Mutagenetix > Incidental Mutation

Incidental Mutation 'R4778:Tmem89'

368095

Institutional Source

Beutler Lab

Gene Symbol

Tmem89

Ensembl Gene

ENSMUSG00000025652

Gene Name

transmembrane protein 89

Synonyms

1700024B07Rik

MMRRC Submission

042414-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108743687-108744631 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108744443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 112 (V112A)

Ref Sequence

ENSEMBL: ENSMUSP00000026744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026744] [ENSMUST00000098376] [ENSMUST00000192852]

AlphaFold

Q9DA04

Predicted Effect

probably damaging
Transcript: ENSMUST00000026744
AA Change: V112A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026744
Gene: ENSMUSG00000025652
AA Change: V112A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TMEM89	23	47	6.3e-16	PFAM
Pfam:TMEM89	46	166	1.1e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098376

SMART Domains

Protein: ENSMUSP00000095979
Gene: ENSMUSG00000023259

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	69	458	4.4e-113	PFAM
low complexity region	471	484	N/A	INTRINSIC
PDB:3LLO\|A	489	546	2e-16	PDB
low complexity region	554	593	N/A	INTRINSIC
low complexity region	638	650	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191404

Predicted Effect

probably benign
Transcript: ENSMUST00000192852

SMART Domains

Protein: ENSMUSP00000142016
Gene: ENSMUSG00000025652

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TMEM89	23	47	1.8e-15	PFAM
Pfam:TMEM89	45	118	1.3e-37	PFAM

Meta Mutation Damage Score

0.1059

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,615,342 (GRCm39)	N1349S	probably damaging	Het
Ahnak	T	C	19: 8,989,339 (GRCm39)	V3541A	possibly damaging	Het
Arhgap33	T	A	7: 30,231,518 (GRCm39)	T156S	probably benign	Het
Bltp1	T	A	3: 36,991,214 (GRCm39)	M897K	possibly damaging	Het
Card11	G	T	5: 140,869,537 (GRCm39)		probably null	Het
Cdh3	T	A	8: 107,270,458 (GRCm39)	I445N	probably damaging	Het
Csrp3	T	G	7: 48,482,311 (GRCm39)	K169N	probably damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Czib	T	C	4: 107,749,195 (GRCm39)	V64A	probably damaging	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Erc1	A	T	6: 119,774,298 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,491,363 (GRCm39)	V3808A	probably benign	Het
Fbxw19	T	C	9: 109,323,714 (GRCm39)	D87G	probably damaging	Het
Gm1123	T	C	9: 98,900,560 (GRCm39)	I99V	probably benign	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hand1	T	C	11: 57,722,449 (GRCm39)	D55G	possibly damaging	Het
Lrguk	T	A	6: 34,033,015 (GRCm39)	I227K	probably damaging	Het
Mdn1	C	T	4: 32,683,583 (GRCm39)	R726*	probably null	Het
Minar1	T	A	9: 89,485,155 (GRCm39)	I81F	probably damaging	Het
Myo16	T	A	8: 10,619,694 (GRCm39)	V1415E	probably damaging	Het
Myof	T	C	19: 37,938,011 (GRCm39)	D901G	probably damaging	Het
Naip1	A	G	13: 100,563,156 (GRCm39)	Y670H	probably damaging	Het
Nmd3	T	A	3: 69,638,924 (GRCm39)	Y171*	probably null	Het
Notch4	C	T	17: 34,801,485 (GRCm39)	A1111V	possibly damaging	Het
Nphp4	T	A	4: 152,640,748 (GRCm39)	D1038E	probably benign	Het
Or2ag1b	A	C	7: 106,288,874 (GRCm39)	S21R	probably damaging	Het
Or5p60	A	T	7: 107,723,687 (GRCm39)	I261N	possibly damaging	Het
Osbpl10	C	T	9: 114,938,598 (GRCm39)	S86L	probably damaging	Het
Pcsk6	G	A	7: 65,608,893 (GRCm39)	G252R	probably damaging	Het
Pole	T	G	5: 110,478,698 (GRCm39)	H15Q	probably benign	Het
Pstpip1	A	G	9: 56,035,904 (GRCm39)	D383G	possibly damaging	Het
Ptprq	T	C	10: 107,426,883 (GRCm39)	T1551A	probably benign	Het
Rasgrf2	A	G	13: 92,131,780 (GRCm39)	F626L	probably damaging	Het
Retreg1	C	A	15: 25,971,871 (GRCm39)	N394K	possibly damaging	Het
Rpl7-ps8	T	A	15: 59,083,252 (GRCm39)		noncoding transcript	Het
Rpp14	T	A	14: 8,090,203 (GRCm38)	D42E	probably benign	Het
Rrp8	T	A	7: 105,386,481 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Snx1	T	C	9: 66,008,698 (GRCm39)		probably benign	Het
Stau1	A	T	2: 166,805,442 (GRCm39)	N51K	probably benign	Het
Tdrd5	T	A	1: 156,083,157 (GRCm39)	D960V	probably damaging	Het
Tex10	T	C	4: 48,436,468 (GRCm39)	D750G	probably damaging	Het
Tmem43	T	C	6: 91,459,237 (GRCm39)	V236A	probably damaging	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Vmn1r41	A	C	6: 89,724,257 (GRCm39)	K266T	probably damaging	Het
Vmn2r65	T	C	7: 84,592,801 (GRCm39)	K469E	possibly damaging	Het
Zfp831	A	G	2: 174,488,600 (GRCm39)	T1092A	possibly damaging	Het
Zfp981	T	A	4: 146,622,112 (GRCm39)	S346T	probably benign	Het

Other mutations in Tmem89

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0060:Tmem89	UTSW	9	108,744,485 (GRCm39)	missense	probably damaging	1.00
R0060:Tmem89	UTSW	9	108,744,485 (GRCm39)	missense	probably damaging	1.00
R0063:Tmem89	UTSW	9	108,743,880 (GRCm39)	missense	probably benign	0.00
R0063:Tmem89	UTSW	9	108,743,880 (GRCm39)	missense	probably benign	0.00
R2447:Tmem89	UTSW	9	108,743,868 (GRCm39)	missense	probably damaging	0.98
R4906:Tmem89	UTSW	9	108,743,829 (GRCm39)	unclassified	probably benign
R5529:Tmem89	UTSW	9	108,744,545 (GRCm39)	missense	probably damaging	0.98
R8676:Tmem89	UTSW	9	108,744,095 (GRCm39)	missense	unknown
R9095:Tmem89	UTSW	9	108,743,729 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACTAGTCCTCTGGTCCATCTG -3'
(R):5'- GAGAAGCATATATTGGGTCACCC -3'

Sequencing Primer
(F):5'- ATTCTTCATCCAGCCACCATGGG -3'
(R):5'- GGGTCACCCAGACTGAGG -3'

Posted On

2015-12-29