Mutagenetix > Incidental Mutation

Incidental Mutation 'R8292:Tmem143'

638739

Institutional Source

Beutler Lab

Gene Symbol

Tmem143

Ensembl Gene

ENSMUSG00000002781

Gene Name

transmembrane protein 143

Synonyms

2310076O21Rik

MMRRC Submission

067782-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8292 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45546403-45566837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45558964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 302 (K302R)

Ref Sequence

ENSEMBL: ENSMUSP00000070405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069772] [ENSMUST00000209350] [ENSMUST00000210503]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069772
AA Change: K302R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070405
Gene: ENSMUSG00000002781
AA Change: K302R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209292

Predicted Effect

probably damaging
Transcript: ENSMUST00000209350
AA Change: K297R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000210503

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,338,555 (GRCm39)		probably null	Het
Akirin2	T	C	4: 34,566,007 (GRCm39)		probably null	Het
Akr1c14	A	G	13: 4,130,995 (GRCm39)	D229G	possibly damaging	Het
Arfgef1	T	C	1: 10,227,194 (GRCm39)	I1382V	probably benign	Het
Bcas3	C	A	11: 85,348,729 (GRCm39)	A207D	probably damaging	Het
Bcl2l10	T	C	9: 75,255,160 (GRCm39)		probably benign	Het
Cdc42	T	C	4: 137,063,384 (GRCm39)	T3A	probably benign	Het
Celsr1	C	A	15: 85,791,819 (GRCm39)	W2594L	possibly damaging	Het
Chrna6	A	T	8: 27,896,754 (GRCm39)	H374Q	probably benign	Het
Cibar1	T	G	4: 12,153,963 (GRCm39)	T330P	possibly damaging	Het
Clcnka	G	A	4: 141,125,272 (GRCm39)	R30*	probably null	Het
Clptm1l	A	T	13: 73,765,854 (GRCm39)	H464L	probably damaging	Het
Col6a4	A	T	9: 105,954,076 (GRCm39)	M421K	probably benign	Het
Crybg2	T	C	4: 133,802,842 (GRCm39)	S873P	probably damaging	Het
Dixdc1	A	G	9: 50,621,989 (GRCm39)	V114A	probably benign	Het
Etv6	T	C	6: 134,225,509 (GRCm39)	C247R	probably benign	Het
Farp2	T	C	1: 93,456,350 (GRCm39)	L11S	probably damaging	Het
Gbp2	G	A	3: 142,329,584 (GRCm39)	V44M	probably damaging	Het
Get4	A	G	5: 139,248,686 (GRCm39)	D99G	probably null	Het
Glcci1	G	A	6: 8,558,549 (GRCm39)	R212H	probably damaging	Het
Gm14295	T	A	2: 176,501,351 (GRCm39)	F280L	probably damaging	Het
Gm5407	T	A	16: 49,117,550 (GRCm39)	N70Y	noncoding transcript	Het
Hace1	C	G	10: 45,587,557 (GRCm39)	Y885*	probably null	Het
Hectd4	G	A	5: 121,455,288 (GRCm39)	R644Q	possibly damaging	Het
Impg2	A	T	16: 56,080,989 (GRCm39)	E931V	probably damaging	Het
Kif5c	A	T	2: 49,625,497 (GRCm39)	Y589F	probably benign	Het
Krr1	T	A	10: 111,813,021 (GRCm39)	V132E	possibly damaging	Het
Luzp1	T	G	4: 136,269,764 (GRCm39)	D662E	probably benign	Het
Mc4r	A	T	18: 66,993,082 (GRCm39)	Y10*	probably null	Het
Mfng	T	C	15: 78,657,370 (GRCm39)	I35V	probably benign	Het
Mprip	T	A	11: 59,650,340 (GRCm39)	I1348K	probably benign	Het
Mrgprb3	G	T	7: 48,293,255 (GRCm39)	Q99K	probably benign	Het
Mrgprb4	A	T	7: 47,848,554 (GRCm39)	S125T	probably damaging	Het
Mrgprg	A	T	7: 143,318,656 (GRCm39)	M152K	probably benign	Het
Muc5ac	A	C	7: 141,363,000 (GRCm39)	I2104L	unknown	Het
Myom2	A	G	8: 15,182,888 (GRCm39)	I1442V	probably benign	Het
Nell1	T	C	7: 49,907,995 (GRCm39)	C385R	probably damaging	Het
Nid2	T	G	14: 19,818,346 (GRCm39)	V280G	probably damaging	Het
Npr2	T	A	4: 43,643,086 (GRCm39)	M490K	possibly damaging	Het
Prr12	A	G	7: 44,684,112 (GRCm39)	F1643L	probably damaging	Het
Psg16	G	A	7: 16,827,701 (GRCm39)	G128D	probably damaging	Het
Racgap1	A	T	15: 99,520,127 (GRCm39)	L595*	probably null	Het
Rbbp8	T	C	18: 11,838,769 (GRCm39)	V150A	probably benign	Het
Rbbp9	T	C	2: 144,390,017 (GRCm39)	T49A	probably benign	Het
Rbm20	C	A	19: 53,839,930 (GRCm39)	T973K	possibly damaging	Het
Robo1	A	T	16: 72,769,420 (GRCm39)	I582F	possibly damaging	Het
Rps6ka5	A	T	12: 100,644,791 (GRCm39)	V53D	possibly damaging	Het
Slc35f6	G	T	5: 30,813,375 (GRCm39)	V156L	probably benign	Het
Smpd3	T	C	8: 106,991,422 (GRCm39)	H377R	probably benign	Het
Son	G	A	16: 91,453,545 (GRCm39)	S764N	possibly damaging	Het
Srgn	A	T	10: 62,343,447 (GRCm39)	V16D	possibly damaging	Het
Tex14	G	A	11: 87,388,664 (GRCm39)	R297Q	probably damaging	Het
Tiam2	T	C	17: 3,557,142 (GRCm39)	V1194A	probably benign	Het
Tlr6	A	C	5: 65,111,134 (GRCm39)	L591R	probably damaging	Het
Ttc28	A	G	5: 111,371,123 (GRCm39)	Y555C	probably damaging	Het
Usp32	T	A	11: 84,968,227 (GRCm39)	K145N	probably damaging	Het
Zbtb40	T	C	4: 136,726,878 (GRCm39)	Y486C	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
R8303:Tmem143	UTSW	7	45,565,994 (GRCm39)	missense	probably benign	0.00
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'- ACCTGGTCCTGAAGAGCTTC -3'
(R):5'- CGTTCTGAAAGATGCCAGTG -3'

Sequencing Primer
(F):5'- TGAAGAGCTTCAAGGATACCCCG -3'
(R):5'- AGAGTGAGAGCCCTGTCG -3'

Posted On

2020-07-28