Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02968:Tmem185b'

365688

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem185b

Ensembl Gene

ENSMUSG00000098923

Gene Name

transmembrane protein 185B

Synonyms

2500001K11Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

IGL02968

Quality Score

Status

Chromosome

Chromosomal Location

119453890-119456713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119454851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 204 (A204E)

Ref Sequence

ENSEMBL: ENSMUSP00000139021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000183952]

AlphaFold

Q8R3R5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183607

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183952
AA Change: A204E

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139021
Gene: ENSMUSG00000098923
AA Change: A204E

Domain	Start	End	E-Value	Type
Pfam:Tmemb_185A	30	253	2.3e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192489
AA Change: Q233K

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,900,454 (GRCm39)	D441V	probably damaging	Het
Abcd1	T	C	X: 72,760,664 (GRCm39)	S10P	possibly damaging	Het
Acad12	T	C	5: 121,748,101 (GRCm39)	S106G	probably benign	Het
C1s1	T	C	6: 124,517,310 (GRCm39)	T127A	probably damaging	Het
Cela3a	A	G	4: 137,131,132 (GRCm39)	V202A	probably damaging	Het
Cenpu	T	C	8: 47,009,230 (GRCm39)		probably null	Het
Dusp9	T	C	X: 72,685,039 (GRCm39)	S222P	probably benign	Het
Exoc5	A	G	14: 49,270,726 (GRCm39)		probably null	Het
Foxp1	G	T	6: 99,052,822 (GRCm39)	A90D	probably damaging	Het
Krt12	G	T	11: 99,308,843 (GRCm39)	A398E	probably damaging	Het
Mtss1	G	T	15: 58,828,364 (GRCm39)	T183K	possibly damaging	Het
Napa	T	C	7: 15,847,266 (GRCm39)		probably benign	Het
Nlrp2	T	C	7: 5,304,024 (GRCm39)	E167G	possibly damaging	Het
Nos2	T	C	11: 78,828,463 (GRCm39)	Y148H	probably damaging	Het
Or2t43	T	C	11: 58,458,021 (GRCm39)	D50G	possibly damaging	Het
Or51aa5	C	T	7: 103,167,466 (GRCm39)	V42M	probably damaging	Het
Or52e18	A	T	7: 104,609,451 (GRCm39)	F163I	possibly damaging	Het
Pde7a	G	A	3: 19,297,285 (GRCm39)	R122*	probably null	Het
Pkdrej	A	T	15: 85,700,382 (GRCm39)	Y1851*	probably null	Het
Rbl1	C	T	2: 157,019,194 (GRCm39)	R517H	probably damaging	Het
Rnf10	A	T	5: 115,383,947 (GRCm39)	S661T	probably benign	Het
Ryr1	T	C	7: 28,743,318 (GRCm39)	D3886G	probably damaging	Het
Samd9l	A	G	6: 3,376,026 (GRCm39)	Y412H	probably damaging	Het
Scarf1	T	C	11: 75,414,915 (GRCm39)	S530P	probably damaging	Het
Spam1	A	G	6: 24,796,442 (GRCm39)	E131G	possibly damaging	Het
Tshz3	A	G	7: 36,469,249 (GRCm39)	K413E	probably damaging	Het
Vps13d	A	G	4: 144,849,068 (GRCm39)	S2448P	probably benign	Het
Xkr5	T	C	8: 18,983,641 (GRCm39)	S634G	probably benign	Het
Zic1	G	A	9: 91,244,543 (GRCm39)	T372M	probably damaging	Het

Other mutations in Tmem185b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3714:Tmem185b	UTSW	1	119,454,781 (GRCm39)	missense	possibly damaging	0.46
R5331:Tmem185b	UTSW	1	119,455,322 (GRCm39)	utr 3 prime	probably benign
R5965:Tmem185b	UTSW	1	119,454,294 (GRCm39)	nonsense	probably null
R5969:Tmem185b	UTSW	1	119,455,193 (GRCm39)	missense	probably benign	0.01
R6444:Tmem185b	UTSW	1	119,454,365 (GRCm39)	missense	probably damaging	1.00
R6709:Tmem185b	UTSW	1	119,454,604 (GRCm39)	missense	probably benign	0.00
R8903:Tmem185b	UTSW	1	119,454,198 (GRCm39)	start gained	probably benign
R8926:Tmem185b	UTSW	1	119,454,406 (GRCm39)	missense	probably benign	0.00
R9246:Tmem185b	UTSW	1	119,454,368 (GRCm39)	missense	probably damaging	0.96
R9649:Tmem185b	UTSW	1	119,454,613 (GRCm39)	missense	probably benign	0.00
R9683:Tmem185b	UTSW	1	119,454,748 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18