Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02239:Tmem229a'

286021

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem229a

Ensembl Gene

ENSMUSG00000048022

Gene Name

transmembrane protein 229A

Synonyms

6332401O19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02239

Quality Score

Status

Chromosome

Chromosomal Location

24951140-24956124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24955539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 72 (S72T)

Ref Sequence

ENSEMBL: ENSMUSP00000116234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127247]

AlphaFold

B9EJI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000127247
AA Change: S72T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116234
Gene: ENSMUSG00000048022
AA Change: S72T

Domain	Start	End	E-Value	Type
low complexity region	31	47	N/A	INTRINSIC
internal_repeat_1	51	108	1.6e-5	PROSPERO
low complexity region	139	163	N/A	INTRINSIC
low complexity region	208	220	N/A	INTRINSIC
internal_repeat_1	229	286	1.6e-5	PROSPERO
transmembrane domain	301	319	N/A	INTRINSIC
transmembrane domain	332	354	N/A	INTRINSIC

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
Abcf3	A	G	16: 20,369,386 (GRCm39)	E262G	possibly damaging	Het
Adgra3	T	A	5: 50,118,054 (GRCm39)	S1165C	probably damaging	Het
Akap11	A	G	14: 78,751,289 (GRCm39)	L366P	probably damaging	Het
Astn1	T	C	1: 158,491,700 (GRCm39)		probably null	Het
Bhmt2	C	T	13: 93,799,687 (GRCm39)	G250R	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntnap2	A	G	6: 46,998,588 (GRCm39)	D880G	probably damaging	Het
Erc1	A	G	6: 119,750,852 (GRCm39)	V443A	probably damaging	Het
Fbxw15	A	G	9: 109,388,905 (GRCm39)	I168T	probably benign	Het
Fgfr2	C	T	7: 129,779,416 (GRCm39)	A504T	probably damaging	Het
Galm	A	G	17: 80,452,467 (GRCm39)	D135G	probably damaging	Het
Gstp3	C	T	19: 4,107,899 (GRCm39)	V145I	possibly damaging	Het
Hspa5	T	C	2: 34,662,788 (GRCm39)	F115L	probably benign	Het
Lig4	A	C	8: 10,022,473 (GRCm39)	S436A	probably damaging	Het
Ncam1	A	G	9: 49,478,702 (GRCm39)	V99A	probably damaging	Het
Nell1	T	A	7: 49,899,398 (GRCm39)	I336N	probably benign	Het
Or52ad1	T	C	7: 102,995,805 (GRCm39)	Y110C	probably damaging	Het
Or5p55	T	C	7: 107,567,254 (GRCm39)	S217P	probably damaging	Het
Or8g20	T	A	9: 39,395,857 (GRCm39)	I231F	probably damaging	Het
Patl1	A	T	19: 11,914,723 (GRCm39)	K625*	probably null	Het
Qrsl1	G	A	10: 43,770,596 (GRCm39)	P99S	possibly damaging	Het
Rfx8	T	C	1: 39,720,046 (GRCm39)	D343G	probably benign	Het
Scart2	T	C	7: 139,875,756 (GRCm39)	F340S	probably damaging	Het
Serpinb3a	T	A	1: 106,979,418 (GRCm39)	Y28F	probably benign	Het
Slc6a4	A	T	11: 76,917,982 (GRCm39)	I575F	probably benign	Het
Tbx5	T	A	5: 120,009,345 (GRCm39)	S285T	possibly damaging	Het
Ttn	T	C	2: 76,576,748 (GRCm39)	D24715G	probably damaging	Het
Zfp784	T	C	7: 5,038,670 (GRCm39)		probably benign	Het
Zswim2	T	A	2: 83,769,107 (GRCm39)	K85*	probably null	Het

Other mutations in Tmem229a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02801:Tmem229a	APN	6	24,955,121 (GRCm39)	missense	probably benign	0.09
R0077:Tmem229a	UTSW	6	24,955,701 (GRCm39)	missense	probably benign
R1932:Tmem229a	UTSW	6	24,955,010 (GRCm39)	missense	probably damaging	1.00
R2016:Tmem229a	UTSW	6	24,955,061 (GRCm39)	missense	probably benign	0.00
R3522:Tmem229a	UTSW	6	24,955,058 (GRCm39)	missense	probably benign	0.01
R4229:Tmem229a	UTSW	6	24,954,831 (GRCm39)	missense	probably damaging	1.00
R4230:Tmem229a	UTSW	6	24,954,831 (GRCm39)	missense	probably damaging	1.00
R5610:Tmem229a	UTSW	6	24,955,580 (GRCm39)	missense	probably damaging	1.00
R5836:Tmem229a	UTSW	6	24,955,016 (GRCm39)	missense	probably damaging	1.00
R5869:Tmem229a	UTSW	6	24,954,686 (GRCm39)	missense	probably damaging	1.00
R5878:Tmem229a	UTSW	6	24,955,172 (GRCm39)	missense	probably benign
R6505:Tmem229a	UTSW	6	24,954,920 (GRCm39)	missense	probably damaging	1.00
R6915:Tmem229a	UTSW	6	24,954,657 (GRCm39)	missense	probably benign	0.19
R7442:Tmem229a	UTSW	6	24,955,689 (GRCm39)	missense	probably damaging	1.00
R7692:Tmem229a	UTSW	6	24,955,211 (GRCm39)	missense	probably benign	0.19
R8252:Tmem229a	UTSW	6	24,955,580 (GRCm39)	missense	probably damaging	1.00
R8844:Tmem229a	UTSW	6	24,955,187 (GRCm39)	missense	probably benign	0.00
R8881:Tmem229a	UTSW	6	24,955,587 (GRCm39)	missense	probably damaging	1.00
Z1176:Tmem229a	UTSW	6	24,954,880 (GRCm39)	nonsense	probably null

Posted On

2015-04-16