Mutagenetix > Incidental Mutation

Incidental Mutation 'R5769:Tmem41b'

446438

Institutional Source

Beutler Lab

Gene Symbol

Tmem41b

Ensembl Gene

ENSMUSG00000047554

Gene Name

transmembrane protein 41B

Synonyms

1500031M19Rik, 1500015G02Rik, D7Ertd70e, D7Ertd743e

MMRRC Submission

043369-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R5769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109571394-109586136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109577945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 113 (T113I)

Ref Sequence

ENSEMBL: ENSMUSP00000113215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094097] [ENSMUST00000118429] [ENSMUST00000119929] [ENSMUST00000124821] [ENSMUST00000135565] [ENSMUST00000154831]

AlphaFold

Q8K1A5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094097
AA Change: T180I

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091641
Gene: ENSMUSG00000047554
AA Change: T180I

Domain	Start	End	E-Value	Type
transmembrane domain	53	72	N/A	INTRINSIC
Blast:uDENN	81	113	2e-13	BLAST
Pfam:SNARE_assoc	129	250	2.5e-26	PFAM
transmembrane domain	260	282	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118429
AA Change: T180I

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112574
Gene: ENSMUSG00000047554
AA Change: T180I

Domain	Start	End	E-Value	Type
transmembrane domain	53	72	N/A	INTRINSIC
Blast:uDENN	81	113	2e-13	BLAST
Pfam:SNARE_assoc	129	250	1.2e-24	PFAM
transmembrane domain	260	282	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119929
AA Change: T113I

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113215
Gene: ENSMUSG00000047554
AA Change: T113I

Domain	Start	End	E-Value	Type
Blast:uDENN	13	48	4e-14	BLAST
Pfam:SNARE_assoc	62	183	6e-27	PFAM
transmembrane domain	193	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124821

SMART Domains

Protein: ENSMUSP00000119520
Gene: ENSMUSG00000047554

Domain	Start	End	E-Value	Type
transmembrane domain	53	72	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125703

Predicted Effect

probably benign
Transcript: ENSMUST00000135565

SMART Domains

Protein: ENSMUSP00000121078
Gene: ENSMUSG00000047554

Domain	Start	End	E-Value	Type
transmembrane domain	53	72	N/A	INTRINSIC
Blast:uDENN	81	113	7e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151587

Predicted Effect

probably benign
Transcript: ENSMUST00000154831

Meta Mutation Damage Score

0.2102

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,644,595 (GRCm39)	V160E	possibly damaging	Het
Abcb1a	A	C	5: 8,733,426 (GRCm39)	E106A	probably benign	Het
Acap3	A	T	4: 155,986,857 (GRCm39)	D371V	probably damaging	Het
Ahi1	T	C	10: 20,835,981 (GRCm39)		probably null	Het
Coq8a	A	G	1: 180,006,681 (GRCm39)	Y69H	probably damaging	Het
Defb33	T	A	8: 21,387,543 (GRCm39)	F27I	possibly damaging	Het
Dhx29	T	A	13: 113,090,251 (GRCm39)	L776Q	probably damaging	Het
Dnah3	G	A	7: 119,689,175 (GRCm39)	R80*	probably null	Het
Dtna	A	T	18: 23,784,611 (GRCm39)	D646V	probably benign	Het
Eml5	T	A	12: 98,756,878 (GRCm39)	D1964V	probably damaging	Het
Fbn2	A	T	18: 58,238,271 (GRCm39)	N575K	probably damaging	Het
Fbxo38	G	A	18: 62,648,036 (GRCm39)	P834L	probably benign	Het
Fyb2	G	T	4: 104,870,518 (GRCm39)	K706N	probably damaging	Het
Fyb2	T	A	4: 104,872,841 (GRCm39)	V738E	probably damaging	Het
Gcm1	A	G	9: 77,972,249 (GRCm39)	T397A	probably benign	Het
Gins1	A	T	2: 150,767,918 (GRCm39)	E149D	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Grin2a	C	T	16: 9,579,390 (GRCm39)	R291K	possibly damaging	Het
Hdac10	T	C	15: 89,007,819 (GRCm39)	M646V	probably benign	Het
Hes6	G	T	1: 91,340,671 (GRCm39)	R38S	probably damaging	Het
Hipk3	G	A	2: 104,265,298 (GRCm39)	P667S	possibly damaging	Het
Jrk	T	C	15: 74,577,917 (GRCm39)	Q456R	probably benign	Het
Klf18	A	C	4: 117,586,162 (GRCm39)		probably benign	Het
Loxl3	A	G	6: 83,027,581 (GRCm39)	T708A	probably damaging	Het
Lyg1	T	C	1: 37,989,831 (GRCm39)	S19G	unknown	Het
Magel2	T	A	7: 62,027,861 (GRCm39)	M255K	probably benign	Het
Mctp1	A	G	13: 76,907,927 (GRCm39)	D242G	probably damaging	Het
Med13	A	T	11: 86,236,829 (GRCm39)	N109K	probably benign	Het
Mms19	A	G	19: 41,952,825 (GRCm39)	F95L	probably damaging	Het
Nav1	A	G	1: 135,379,995 (GRCm39)	L1569P	probably damaging	Het
Nup188	A	G	2: 30,220,747 (GRCm39)	E940G	probably benign	Het
Oas1d	T	C	5: 121,054,917 (GRCm39)	F163S	probably benign	Het
Odf2l	A	G	3: 144,841,492 (GRCm39)	K304R	possibly damaging	Het
Otud3	T	A	4: 138,625,421 (GRCm39)	N211I	possibly damaging	Het
Pabpc6	A	T	17: 9,886,772 (GRCm39)	L593*	probably null	Het
Pdcd11	T	A	19: 47,091,076 (GRCm39)	L350Q	possibly damaging	Het
Pdia4	A	G	6: 47,792,446 (GRCm39)		probably benign	Het
Pik3cb	G	A	9: 98,975,212 (GRCm39)	Q223*	probably null	Het
Plb1	G	A	5: 32,474,866 (GRCm39)	V696M	probably benign	Het
Ppp2r5a	T	C	1: 191,104,863 (GRCm39)	D61G	probably benign	Het
Preb	G	T	5: 31,115,635 (GRCm39)	Y87*	probably null	Het
Rdh16f2	A	T	10: 127,712,758 (GRCm39)	N252I	probably benign	Het
Rida	T	C	15: 34,484,704 (GRCm39)		probably benign	Het
Rxrb	T	C	17: 34,251,821 (GRCm39)		probably benign	Het
Sis	T	A	3: 72,835,568 (GRCm39)	K931N	probably damaging	Het
Srcap	T	A	7: 127,158,994 (GRCm39)		probably benign	Het
Srp68	A	G	11: 116,137,495 (GRCm39)	S525P	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Synj1	A	G	16: 90,735,141 (GRCm39)		probably benign	Het
Syt12	T	C	19: 4,501,072 (GRCm39)	Y326C	probably damaging	Het
Tesk2	A	G	4: 116,659,512 (GRCm39)		probably null	Het
Tmtc2	T	C	10: 105,205,907 (GRCm39)	I463V	probably benign	Het
Trak1	A	T	9: 121,277,904 (GRCm39)	D320V	probably damaging	Het
Ushbp1	A	T	8: 71,838,863 (GRCm39)	N570K	probably benign	Het
Vmn1r33	T	A	6: 66,588,817 (GRCm39)	I246F	possibly damaging	Het
Vmn2r54	A	C	7: 12,349,209 (GRCm39)	L791R	possibly damaging	Het
Washc1	A	T	17: 66,425,111 (GRCm39)	T372S	probably benign	Het
Zfp1005	A	G	2: 150,110,198 (GRCm39)	E296G	possibly damaging	Het

Other mutations in Tmem41b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Tmem41b	APN	7	109,577,909 (GRCm39)	splice site	probably benign
IGL02174:Tmem41b	APN	7	109,578,003 (GRCm39)	missense	possibly damaging	0.89
IGL02232:Tmem41b	APN	7	109,577,960 (GRCm39)	missense	probably damaging	0.98
IGL02523:Tmem41b	APN	7	109,581,935 (GRCm39)	missense	probably damaging	1.00
R0610:Tmem41b	UTSW	7	109,580,292 (GRCm39)	missense	probably damaging	0.99
R0610:Tmem41b	UTSW	7	109,580,290 (GRCm39)	missense	probably benign	0.02
R0840:Tmem41b	UTSW	7	109,580,256 (GRCm39)	missense	probably damaging	1.00
R4610:Tmem41b	UTSW	7	109,573,941 (GRCm39)	unclassified	probably benign
R5502:Tmem41b	UTSW	7	109,581,970 (GRCm39)	nonsense	probably null
R5650:Tmem41b	UTSW	7	109,574,072 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTGTACACACTGTCAAGAGAAGACA -3'
(R):5'- CATGGACGCCCTTGCCTA -3'

Sequencing Primer
(F):5'- AATGATGCTGACCACTTTCAGGG -3'
(R):5'- CCTTGCCTAGCTCTAAGGGATAAG -3'

Posted On

2016-11-21