Mutagenetix > Incidental Mutation

Incidental Mutation 'R0840:Tmem41b'

77113

Institutional Source

Beutler Lab

Gene Symbol

Tmem41b

Ensembl Gene

ENSMUSG00000047554

Gene Name

transmembrane protein 41B

Synonyms

1500031M19Rik, 1500015G02Rik, D7Ertd70e, D7Ertd743e

MMRRC Submission

039019-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R0840 (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 109580256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 36 (S36F)

Ref Sequence

ENSEMBL: ENSMUSP00000113215 (fasta)

Gene Model

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

AlphaFold

Q8K1A5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094097
AA Change: S103F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091641
Gene: ENSMUSG00000047554
AA Change: S103F

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

probably damaging
Transcript: ENSMUST00000118429
AA Change: S103F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112574
Gene: ENSMUSG00000047554
AA Change: S103F

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

probably damaging
Transcript: ENSMUST00000119929
AA Change: S36F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113215
Gene: ENSMUSG00000047554
AA Change: S36F

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

possibly damaging
Transcript: ENSMUST00000135565
AA Change: S103F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121078
Gene: ENSMUSG00000047554
AA Change: S103F

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

noncoding transcript
Transcript: ENSMUST00000207300

Predicted Effect

probably benign
Transcript: ENSMUST00000154831

Meta Mutation Damage Score

0.3270

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	G	12: 71,205,657 (GRCm39)	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,382,547 (GRCm39)	T234A	probably benign	Het
Acot5	G	A	12: 84,122,614 (GRCm39)	W399*	probably null	Het
Adra1a	A	G	14: 66,965,159 (GRCm39)	E383G	possibly damaging	Het
Ahnak	T	A	19: 8,982,427 (GRCm39)	I1237N	probably damaging	Het
Bsg	A	G	10: 79,545,519 (GRCm39)	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,243,150 (GRCm39)	I436F	possibly damaging	Het
Cd109	T	C	9: 78,571,612 (GRCm39)	I417T	probably benign	Het
Cep295	A	T	9: 15,245,611 (GRCm39)	D948E	probably benign	Het
Cfap92	G	T	6: 87,657,260 (GRCm39)		noncoding transcript	Het
Clcn3	C	A	8: 61,382,188 (GRCm39)	V467F	probably benign	Het
Cntnap3	T	C	13: 64,935,724 (GRCm39)	S380G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dll4	T	A	2: 119,156,966 (GRCm39)	N79K	probably benign	Het
Ep300	A	T	15: 81,529,134 (GRCm39)	N1558I	unknown	Het
Fblim1	A	G	4: 141,308,320 (GRCm39)	F330L	possibly damaging	Het
Fbxo46	T	A	7: 18,871,073 (GRCm39)	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,384,007 (GRCm39)		probably benign	Het
Foxl2	A	T	9: 98,837,984 (GRCm39)	K91*	probably null	Het
Gapvd1	C	A	2: 34,619,125 (GRCm39)	V83F	probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
Irf8	G	A	8: 121,480,220 (GRCm39)	G153S	probably benign	Het
Kcnu1	T	A	8: 26,403,712 (GRCm39)	M1K	probably null	Het
Krt32	G	A	11: 99,972,068 (GRCm39)	P427S	probably benign	Het
Lrp12	A	G	15: 39,739,554 (GRCm39)	S529P	probably damaging	Het
Mettl22	T	C	16: 8,300,021 (GRCm39)	V134A	probably damaging	Het
Morc2b	G	T	17: 33,355,086 (GRCm39)	H895Q	probably benign	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,298,567 (GRCm39)	S1367G	possibly damaging	Het
Or10al7	A	G	17: 38,366,463 (GRCm39)	F7S	probably benign	Het
Or56b1b	A	T	7: 108,164,823 (GRCm39)	S60T	probably benign	Het
Pcnx3	T	A	19: 5,735,729 (GRCm39)		probably null	Het
Pgap2	A	T	7: 101,886,655 (GRCm39)	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,841,798 (GRCm39)	I616M	probably damaging	Het
Pisd	A	G	5: 32,894,656 (GRCm39)	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,420,745 (GRCm39)	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,363,378 (GRCm39)	I151T	probably benign	Het
Polr3a	G	A	14: 24,502,268 (GRCm39)	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,283 (GRCm39)		probably benign	Het
Prpf39	T	G	12: 65,094,980 (GRCm39)	N219K	probably benign	Het
Rnf17	T	A	14: 56,712,904 (GRCm39)	N790K	probably damaging	Het
Slit3	C	T	11: 35,514,263 (GRCm39)		probably benign	Het
Stx1a	T	A	5: 135,070,088 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,788,777 (GRCm39)	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,414,633 (GRCm39)	I143V	probably benign	Het
Trim5	A	T	7: 103,914,978 (GRCm39)	W364R	probably damaging	Het
Ttn	T	C	2: 76,617,155 (GRCm39)	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,275,071 (GRCm39)	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,780,821 (GRCm39)	S145T	possibly damaging	Het
Zfp882	T	A	8: 72,668,530 (GRCm39)	C452*	probably null	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
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
R5769:Tmem41b	UTSW	7	109,577,945 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- actgccccgCATTAACATTTGGAA -3'
(R):5'- ACATCCTCCATCCAGTAGTCACCTC -3'

Sequencing Primer
(F):5'- ccccgCATTAACATTTGGAAAAAAAC -3'
(R):5'- gccagccaagtctacatgatg -3'

Posted On

2013-10-16