143	UTSW	7	45,565,988 (GRCm39)	missense	possibly damaging	0.68
R4460:Tmem143	UTSW	7	45,556,376 (GRCm39)	missense	probably damaging	0.99
R6090:Tmem143	UTSW	7	45,558,950 (GRCm39)	missense	probably benign	0.25
R7130:Tmem143	UTSW	7	45,558,901 (GRCm39)	missense	possibly damaging	0.81
R7267:Tmem143	UTSW	7	45,557,598 (GRCm39)	missense	probably benign	0.05
R8292:Tmem143	UTSW	7	45,558,964 (GRCm39)	missense	probably damaging	0.96
R9135:Tmem143	UTSW	7	45,546,802 (GRCm39)	intron	probably benign
R9508:Tmem143	UTSW	7	45,565,630 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTCTAGCTACAACGTGGACAC -3'
(R):5'- AGCAAAATTAATGGCCTAGCAG -3'

Sequencing Primer
(F):5'- TAGCTACAACGTGGACACTGTCTC -3'
(R):5'- GGCCTAGCAGAAATAATAGCCTGTC -3'

Posted On

2020-07-28