Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02174:Tmem41b'

283030

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem41b

Ensembl Gene

ENSMUSG00000047554

Gene Name

transmembrane protein 41B

Synonyms

1500031M19Rik, 1500015G02Rik, D7Ertd70e, D7Ertd743e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL02174

Quality Score

Status

Chromosome

Chromosomal Location

109571394-109586136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109578003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 94 (S94P)

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: S161P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091641
Gene: ENSMUSG00000047554
AA Change: S161P

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: S161P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112574
Gene: ENSMUSG00000047554
AA Change: S161P

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: S94P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113215
Gene: ENSMUSG00000047554
AA Change: S94P

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

silent
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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,738,154 (GRCm39)	I1199V	probably damaging	Het
Adgrv1	G	A	13: 81,575,783 (GRCm39)	T4861I	probably benign	Het
Ampd2	T	C	3: 107,987,601 (GRCm39)	D108G	probably damaging	Het
Azin1	A	G	15: 38,493,730 (GRCm39)	F298L	probably benign	Het
Bag1	T	A	4: 40,941,555 (GRCm39)	E123D	possibly damaging	Het
Cabs1	A	G	5: 88,128,339 (GRCm39)	E330G	probably benign	Het
Ccdc33	T	C	9: 57,940,938 (GRCm39)	K435E	probably benign	Het
Clip2	T	G	5: 134,523,118 (GRCm39)	K943T	probably damaging	Het
Cmya5	T	C	13: 93,185,415 (GRCm39)	I3527V	possibly damaging	Het
Cyp2w1	C	T	5: 139,341,384 (GRCm39)	R244C	probably benign	Het
Dcaf13	C	A	15: 39,001,544 (GRCm39)	A284E	probably damaging	Het
Ddx31	T	A	2: 28,749,041 (GRCm39)	L279Q	probably damaging	Het
Dgki	A	G	6: 37,009,856 (GRCm39)	L497P	probably damaging	Het
Dnah12	A	T	14: 26,428,072 (GRCm39)	I233F	probably benign	Het
Dpp6	G	T	5: 27,926,085 (GRCm39)	G720*	probably null	Het
Emc1	T	C	4: 139,098,979 (GRCm39)	Y821H	possibly damaging	Het
Esr1	C	T	10: 4,948,003 (GRCm39)	R519W	probably damaging	Het
Gamt	A	T	10: 80,094,230 (GRCm39)	V227E	possibly damaging	Het
Habp2	A	G	19: 56,300,169 (GRCm39)	Q206R	probably damaging	Het
Ihh	A	G	1: 74,990,105 (GRCm39)	I90T	probably damaging	Het
Kif20b	T	C	19: 34,911,858 (GRCm39)		probably benign	Het
Lcp2	T	C	11: 34,000,966 (GRCm39)		probably benign	Het
Lyrm2	A	G	4: 32,800,649 (GRCm39)	I29V	probably benign	Het
Macf1	T	C	4: 123,385,587 (GRCm39)	D1168G	probably damaging	Het
Mocos	T	C	18: 24,828,953 (GRCm39)	S753P	probably benign	Het
Myo3a	A	G	2: 22,337,204 (GRCm39)	E367G	probably benign	Het
Ndor1	G	A	2: 25,139,206 (GRCm39)	A255V	possibly damaging	Het
Nfat5	C	T	8: 108,065,683 (GRCm39)	P148S	probably damaging	Het
Or4c121	A	T	2: 89,023,712 (GRCm39)	F222Y	probably benign	Het
Or5al7	T	A	2: 85,992,442 (GRCm39)	M284L	possibly damaging	Het
Or6z7	T	C	7: 6,483,438 (GRCm39)	Y239C	probably benign	Het
Or8b41	A	T	9: 38,055,081 (GRCm39)	T217S	possibly damaging	Het
Pappa2	C	T	1: 158,589,188 (GRCm39)	C1679Y	probably damaging	Het
Pcdhb2	T	A	18: 37,429,551 (GRCm39)	I508N	probably damaging	Het
Pkd2l1	G	A	19: 44,145,707 (GRCm39)	T172I	probably benign	Het
Pld5	A	G	1: 176,102,310 (GRCm39)	V44A	possibly damaging	Het
Prss44	T	C	9: 110,646,199 (GRCm39)	W309R	probably damaging	Het
Rc3h2	A	T	2: 37,301,237 (GRCm39)	N88K	probably benign	Het
Rspry1	A	G	8: 95,359,768 (GRCm39)	I102M	possibly damaging	Het
Stab2	A	G	10: 86,695,606 (GRCm39)		probably null	Het
Tbx3	C	A	5: 119,813,649 (GRCm39)	Y228*	probably null	Het
Tcf15	G	T	2: 151,986,065 (GRCm39)		probably benign	Het
Trmt10b	A	T	4: 45,308,508 (GRCm39)	I223F	possibly damaging	Het
Tyrp1	G	T	4: 80,763,063 (GRCm39)	G317*	probably null	Het
Urod	T	A	4: 116,847,479 (GRCm39)		probably benign	Het
Vwf	G	T	6: 125,532,358 (GRCm39)	R52L	probably damaging	Het
Wnk2	C	A	13: 49,210,643 (GRCm39)	Q232H	probably damaging	Het
Zbtb10	C	A	3: 9,316,872 (GRCm39)	P228Q	probably damaging	Het
Zfp764l1	G	A	7: 126,991,525 (GRCm39)	T154I	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
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
R5769:Tmem41b	UTSW	7	109,577,945 (GRCm39)	missense	possibly damaging	0.69

Posted On

2015-04-16