Mutagenetix > Incidental Mutations

Incidental Mutation 'R4491:Tmem30a'

330737

Institutional Source

Beutler Lab

Gene Symbol

Tmem30a

Ensembl Gene

ENSMUSG00000032328

Gene Name

transmembrane protein 30A

Synonyms

Cdc50a, D9Wsu20e, 2010200I23Rik

MMRRC Submission

041747-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79768943-79793507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79777285 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 95 (H95R)

Ref Sequence

ENSEMBL: ENSMUSP00000114042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034878] [ENSMUST00000120690]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034878
AA Change: H131R

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

SMART Domains

Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328
AA Change: H131R

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
Pfam:CDC50	69	358	1.3e-98	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120690
AA Change: H95R

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

SMART Domains

Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328
AA Change: H95R

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
Pfam:CDC50	50	325	3.4e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153815

Meta Mutation Damage Score

0.9437

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

PHENOTYPE: Conditional homozygous knockout in the liver leads to jaundice, increased bilirubin and bile salt levels, liver inflammation and liver fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 63,898,469	P183T	probably damaging	Het
6430573F11Rik	G	A	8: 36,505,606	C70Y	probably damaging	Het
Bcan	G	A	3: 87,990,233	R682*	probably null	Het
Bzw1	T	A	1: 58,404,259	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,113,040	I48F	probably damaging	Het
Cdhr5	T	C	7: 141,274,057	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,429,171	M480T	probably benign	Het
Col6a5	C	T	9: 105,940,012	A367T	unknown	Het
Colca2	A	G	9: 51,270,655	F206L	probably benign	Het
Cpsf1	A	C	15: 76,597,722	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,228,074	H54L	probably benign	Het
Dmtf1	A	G	5: 9,140,379		probably benign	Het
Dnah12	T	C	14: 26,734,603	L827S	possibly damaging	Het
Dsc3	T	C	18: 20,001,865	T21A	probably benign	Het
Epb41l1	G	T	2: 156,522,168	D866Y	probably benign	Het
Epha1	T	C	6: 42,360,666	M860V	probably damaging	Het
Far2	T	C	6: 148,173,409	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,989,299	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,752,968		probably null	Het
Focad	G	A	4: 88,359,905		probably null	Het
Gm14180	T	A	11: 99,730,313		probably benign	Het
Hbb-bh2	T	C	7: 103,840,415	T5A	probably benign	Het
Ighv7-2	A	G	12: 113,912,480	F2L	probably benign	Het
Igsf5	A	G	16: 96,364,081	T19A	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Klb	A	G	5: 65,375,794	N482S	probably benign	Het
Lipo2	A	C	19: 33,721,700	L310R	probably damaging	Het
Mc3r	A	G	2: 172,249,203	H115R	possibly damaging	Het
Meioc	A	G	11: 102,674,920	D398G	possibly damaging	Het
Olfr1130	G	A	2: 87,607,392	M1I	probably null	Het
Olfr1353	T	C	10: 78,970,317	S223P	probably damaging	Het
Olfr683	A	T	7: 105,143,776	C172*	probably null	Het
Pds5a	T	C	5: 65,635,437	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,637	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,734,408		probably null	Het
Plch1	T	C	3: 63,740,739	I404V	probably damaging	Het
Ppp2r5c	A	T	12: 110,580,522	D522V	possibly damaging	Het
Prex2	T	A	1: 11,162,263	S851R	probably benign	Het
Rapgef1	C	T	2: 29,719,656	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,391,385	D976V	probably damaging	Het
Rasef	A	C	4: 73,734,503	L587R	probably damaging	Het
Rptn	A	T	3: 93,396,511	R384*	probably null	Het
Sema6a	G	A	18: 47,306,457		probably benign	Het
Sycp2	G	T	2: 178,374,985	T608K	probably damaging	Het
Syde1	C	T	10: 78,590,228	R35H	probably benign	Het
Taf1	G	T	X: 101,543,059	M313I	possibly damaging	Het
Taf15	A	T	11: 83,484,694	T31S	probably benign	Het
Tktl2	T	C	8: 66,512,012	V74A	probably damaging	Het
Tle4	A	G	19: 14,454,865	V489A	probably damaging	Het
Vmn1r75	C	A	7: 11,880,982	Q214K	probably damaging	Het
Vps13c	C	T	9: 67,910,193	T1049M	probably benign	Het
Wdr78	T	C	4: 103,066,399	E411G	probably benign	Het
Zfp37	T	C	4: 62,192,128	Q274R	probably benign	Het
Zfp648	T	G	1: 154,205,127	L344R	probably damaging	Het

Other mutations in Tmem30a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Tmem30a	APN	9	79775100	critical splice donor site	probably null
IGL01701:Tmem30a	APN	9	79774179	missense	probably damaging	1.00
IGL02043:Tmem30a	APN	9	79774089	splice site	probably benign
IGL02319:Tmem30a	APN	9	79774203	missense	probably damaging	1.00
IGL02629:Tmem30a	APN	9	79776249	splice site	probably benign
IGL02983:Tmem30a	APN	9	79771443	missense	possibly damaging	0.90
Imbroglio	UTSW	9	79774265	nonsense	probably null
R0085:Tmem30a	UTSW	9	79771294	missense	probably benign	0.02
R0496:Tmem30a	UTSW	9	79777285	missense	probably damaging	1.00
R0498:Tmem30a	UTSW	9	79774094	nonsense	probably null
R1546:Tmem30a	UTSW	9	79771288	makesense	probably null
R1648:Tmem30a	UTSW	9	79793029	missense	probably damaging	1.00
R2018:Tmem30a	UTSW	9	79774218	missense	probably damaging	1.00
R2019:Tmem30a	UTSW	9	79774218	missense	probably damaging	1.00
R2259:Tmem30a	UTSW	9	79774164	missense	probably benign	0.13
R2260:Tmem30a	UTSW	9	79774164	missense	probably benign	0.13
R4492:Tmem30a	UTSW	9	79777285	missense	probably damaging	1.00
R5289:Tmem30a	UTSW	9	79776154	missense	probably damaging	0.99
R5433:Tmem30a	UTSW	9	79780648	missense	probably damaging	0.98
R6707:Tmem30a	UTSW	9	79774265	nonsense	probably null
R7662:Tmem30a	UTSW	9	79775231	missense	probably benign
R7732:Tmem30a	UTSW	9	79780544	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- AGCTATTTTGTGGGCATTCAAG -3'
(R):5'- GTTGCTACTTAACCTCAGTACCTG -3'

Sequencing Primer
(F):5'- TTTGTGGGCATTCAAGAAAAAGC -3'
(R):5'- GTTAAAAGGTTTTCCCTTTCTG -3'

Posted On

2015-07-21