Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02715:Tmem42'

304719

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem42

Ensembl Gene

ENSMUSG00000066233

Gene Name

transmembrane protein 42

Synonyms

D9Ertd662e, 4933429E06Rik, 0610027O18Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02715

Quality Score

Status

Chromosome

Chromosomal Location

122850391-122852770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 122851295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 86 (T86N)

Ref Sequence

ENSEMBL: ENSMUSP00000081784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040717] [ENSMUST00000084733] [ENSMUST00000213514] [ENSMUST00000214785] [ENSMUST00000216048] [ENSMUST00000216062]

AlphaFold

Q9CR22

Predicted Effect

probably benign
Transcript: ENSMUST00000040717

SMART Domains

Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768

Domain	Start	End	E-Value	Type
KISc	24	371	2.86e-179	SMART
Pfam:Kinesin-relat_1	463	551	6.6e-26	PFAM
coiled coil region	579	643	N/A	INTRINSIC
coiled coil region	706	1037	N/A	INTRINSIC
coiled coil region	1065	1133	N/A	INTRINSIC
Pfam:HMMR_C	1265	1387	3.5e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000084733
AA Change: T86N

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

SMART Domains

Protein: ENSMUSP00000081784
Gene: ENSMUSG00000066233
AA Change: T86N

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
transmembrane domain	98	120	N/A	INTRINSIC
transmembrane domain	127	144	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213514
AA Change: T86N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214077

Predicted Effect

probably benign
Transcript: ENSMUST00000214311

Predicted Effect

probably benign
Transcript: ENSMUST00000214785

Predicted Effect

probably benign
Transcript: ENSMUST00000216048

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217612

Predicted Effect

probably benign
Transcript: ENSMUST00000216062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217077

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,714 (GRCm39)	I57V	probably damaging	Het
Abce1	T	A	8: 80,416,990 (GRCm39)	E340D	probably damaging	Het
Agbl2	C	T	2: 90,636,212 (GRCm39)	R583W	probably damaging	Het
Aig1	A	G	10: 13,744,360 (GRCm39)		probably null	Het
Atpsckmt	A	G	15: 31,606,149 (GRCm39)	T36A	probably benign	Het
Brd3	C	A	2: 27,344,495 (GRCm39)	A412S	possibly damaging	Het
C3	A	G	17: 57,511,158 (GRCm39)		probably benign	Het
Ccdc127	A	G	13: 74,504,893 (GRCm39)	E147G	probably benign	Het
Chrna4	A	G	2: 180,671,374 (GRCm39)		probably benign	Het
Cnn2	T	C	10: 79,829,323 (GRCm39)	L151P	probably damaging	Het
Col11a1	G	T	3: 113,923,058 (GRCm39)	M7I	probably benign	Het
Cstdc4	T	C	16: 36,008,315 (GRCm39)	I67T	possibly damaging	Het
Fastkd1	A	G	2: 69,542,469 (GRCm39)		probably null	Het
Fcho2	A	G	13: 98,932,843 (GRCm39)	M53T	probably damaging	Het
Fmnl2	T	C	2: 52,962,222 (GRCm39)	Y236H	possibly damaging	Het
G6bos	A	G	17: 35,284,537 (GRCm39)		probably null	Het
Gramd1a	C	T	7: 30,835,279 (GRCm39)	G436D	probably damaging	Het
Hivep2	A	G	10: 14,007,131 (GRCm39)	Y1243C	probably benign	Het
Lrit2	A	G	14: 36,794,505 (GRCm39)	D523G	probably benign	Het
Lrrc2	A	C	9: 110,799,182 (GRCm39)	D177A	probably damaging	Het
Lyst	T	A	13: 13,848,905 (GRCm39)		probably null	Het
Mrgpra6	A	T	7: 46,838,396 (GRCm39)		probably benign	Het
Myh6	T	C	14: 55,184,365 (GRCm39)		probably benign	Het
Myzap	C	A	9: 71,422,397 (GRCm39)	E392*	probably null	Het
Ndst3	G	A	3: 123,340,410 (GRCm39)		probably benign	Het
Nlrc5	C	A	8: 95,201,296 (GRCm39)	P130H	probably damaging	Het
Obscn	T	C	11: 58,971,137 (GRCm39)	T2526A	probably benign	Het
Or1e26	T	A	11: 73,479,947 (GRCm39)	I206F	probably benign	Het
Pcnt	C	A	10: 76,204,556 (GRCm39)		probably benign	Het
Pfpl	T	A	19: 12,407,145 (GRCm39)	C465*	probably null	Het
Pkd1l3	T	A	8: 110,353,458 (GRCm39)	C680S	probably damaging	Het
Ppp1r10	G	T	17: 36,241,604 (GRCm39)	G793V	unknown	Het
Prss27	A	T	17: 24,263,953 (GRCm39)	D213V	possibly damaging	Het
Sh2d5	T	C	4: 137,984,018 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,851,549 (GRCm39)	D193G	probably benign	Het
Sptan1	T	C	2: 29,868,588 (GRCm39)	V66A	probably benign	Het
Synpr	T	C	14: 13,608,618 (GRCm38)	S133P	probably damaging	Het
Tagln3	T	C	16: 45,544,588 (GRCm39)	N28D	probably benign	Het
Tfrc	A	G	16: 32,443,189 (GRCm39)	T494A	probably benign	Het
Tmem38a	T	C	8: 73,333,512 (GRCm39)	I77T	possibly damaging	Het
Ttc8	T	A	12: 98,910,179 (GRCm39)		probably benign	Het
Tub	G	A	7: 108,628,517 (GRCm39)	V342I	probably benign	Het
Vmn2r103	A	T	17: 20,014,218 (GRCm39)	I337F	probably damaging	Het
Xkr7	A	G	2: 152,896,277 (GRCm39)	E377G	probably damaging	Het
Zfp292	C	T	4: 34,819,542 (GRCm39)	G260D	probably damaging	Het

Other mutations in Tmem42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5187:Tmem42	UTSW	9	122,851,232 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16