Mutagenetix > Incidental Mutation

Incidental Mutation 'R8100:Tmem30a'

630461

Institutional Source

Beutler Lab

Gene Symbol

Tmem30a

Ensembl Gene

ENSMUSG00000032328

Gene Name

transmembrane protein 30A

Synonyms

Cdc50a, 2010200I23Rik, D9Wsu20e

MMRRC Submission

067532-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8100 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79676223-79700712 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79681432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 282 (R282G)

Ref Sequence

ENSEMBL: ENSMUSP00000034878 (fasta)

Gene Model

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

AlphaFold

Q8VEK0

Predicted Effect

probably benign
Transcript: ENSMUST00000034878
AA Change: R282G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000034878
Gene: ENSMUSG00000032328
AA Change: R282G

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
AA Change: R246G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114042
Gene: ENSMUSG00000032328
AA Change: R246G

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	A	14: 56,009,722 (GRCm39)	Q777*	probably null	Het
Art1	T	C	7: 101,756,405 (GRCm39)	S199P	probably damaging	Het
Cadps2	A	T	6: 23,838,808 (GRCm39)	M110K	probably damaging	Het
Cdk13	C	T	13: 17,978,101 (GRCm39)	R379Q	unknown	Het
Cdk7	T	C	13: 100,842,925 (GRCm39)	I272V	probably benign	Het
Cep350	T	C	1: 155,829,148 (GRCm39)	D192G	probably damaging	Het
Chrna6	C	T	8: 27,903,844 (GRCm39)		probably benign	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Ckmt1	T	A	2: 121,191,258 (GRCm39)	D223E	probably benign	Het
Col6a5	C	T	9: 105,755,839 (GRCm39)	R2195H	probably damaging	Het
D430041D05Rik	C	T	2: 104,087,287 (GRCm39)	R563H	probably benign	Het
Defa29	A	T	8: 21,816,990 (GRCm39)	M1K	probably null	Het
Dnah11	A	G	12: 117,930,368 (GRCm39)	S3326P	probably damaging	Het
Dsg3	A	G	18: 20,662,028 (GRCm39)	D431G	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Fbln1	T	A	15: 85,169,357 (GRCm39)	F699I	probably damaging	Het
Fndc1	A	G	17: 7,990,685 (GRCm39)	S1004P	unknown	Het
Gpr15	T	A	16: 58,538,076 (GRCm39)	T338S	probably benign	Het
Grin2d	T	C	7: 45,483,171 (GRCm39)	Y1002C	unknown	Het
Hk2	C	T	6: 82,707,859 (GRCm39)	M703I	probably benign	Het
Ifi213	A	C	1: 173,422,748 (GRCm39)	L39R	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lama2	C	A	10: 26,917,113 (GRCm39)	A2271S	probably benign	Het
Lmo7	A	T	14: 102,137,899 (GRCm39)	Q867L	probably benign	Het
Loxhd1	T	A	18: 77,492,512 (GRCm39)	S1427T	possibly damaging	Het
Lzts1	A	G	8: 69,593,397 (GRCm39)	V70A	probably damaging	Het
Mocs3	A	G	2: 168,073,257 (GRCm39)	T235A	possibly damaging	Het
Myo15a	G	A	11: 60,408,016 (GRCm39)	R3168H	probably damaging	Het
Ndc1	A	G	4: 107,240,802 (GRCm39)	D260G	possibly damaging	Het
Nfam1	T	C	15: 82,900,730 (GRCm39)	D44G	probably damaging	Het
Or4a47	G	A	2: 89,666,029 (GRCm39)	Q87*	probably null	Het
Osbpl10	G	A	9: 114,996,322 (GRCm39)	R128H	probably benign	Het
Otx1	C	A	11: 21,949,392 (GRCm39)	V29L	probably benign	Het
Pogk	A	T	1: 166,229,511 (GRCm39)	D113E	possibly damaging	Het
Ptgs2	T	C	1: 149,978,472 (GRCm39)	F195L	probably damaging	Het
Ptpn21	T	A	12: 98,648,881 (GRCm39)	E925V	possibly damaging	Het
Ranbp2	T	C	10: 58,326,470 (GRCm39)	F2714L	possibly damaging	Het
Rbm20	T	G	19: 53,839,744 (GRCm39)	I911S	possibly damaging	Het
Rwdd2b	A	G	16: 87,233,509 (GRCm39)	V197A	possibly damaging	Het
Sel1l2	C	G	2: 140,117,329 (GRCm39)	A181P	probably damaging	Het
Sf1	A	G	19: 6,422,368 (GRCm39)	E234G	possibly damaging	Het
Skint2	A	C	4: 112,483,197 (GRCm39)	T201P	probably damaging	Het
Sra1	C	T	18: 36,809,948 (GRCm39)	R199H	probably damaging	Het
Svs5	A	G	2: 164,079,712 (GRCm39)	M65T	probably benign	Het
Tgif1	C	A	17: 71,153,544 (GRCm39)		probably benign	Het
Tmem184c	A	G	8: 78,331,411 (GRCm39)	W113R	possibly damaging	Het
Top1	T	A	2: 160,540,155 (GRCm39)	Y244*	probably null	Het
Trank1	A	G	9: 111,221,861 (GRCm39)	Y2866C	probably damaging	Het
Trim7	A	C	11: 48,740,346 (GRCm39)	I148L	probably damaging	Het
Triml1	T	A	8: 43,591,717 (GRCm39)	M214L	probably benign	Het
Usp30	T	G	5: 114,249,245 (GRCm39)	V183G	probably damaging	Het
Vmn1r175	G	A	7: 23,508,012 (GRCm39)	S205F	probably damaging	Het
Zbtb32	CTTG	CTTGTTG	7: 30,290,946 (GRCm39)		probably benign	Het
Zfp108	T	A	7: 23,960,602 (GRCm39)	C398S	probably damaging	Het
Zfp592	T	G	7: 80,673,940 (GRCm39)	D301E	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R5433:Tmem30a	UTSW	9	79,687,930 (GRCm39)	missense	probably damaging	0.98
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
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'- GAGACCCTACATGAATCTAGAGCAC -3'
(R):5'- TGACGTAATCTACCTTTCCTCAGG -3'

Sequencing Primer
(F):5'- GAATCTAGAGCACAAAGTAACATGTC -3'
(R):5'- AAGGAAATATTCAGATTGTTTTGTGC -3'

Posted On

2020-06-30