Mutagenetix > Incidental Mutation

Incidental Mutation 'R1430:Tmem241'

161508

Institutional Source

Beutler Lab

Gene Symbol

Tmem241

Ensembl Gene

ENSMUSG00000049411

Gene Name

transmembrane protein 241

Synonyms

6030446N20Rik

MMRRC Submission

039486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1430 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

12113193-12254604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12126651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 144 (D144G)

Ref Sequence

ENSEMBL: ENSMUSP00000148000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050228] [ENSMUST00000055447] [ENSMUST00000209628] [ENSMUST00000209859] [ENSMUST00000211298]

AlphaFold

Q3UME2

Predicted Effect

probably benign
Transcript: ENSMUST00000050228

SMART Domains

Protein: ENSMUSP00000062148
Gene: ENSMUSG00000049411

Domain	Start	End	E-Value	Type
transmembrane domain	119	136	N/A	INTRINSIC
transmembrane domain	200	217	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055447
AA Change: D267G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000052001
Gene: ENSMUSG00000049411
AA Change: D267G

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
transmembrane domain	121	140	N/A	INTRINSIC
transmembrane domain	150	167	N/A	INTRINSIC
transmembrane domain	184	201	N/A	INTRINSIC
transmembrane domain	214	236	N/A	INTRINSIC
transmembrane domain	248	270	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209628
AA Change: D144G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000209859
AA Change: D267G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000211298

Meta Mutation Damage Score

0.2386

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,204,287 (GRCm39)		probably benign	Het
Aoc2	A	G	11: 101,217,321 (GRCm39)	Y468C	probably damaging	Het
Cdyl2	A	G	8: 117,306,056 (GRCm39)		probably benign	Het
Cfh	A	G	1: 140,030,436 (GRCm39)		probably benign	Het
Cyp2j9	G	T	4: 96,472,201 (GRCm39)		probably benign	Het
Dapk1	T	G	13: 60,901,957 (GRCm39)	F929V	probably benign	Het
Dhx9	A	T	1: 153,359,493 (GRCm39)	M35K	probably benign	Het
Dnah5	G	A	15: 28,346,003 (GRCm39)	E2448K	probably benign	Het
Doc2b	A	T	11: 75,670,981 (GRCm39)	C217S	possibly damaging	Het
Dock11	A	G	X: 35,333,565 (GRCm39)	I2010V	probably benign	Het
Dram1	T	C	10: 88,160,641 (GRCm39)	T227A	possibly damaging	Het
Eppin	G	A	2: 164,431,323 (GRCm39)	T101M	probably damaging	Het
F13a1	T	C	13: 37,082,105 (GRCm39)	D533G	probably damaging	Het
Fmo1	C	A	1: 162,667,293 (GRCm39)	R174L	probably damaging	Het
Fsip2	C	A	2: 82,828,407 (GRCm39)	L6735I	possibly damaging	Het
Gab1	G	T	8: 81,515,241 (GRCm39)	T359K	probably benign	Het
Ggta1	T	C	2: 35,298,029 (GRCm39)	D118G	possibly damaging	Het
Gramd1a	A	G	7: 30,832,211 (GRCm39)	S609P	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrrc24	G	T	15: 76,607,992 (GRCm39)		probably null	Het
Mak	C	A	13: 41,223,760 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,063,768 (GRCm39)	R2708Q	possibly damaging	Het
Mettl24	T	C	10: 40,613,791 (GRCm39)	C177R	probably damaging	Het
Mgam	G	C	6: 40,733,305 (GRCm39)	E812D	probably benign	Het
Mroh8	T	C	2: 157,111,445 (GRCm39)	R170G	possibly damaging	Het
Msn	G	A	X: 95,196,325 (GRCm39)	V130I	probably benign	Het
Ncoa4	G	A	14: 31,898,679 (GRCm39)	V500I	probably benign	Het
Or2aj5	A	G	16: 19,424,752 (GRCm39)	L222P	probably damaging	Het
Or2y1b	A	G	11: 49,208,928 (GRCm39)		probably null	Het
Or5an6	C	T	19: 12,371,801 (GRCm39)	T58I	probably benign	Het
Or8k3b	T	C	2: 86,520,866 (GRCm39)	Y151C	possibly damaging	Het
Ppm1h	T	C	10: 122,693,004 (GRCm39)	S302P	probably damaging	Het
Prkce	T	A	17: 86,866,565 (GRCm39)		probably benign	Het
Psenen	T	C	7: 30,261,815 (GRCm39)	I34V	probably benign	Het
Rbl1	T	C	2: 157,011,826 (GRCm39)	T710A	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc1a5	A	G	7: 16,516,328 (GRCm39)	D168G	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Syce1	A	T	7: 140,359,351 (GRCm39)		probably benign	Het
Tbc1d23	G	T	16: 57,034,573 (GRCm39)	D75E	probably damaging	Het
Tbk1	A	G	10: 121,395,839 (GRCm39)	V418A	probably benign	Het
Tmem132e	T	C	11: 82,329,122 (GRCm39)	V467A	probably damaging	Het
Tsc2	A	G	17: 24,817,997 (GRCm39)		probably null	Het
Ubxn4	T	A	1: 128,202,617 (GRCm39)	F420I	probably benign	Het
Usp34	A	G	11: 23,409,151 (GRCm39)	T2645A	probably damaging	Het
Utp14b	A	G	1: 78,644,111 (GRCm39)	K670E	probably benign	Het
Zfp407	C	T	18: 84,227,580 (GRCm39)	V2010M	probably benign	Het
Zfp879	A	G	11: 50,724,784 (GRCm39)	F91L	probably benign	Het
Zfyve26	A	G	12: 79,329,591 (GRCm39)	S532P	probably benign	Het

Other mutations in Tmem241

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02256:Tmem241	APN	18	12,246,489 (GRCm39)	missense	probably damaging	1.00
R0106:Tmem241	UTSW	18	12,239,066 (GRCm39)	intron	probably benign
R1203:Tmem241	UTSW	18	12,217,035 (GRCm39)	splice site	probably benign
R1218:Tmem241	UTSW	18	12,197,271 (GRCm39)	missense	probably damaging	1.00
R1304:Tmem241	UTSW	18	12,203,135 (GRCm39)	critical splice donor site	probably null
R1416:Tmem241	UTSW	18	12,126,631 (GRCm39)	missense	probably benign	0.00
R1539:Tmem241	UTSW	18	12,176,297 (GRCm39)	missense	possibly damaging	0.92
R1729:Tmem241	UTSW	18	12,201,369 (GRCm39)	missense	probably damaging	0.99
R1775:Tmem241	UTSW	18	12,251,469 (GRCm39)	missense	probably damaging	1.00
R3813:Tmem241	UTSW	18	12,200,167 (GRCm39)	splice site	probably benign
R4352:Tmem241	UTSW	18	12,246,496 (GRCm39)	missense	probably benign	0.35
R4903:Tmem241	UTSW	18	12,237,176 (GRCm39)	missense	probably damaging	1.00
R4966:Tmem241	UTSW	18	12,237,176 (GRCm39)	missense	probably damaging	1.00
R5490:Tmem241	UTSW	18	12,176,320 (GRCm39)	missense	probably benign	0.00
R5704:Tmem241	UTSW	18	12,197,263 (GRCm39)	missense	probably damaging	1.00
R6943:Tmem241	UTSW	18	12,180,641 (GRCm39)	missense	possibly damaging	0.92
R7037:Tmem241	UTSW	18	12,246,463 (GRCm39)	missense	probably benign	0.02
R7209:Tmem241	UTSW	18	12,237,229 (GRCm39)	missense	probably damaging	0.97
R8698:Tmem241	UTSW	18	12,197,288 (GRCm39)	missense	possibly damaging	0.93
R9562:Tmem241	UTSW	18	12,176,356 (GRCm39)	nonsense	probably null
RF013:Tmem241	UTSW	18	12,116,618 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTGCCTGGGACACATGAAC -3'
(R):5'- AGCACACTGCGTTAGCACAGTC -3'

Sequencing Primer
(F):5'- TGGGACACATGAACCATTAAAGTC -3'
(R):5'- AGCACAGTCTCTTATTTGGGCAG -3'

Posted On

2014-03-14