Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02534:Tmem9b'

297428

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem9b

Ensembl Gene

ENSMUSG00000031021

Gene Name

TMEM9 domain family, member B

Synonyms

D7H11orf15, ICRFP703B1614Q5.3, ICRFP703N2430Q5.3, 2310004K06Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

IGL02534

Quality Score

Status

Chromosome

Chromosomal Location

109335043-109351470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109336164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 160 (L160Q)

Ref Sequence

ENSEMBL: ENSMUSP00000033333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033333] [ENSMUST00000118571]

AlphaFold

Q9JJR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000033333
AA Change: L160Q

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

SMART Domains

Protein: ENSMUSP00000033333
Gene: ENSMUSG00000031021
AA Change: L160Q

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:Tmemb_9	55	198	6e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118571
AA Change: L85Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113175
Gene: ENSMUSG00000031021
AA Change: L85Q

Domain	Start	End	E-Value	Type
Pfam:Tmemb_9	1	123	1.1e-62	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	C	T	13: 95,506,030 (GRCm39)	E186K	possibly damaging	Het
Ajm1	G	T	2: 25,467,043 (GRCm39)	S956*	probably null	Het
Anks1b	A	G	10: 90,730,979 (GRCm39)	I932V	probably benign	Het
Atg2b	A	G	12: 105,609,526 (GRCm39)	Y1361H	probably damaging	Het
Bcl9	G	T	3: 97,122,545 (GRCm39)	L85M	probably damaging	Het
Bcl9l	T	G	9: 44,417,036 (GRCm39)	S291R	probably benign	Het
Cpa2	T	A	6: 30,550,767 (GRCm39)	D201E	probably benign	Het
Efna5	A	T	17: 62,920,384 (GRCm39)	C164*	probably null	Het
Fhip2b	A	T	14: 70,823,128 (GRCm39)	H642Q	probably damaging	Het
Fhip2b	T	A	14: 70,823,630 (GRCm39)	H580L	probably benign	Het
Gm6316	A	G	12: 69,967,763 (GRCm39)		probably benign	Het
Gucy2g	A	G	19: 55,229,500 (GRCm39)	S57P	probably damaging	Het
Inf2	C	A	12: 112,576,930 (GRCm39)	A968E	unknown	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Mcm5	T	A	8: 75,840,861 (GRCm39)	V222E	probably damaging	Het
Muc5b	A	G	7: 141,398,456 (GRCm39)	Y287C	unknown	Het
Or12e9	T	G	2: 87,202,598 (GRCm39)	S241A	probably benign	Het
Or13a24	A	T	7: 140,154,554 (GRCm39)	M163L	probably benign	Het
Or14c39	G	A	7: 86,343,939 (GRCm39)	V92M	probably benign	Het
Or8u10	A	G	2: 85,915,713 (GRCm39)	M136T	probably damaging	Het
Pabpc1l	A	G	2: 163,869,410 (GRCm39)	D70G	probably damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Ppp1r17	C	A	6: 56,003,445 (GRCm39)	S86*	probably null	Het
Rasd1	A	G	11: 59,855,615 (GRCm39)	M6T	possibly damaging	Het
Rsph14	C	A	10: 74,793,466 (GRCm39)	V345F	probably damaging	Het
Slc11a2	T	A	15: 100,299,207 (GRCm39)	Q121L	probably benign	Het
Smc5	A	T	19: 23,205,536 (GRCm39)		probably null	Het
Tanc2	T	C	11: 105,725,994 (GRCm39)	L386P	probably damaging	Het
Trim32	A	G	4: 65,532,906 (GRCm39)	T488A	possibly damaging	Het
Tubb1	A	G	2: 174,297,462 (GRCm39)	I24V	probably benign	Het
Upf1	A	T	8: 70,788,302 (GRCm39)		probably null	Het
Zfp263	T	A	16: 3,564,279 (GRCm39)		probably benign	Het

Other mutations in Tmem9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1529:Tmem9b	UTSW	7	109,336,156 (GRCm39)	missense	probably benign	0.01
R5007:Tmem9b	UTSW	7	109,344,550 (GRCm39)	nonsense	probably null
R6229:Tmem9b	UTSW	7	109,344,627 (GRCm39)	critical splice acceptor site	probably null
R6264:Tmem9b	UTSW	7	109,344,612 (GRCm39)	missense	probably damaging	1.00
R8681:Tmem9b	UTSW	7	109,344,527 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16