Mutagenetix > Incidental Mutation

Incidental Mutation 'V3553:Tmem167'

44058

Institutional Source

Beutler Lab

Gene Symbol

Tmem167

Ensembl Gene

ENSMUSG00000012422

Gene Name

transmembrane protein 167

Synonyms

5730424F14Rik, 0610041E09Rik, Gm10085

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

V3553 () of strain feckless

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90237843-90263047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 90246585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 36 (K36N)

Ref Sequence

ENSEMBL: ENSMUSP00000124571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012566] [ENSMUST00000161457] [ENSMUST00000161568]

AlphaFold

Q9CR64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012566
AA Change: K36N

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000012566
Gene: ENSMUSG00000012422
AA Change: K36N

Domain	Start	End	E-Value	Type
Pfam:DUF1242	10	44	2.1e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157683

Predicted Effect

probably damaging
Transcript: ENSMUST00000161457
AA Change: K36N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124571
Gene: ENSMUSG00000012422
AA Change: K36N

Domain	Start	End	E-Value	Type
Pfam:DUF1242	10	44	4.6e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161568
AA Change: K36N

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125314
Gene: ENSMUSG00000012422
AA Change: K36N

Domain	Start	End	E-Value	Type
Pfam:DUF1242	10	44	3.5e-23	PFAM
transmembrane domain	54	71	N/A	INTRINSIC

Meta Mutation Damage Score

0.4911

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

All alleles(27) : Gene trapped(27)

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcas3	G	A	11: 85,712,926 (GRCm39)		probably benign	Het
Bicral	G	T	17: 47,141,021 (GRCm39)	N20K	probably damaging	Het
Dnah9	C	A	11: 65,860,902 (GRCm39)	G2823C	probably damaging	Het
Hcfc2	T	C	10: 82,547,895 (GRCm39)	W296R	probably damaging	Het
Lrp1	C	T	10: 127,407,311 (GRCm39)	G1877S	probably damaging	Het
Rhbdf1	G	A	11: 32,161,583 (GRCm39)	P575L	probably damaging	Het
Sh3pxd2a	G	A	19: 47,255,658 (GRCm39)	P1048L	probably benign	Het
Tgm5	C	T	2: 120,901,983 (GRCm39)	V229I	probably damaging	Het
Tnfrsf21	G	A	17: 43,348,822 (GRCm39)	A145T	probably benign	Het
Zfp84	G	T	7: 29,476,672 (GRCm39)	A455S	probably benign	Het

Other mutations in Tmem167

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01665:Tmem167	APN	13	90,246,504 (GRCm39)	missense	probably damaging	1.00
IGL02602:Tmem167	APN	13	90,252,499 (GRCm39)	missense	probably damaging	0.98
3370:Tmem167	UTSW	13	90,246,585 (GRCm39)	missense	probably damaging	0.99
H8786:Tmem167	UTSW	13	90,246,585 (GRCm39)	missense	probably damaging	0.99
R3236:Tmem167	UTSW	13	90,252,499 (GRCm39)	missense	probably benign	0.34
R4820:Tmem167	UTSW	13	90,252,548 (GRCm39)	missense	probably benign	0.06
R7041:Tmem167	UTSW	13	90,246,533 (GRCm39)	missense	probably benign	0.26
R8268:Tmem167	UTSW	13	90,252,554 (GRCm39)	missense	probably damaging	1.00
R8516:Tmem167	UTSW	13	90,246,515 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmem167	UTSW	13	90,251,406 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCCTCTGCATGTCTTGAACACTC -3'
(R):5'- CCAGCAGTCGGATAAATCCTTCCTC -3'

Sequencing Primer
(F):5'- CACTGTAAAGACTTCATGATGCTGG -3'
(R):5'- AGGTCACACCAGATCATTCTTG -3'

Posted On

2013-05-31