Mutagenetix > Incidental Mutation

Incidental Mutation 'R5433:Tmem30a'

484505

Institutional Source

Beutler Lab

Gene Symbol

Tmem30a

Ensembl Gene

ENSMUSG00000032328

Gene Name

transmembrane protein 30A

Synonyms

Cdc50a, 2010200I23Rik, D9Wsu20e

MMRRC Submission

042998-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79676223-79700712 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79687930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 80 (I80F)

Ref Sequence

ENSEMBL: ENSMUSP00000034878 (fasta)

Gene Model

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

AlphaFold

Q8VEK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034878
AA Change: I80F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328
AA Change: I80F

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 benign
Transcript: ENSMUST00000120690

SMART Domains

Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328

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

0.1506

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (58/58)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,657 (GRCm39)	S24G	probably damaging	Het
1810064F22Rik	A	G	9: 22,119,039 (GRCm39)		noncoding transcript	Het
Aacs	A	T	5: 125,592,078 (GRCm39)	M589L	probably benign	Het
Adamts8	A	C	9: 30,873,012 (GRCm39)	H739P	probably benign	Het
Atp8b2	T	C	3: 89,860,216 (GRCm39)		probably benign	Het
BC030500	A	G	8: 59,366,043 (GRCm39)		probably benign	Het
Btnl9	T	A	11: 49,066,830 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,940,993 (GRCm39)	A31S	probably benign	Het
Ceacam3	G	A	7: 16,893,808 (GRCm39)	A440T	possibly damaging	Het
Ces1d	G	A	8: 93,912,664 (GRCm39)	T258I	probably benign	Het
Col10a1	A	G	10: 34,266,735 (GRCm39)		probably benign	Het
Coro1b	C	T	19: 4,203,449 (GRCm39)	A430V	probably benign	Het
Cyp2c65	A	T	19: 39,081,928 (GRCm39)	I485L	probably benign	Het
Dio1	A	T	4: 107,163,977 (GRCm39)		probably benign	Het
Dmxl1	G	A	18: 50,000,966 (GRCm39)		probably null	Het
Dynlt5	A	G	4: 102,859,700 (GRCm39)	E84G	possibly damaging	Het
Elp6	A	G	9: 110,144,851 (GRCm39)	Y136C	probably damaging	Het
Gon4l	A	T	3: 88,803,532 (GRCm39)	Q1382L	possibly damaging	Het
Guca1a	T	C	17: 47,711,295 (GRCm39)	E17G	probably damaging	Het
Gucy2d	G	A	7: 98,098,982 (GRCm39)	G267E	probably damaging	Het
Gvin3	T	A	7: 106,199,314 (GRCm39)		noncoding transcript	Het
Hspg2	T	A	4: 137,256,105 (GRCm39)		probably null	Het
Il1a	G	T	2: 129,149,821 (GRCm39)	D26E	possibly damaging	Het
Il22b	T	A	10: 118,130,789 (GRCm39)	I36F	probably damaging	Het
Kcna1	A	T	6: 126,620,075 (GRCm39)	F82I	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lamtor5	T	G	3: 107,189,323 (GRCm39)	C120G	probably benign	Het
Lars1	A	G	18: 42,384,363 (GRCm39)	C72R	possibly damaging	Het
Lrrfip1	T	G	1: 91,014,848 (GRCm39)		probably null	Het
Mapkapk3	T	C	9: 107,133,491 (GRCm39)	D349G	probably damaging	Het
Mknk2	A	T	10: 80,503,059 (GRCm39)	I421N	probably benign	Het
Myh6	A	G	14: 55,191,381 (GRCm39)	I820T	probably benign	Het
Notch2	T	G	3: 98,033,450 (GRCm39)	V1182G	probably damaging	Het
Or1af1	T	G	2: 37,109,684 (GRCm39)	F61C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2z2	C	T	11: 58,346,680 (GRCm39)	V32M	probably damaging	Het
Ppfia4	A	T	1: 134,245,632 (GRCm39)	S641T	probably damaging	Het
Prok1	T	A	3: 107,146,949 (GRCm39)	H6L	probably benign	Het
Ptprm	A	T	17: 67,000,468 (GRCm39)	V1172E	probably damaging	Het
Rasal3	C	T	17: 32,612,575 (GRCm39)	R762Q	probably benign	Het
Rgs20	G	T	1: 5,140,333 (GRCm39)	A23E	possibly damaging	Het
Rprd1a	T	C	18: 24,640,288 (GRCm39)	T163A	probably benign	Het
Rrm1	A	T	7: 102,114,974 (GRCm39)	N37I	probably damaging	Het
Shc4	T	A	2: 125,481,350 (GRCm39)	E520V	probably damaging	Het
Slc14a2	G	T	18: 78,252,143 (GRCm39)	P56Q	probably damaging	Het
Slc22a3	C	T	17: 12,677,377 (GRCm39)	G264S	probably damaging	Het
Svil	A	G	18: 5,059,294 (GRCm39)	E770G	probably damaging	Het
Svop	A	G	5: 114,198,186 (GRCm39)	V129A	probably damaging	Het
Szt2	A	T	4: 118,232,663 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,951,105 (GRCm39)		probably benign	Het
Vmn2r16	G	T	5: 109,511,708 (GRCm39)	L638F	probably damaging	Het
Xkr7	T	A	2: 152,896,244 (GRCm39)	I366N	probably damaging	Het
Zer1	A	G	2: 29,990,998 (GRCm39)		probably benign	Het

Other mutations in Tmem30a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Tmem30a	APN	9	79,682,382 (GRCm39)	critical splice donor site	probably null
IGL01701:Tmem30a	APN	9	79,681,461 (GRCm39)	missense	probably damaging	1.00
IGL02043:Tmem30a	APN	9	79,681,371 (GRCm39)	splice site	probably benign
IGL02319:Tmem30a	APN	9	79,681,485 (GRCm39)	missense	probably damaging	1.00
IGL02629:Tmem30a	APN	9	79,683,531 (GRCm39)	splice site	probably benign
IGL02983:Tmem30a	APN	9	79,678,725 (GRCm39)	missense	possibly damaging	0.90
Imbroglio	UTSW	9	79,681,547 (GRCm39)	nonsense	probably null
ladyfinger	UTSW	9	79,681,494 (GRCm39)	missense	probably damaging	1.00
R0085:Tmem30a	UTSW	9	79,678,576 (GRCm39)	missense	probably benign	0.02
R0496:Tmem30a	UTSW	9	79,684,567 (GRCm39)	missense	probably damaging	1.00
R0498:Tmem30a	UTSW	9	79,681,376 (GRCm39)	nonsense	probably null
R1546:Tmem30a	UTSW	9	79,678,570 (GRCm39)	makesense	probably null
R1648:Tmem30a	UTSW	9	79,700,311 (GRCm39)	missense	probably damaging	1.00
R2018:Tmem30a	UTSW	9	79,681,500 (GRCm39)	missense	probably damaging	1.00
R2019:Tmem30a	UTSW	9	79,681,500 (GRCm39)	missense	probably damaging	1.00
R2259:Tmem30a	UTSW	9	79,681,446 (GRCm39)	missense	probably benign	0.13
R2260:Tmem30a	UTSW	9	79,681,446 (GRCm39)	missense	probably benign	0.13
R4491:Tmem30a	UTSW	9	79,684,567 (GRCm39)	missense	probably damaging	1.00
R4492:Tmem30a	UTSW	9	79,684,567 (GRCm39)	missense	probably damaging	1.00
R5289:Tmem30a	UTSW	9	79,683,436 (GRCm39)	missense	probably damaging	0.99
R6707:Tmem30a	UTSW	9	79,681,547 (GRCm39)	nonsense	probably null
R7662:Tmem30a	UTSW	9	79,682,513 (GRCm39)	missense	probably benign
R7732:Tmem30a	UTSW	9	79,687,826 (GRCm39)	missense	possibly damaging	0.49
R8100:Tmem30a	UTSW	9	79,681,432 (GRCm39)	missense	probably benign	0.00
R8202:Tmem30a	UTSW	9	79,681,494 (GRCm39)	missense	probably damaging	1.00
R8413:Tmem30a	UTSW	9	79,683,507 (GRCm39)	missense	probably damaging	1.00
R9092:Tmem30a	UTSW	9	79,678,581 (GRCm39)	missense	probably damaging	0.96
R9621:Tmem30a	UTSW	9	79,687,926 (GRCm39)	missense	probably benign	0.30
R9760:Tmem30a	UTSW	9	79,687,874 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CCTGCCCTTTAAAATATGGATCATG -3'
(R):5'- CGATTATTTCTTTGGGAGAGAAAGG -3'

Sequencing Primer
(F):5'- GCAATCTTCAAATGTCTATAGATGCC -3'
(R):5'- TATTTCTTTGGGAGAGAAAGGAGGAC -3'

Posted On

2017-08-01