Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Tmem57'

550756

Institutional Source

Beutler Lab

Gene Symbol

Tmem57

Ensembl Gene

ENSMUSG00000028826

Gene Name

transmembrane protein 57

Synonyms

1110007C24Rik, C61, 9230118A01Rik

MMRRC Submission

045192-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.698) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134802759-134853345 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134806660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 550 (D550G)

Ref Sequence

ENSEMBL: ENSMUSP00000030628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030628] [ENSMUST00000137707]

AlphaFold

Q7TQE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030628
AA Change: D550G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030628
Gene: ENSMUSG00000028826
AA Change: D550G

Domain	Start	End	E-Value	Type
Pfam:Macoilin	2	662	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137707

SMART Domains

Protein: ENSMUSP00000124477
Gene: ENSMUSG00000028826

Domain	Start	End	E-Value	Type
Pfam:Macoilin	2	157	2.1e-112	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150031

Meta Mutation Damage Score

0.4940

Coding Region Coverage

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

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,552,395 (GRCm38)	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,270,897 (GRCm38)	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,537,074 (GRCm38)		probably null	Het
Amph	T	C	13: 19,149,841 (GRCm38)	*691Q	probably null	Het
Ankrd55	A	G	13: 112,356,110 (GRCm38)	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,516,815 (GRCm38)	V838I	possibly damaging	Het
Arl2	C	A	19: 6,134,744 (GRCm38)	V160F	probably benign	Het
BC067074	T	A	13: 113,318,967 (GRCm38)	F516I		Het
Catsperb	T	C	12: 101,446,038 (GRCm38)	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,625,593 (GRCm38)	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,596,114 (GRCm38)	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 132,054,815 (GRCm38)	A573T	probably benign	Het
Daxx	T	C	17: 33,911,442 (GRCm38)	S144P	probably damaging	Het
Dpp3	T	C	19: 4,918,041 (GRCm38)	D303G	probably damaging	Het
Fam126b	T	A	1: 58,534,494 (GRCm38)	T384S	possibly damaging	Het
Fam181a	T	A	12: 103,315,873 (GRCm38)	N12K	probably damaging	Het
Flg2	A	T	3: 93,203,711 (GRCm38)	R1015S	unknown	Het
Fstl5	A	G	3: 76,536,293 (GRCm38)	H315R	probably benign	Het
Fut4	A	G	9: 14,751,393 (GRCm38)	S202P	probably damaging	Het
Gm5114	T	C	7: 39,408,284 (GRCm38)	D637G	possibly damaging	Het
Gstcd	G	T	3: 133,084,943 (GRCm38)	T21K	probably benign	Het
Heca	C	T	10: 17,915,373 (GRCm38)	V312M	probably benign	Het
Herpud1	A	G	8: 94,390,847 (GRCm38)	R144G	probably damaging	Het
Hrasls5	T	A	19: 7,639,558 (GRCm38)	F313I	unknown	Het
Ino80	A	G	2: 119,374,513 (GRCm38)	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 126,591,733 (GRCm38)	T365A	probably benign	Het
Klk1	G	A	7: 44,229,424 (GRCm38)	G214E	probably damaging	Het
Lama3	A	T	18: 12,582,644 (GRCm38)	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,484,990 (GRCm38)	I365T	probably damaging	Het
Lrp8	C	A	4: 107,802,450 (GRCm38)	A13E	possibly damaging	Het
Ly75	A	G	2: 60,306,434 (GRCm38)	L1483P	probably benign	Het
Mid1	A	G	X: 169,985,077 (GRCm38)	D407G	probably benign	Het
Mpl	G	T	4: 118,457,410 (GRCm38)	A21E		Het
Mus81	C	T	19: 5,484,211 (GRCm38)	G360S	probably damaging	Het
Nmt2	T	A	2: 3,312,913 (GRCm38)	S250T	probably benign	Het
Nr1d1	C	A	11: 98,771,334 (GRCm38)	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,050,714 (GRCm38)	P36S	unknown	Het
Pcnx2	G	A	8: 125,759,114 (GRCm38)	A1915V	probably benign	Het
Peak1	A	G	9: 56,259,393 (GRCm38)	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,604,840 (GRCm38)	N262S	probably benign	Het
Ppp2r5d	A	G	17: 46,685,682 (GRCm38)	V355A	probably benign	Het
Rasa3	T	C	8: 13,586,897 (GRCm38)	T395A	probably benign	Het
Rims1	T	A	1: 22,346,473 (GRCm38)	I432F	probably benign	Het
Rnf123	C	T	9: 108,056,639 (GRCm38)	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,238,311 (GRCm38)		probably benign	Het
Shank2	T	A	7: 144,411,164 (GRCm38)	D836E	possibly damaging	Het
Slc24a5	A	C	2: 125,080,671 (GRCm38)	S118R	probably damaging	Het
Smg1	G	T	7: 118,184,520 (GRCm38)	H1048N	unknown	Het
Specc1l	T	G	10: 75,245,495 (GRCm38)	S242A	probably benign	Het
Tagap1	A	T	17: 6,956,712 (GRCm38)	L195Q	possibly damaging	Het
Trpc3	C	A	3: 36,650,067 (GRCm38)	E580D	probably benign	Het
Ttn	A	T	2: 76,710,822 (GRCm38)	V33940E	probably benign	Het
Upp2	G	T	2: 58,791,805 (GRCm38)	R318L	probably benign	Het
Vezt	T	A	10: 93,996,933 (GRCm38)	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,866,110 (GRCm38)	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,581,586 (GRCm38)	E769*	probably null	Het
Vnn3	T	C	10: 23,865,942 (GRCm38)	Y382H	probably damaging	Het

Other mutations in Tmem57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Tmem57	APN	4	134,828,206 (GRCm38)	missense	probably damaging	0.96
IGL01062:Tmem57	APN	4	134,833,297 (GRCm38)	missense	probably damaging	0.97
IGL02249:Tmem57	APN	4	134,828,312 (GRCm38)	missense	possibly damaging	0.50
IGL02850:Tmem57	APN	4	134,828,386 (GRCm38)	missense	probably benign	0.12
subtle	UTSW	4	134,828,299 (GRCm38)	missense	probably damaging	1.00
R0400:Tmem57	UTSW	4	134,828,116 (GRCm38)	missense	probably benign	0.25
R0548:Tmem57	UTSW	4	134,806,660 (GRCm38)	missense	probably damaging	1.00
R0589:Tmem57	UTSW	4	134,828,217 (GRCm38)	missense	probably benign	0.30
R1536:Tmem57	UTSW	4	134,804,507 (GRCm38)	missense	probably damaging	1.00
R2063:Tmem57	UTSW	4	134,828,279 (GRCm38)	missense	possibly damaging	0.95
R2151:Tmem57	UTSW	4	134,811,223 (GRCm38)	missense	probably benign	0.00
R2509:Tmem57	UTSW	4	134,804,388 (GRCm38)	missense	probably damaging	1.00
R2510:Tmem57	UTSW	4	134,804,388 (GRCm38)	missense	probably damaging	1.00
R2511:Tmem57	UTSW	4	134,804,388 (GRCm38)	missense	probably damaging	1.00
R3806:Tmem57	UTSW	4	134,830,580 (GRCm38)	missense	probably benign	0.00
R3946:Tmem57	UTSW	4	134,804,481 (GRCm38)	missense	probably damaging	1.00
R4994:Tmem57	UTSW	4	134,828,299 (GRCm38)	missense	probably damaging	1.00
R4999:Tmem57	UTSW	4	134,828,133 (GRCm38)	missense	probably benign	0.23
R5169:Tmem57	UTSW	4	134,828,463 (GRCm38)	missense	probably benign	0.23
R5310:Tmem57	UTSW	4	134,837,019 (GRCm38)	intron	probably benign
R5443:Tmem57	UTSW	4	134,833,308 (GRCm38)	nonsense	probably null
R5554:Tmem57	UTSW	4	134,828,134 (GRCm38)	missense	probably benign
R5712:Tmem57	UTSW	4	134,828,058 (GRCm38)	missense	probably benign	0.06
R6627:Tmem57	UTSW	4	134,836,343 (GRCm38)	missense	probably damaging	0.98
R7448:Tmem57	UTSW	4	134,828,279 (GRCm38)	missense	possibly damaging	0.95
R8059:Tmem57	UTSW	4	134,828,048 (GRCm38)	nonsense	probably null
R8300:Tmem57	UTSW	4	134,828,451 (GRCm38)	missense	probably benign
R9246:Tmem57	UTSW	4	134,837,931 (GRCm38)	missense	possibly damaging	0.50
R9786:Tmem57	UTSW	4	134,830,682 (GRCm38)	nonsense	probably null
X0062:Tmem57	UTSW	4	134,836,347 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCGGTTCAGAGCTCTTGG -3'
(R):5'- AACACACAGGGTATCAGGATTC -3'

Sequencing Primer
(F):5'- GGGAGGTCCATTCCATGTATCAC -3'
(R):5'- AGGATTCTCTGTCCTAATGGCCAG -3'

Posted On

2019-05-15