Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Trim30a'

204030

Institutional Source

Beutler Lab

Gene Symbol

Trim30a

Ensembl Gene

ENSMUSG00000030921

Gene Name

tripartite motif-containing 30A

Synonyms

Rpt-1, Rpt1, Trim30

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104409025-104465193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104411198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 457 (V457A)

Ref Sequence

ENSEMBL: ENSMUSP00000076189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076922]

AlphaFold

P15533

PDB Structure

Solution structure of the Zinc finger, C3HC4 type (RING finger) domain Tripartite motif protein 30 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000076922
AA Change: V457A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076189
Gene: ENSMUSG00000030921
AA Change: V457A

Domain	Start	End	E-Value	Type
RING	15	58	2.88e-10	SMART
BBOX	91	132	3.52e-14	SMART
coiled coil region	173	241	N/A	INTRINSIC
low complexity region	255	265	N/A	INTRINSIC
Pfam:SPRY	349	493	1.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211270

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice show increased CD4/CD8 ratio with age, an abnormal CD4+ T cell response upon TCR activation, and reduced effector function of CD4+ T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416 (GRCm38)	E565D	probably benign	Het
Adam30	A	T	3: 98,162,113 (GRCm38)	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,749,852 (GRCm38)		probably null	Het
Cacna1a	A	T	8: 84,415,930 (GRCm38)	I96F	possibly damaging	Het
Card10	G	A	15: 78,780,514 (GRCm38)	R747W	probably damaging	Het
Cdh8	T	A	8: 99,190,394 (GRCm38)	D363V	probably damaging	Het
Cecr2	T	C	6: 120,757,941 (GRCm38)	Y685H	probably damaging	Het
Cmklr1	T	C	5: 113,614,407 (GRCm38)	T178A	probably damaging	Het
Col16a1	G	A	4: 130,092,782 (GRCm38)		probably null	Het
Col4a1	C	T	8: 11,226,439 (GRCm38)		probably benign	Het
Coro2a	T	A	4: 46,548,797 (GRCm38)	I166F	possibly damaging	Het
Cry2	T	C	2: 92,424,566 (GRCm38)	H148R	probably damaging	Het
Crygd	T	C	1: 65,061,974 (GRCm38)	Y154C	probably benign	Het
Cubn	T	C	2: 13,308,561 (GRCm38)	Y3066C	probably damaging	Het
Defb15	C	T	8: 21,929,986 (GRCm38)	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,697,398 (GRCm38)	D147G	probably benign	Het
Dnah12	A	T	14: 26,709,257 (GRCm38)	Y340F	probably benign	Het
Dot1l	G	T	10: 80,783,539 (GRCm38)	R193L	probably damaging	Het
Dupd1	A	G	14: 21,686,689 (GRCm38)	V115A	probably benign	Het
Esd	A	C	14: 74,742,074 (GRCm38)	Y119S	probably damaging	Het
Esp36	A	G	17: 38,419,439 (GRCm38)		probably benign	Het
Etfbkmt	T	A	6: 149,144,151 (GRCm38)	M1K	probably null	Het
Exph5	A	G	9: 53,376,248 (GRCm38)	H1543R	probably benign	Het
Fam92a	C	T	4: 12,155,717 (GRCm38)	V306I	possibly damaging	Het
Fbxo16	A	G	14: 65,270,803 (GRCm38)	T23A	probably damaging	Het
Gm11492	A	G	11: 87,567,235 (GRCm38)	H145R	possibly damaging	Het
Gm6614	T	C	6: 142,003,423 (GRCm38)	M76V	possibly damaging	Het
Gorasp2	C	A	2: 70,679,464 (GRCm38)	H136Q	probably damaging	Het
Hdc	T	A	2: 126,597,933 (GRCm38)	I367F	probably benign	Het
Hmcn1	C	T	1: 150,638,900 (GRCm38)	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,584,124 (GRCm38)	D592G	probably benign	Het
Inmt	G	A	6: 55,174,883 (GRCm38)	A34V	probably damaging	Het
Ints9	A	C	14: 65,026,413 (GRCm38)	H378P	probably benign	Het
Kcnh7	T	A	2: 62,787,754 (GRCm38)	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,425,330 (GRCm38)	V259D	probably damaging	Het
Lipo1	A	G	19: 33,784,692 (GRCm38)	F135S	probably damaging	Het
Lrba	T	C	3: 86,773,203 (GRCm38)		probably null	Het
Mapk1	T	A	16: 17,026,429 (GRCm38)	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,444,921 (GRCm38)	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,459,969 (GRCm38)	P554L	probably damaging	Het
Mki67	T	C	7: 135,699,361 (GRCm38)	T1315A	probably benign	Het
Mprip	C	T	11: 59,758,221 (GRCm38)	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,185,988 (GRCm38)	I688F	probably benign	Het
Myo1d	A	T	11: 80,663,048 (GRCm38)	Y536N	probably damaging	Het
Neb	C	T	2: 52,162,187 (GRCm38)		probably null	Het
Noc2l	A	G	4: 156,237,708 (GRCm38)	R161G	probably benign	Het
Nup54	T	A	5: 92,419,567 (GRCm38)	I375L	possibly damaging	Het
Nup93	T	C	8: 94,306,102 (GRCm38)	F539L	probably damaging	Het
Olfr138	A	G	17: 38,275,344 (GRCm38)	E191G	probably damaging	Het
Olfr417	T	A	1: 174,369,452 (GRCm38)	H178Q	probably damaging	Het
Olfr480	A	C	7: 108,066,725 (GRCm38)	Y24*	probably null	Het
Olfr874	T	A	9: 37,746,968 (GRCm38)	M278K	probably benign	Het
Panx1	A	T	9: 15,007,428 (GRCm38)	D378E	probably damaging	Het
Papss1	T	A	3: 131,583,184 (GRCm38)	V170D	possibly damaging	Het
Pcnx	T	C	12: 81,918,732 (GRCm38)	S558P	probably damaging	Het
Pde3a	T	A	6: 141,250,353 (GRCm38)	I255N	probably damaging	Het
Pde3a	G	T	6: 141,487,513 (GRCm38)	A757S	probably damaging	Het
Pdzph1	A	G	17: 58,922,583 (GRCm38)	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,551,020 (GRCm38)	R805S	probably benign	Het
Polr1a	G	A	6: 71,909,203 (GRCm38)	G14D	probably damaging	Het
Prg4	T	A	1: 150,460,669 (GRCm38)	D60V	probably damaging	Het
Ptprc	T	C	1: 138,112,227 (GRCm38)	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,842,209 (GRCm38)	R205K	probably benign	Het
Rcan2	A	T	17: 44,037,089 (GRCm38)		probably null	Het
Rock1	A	G	18: 10,079,207 (GRCm38)	I1087T	probably damaging	Het
Sectm1b	A	G	11: 121,054,942 (GRCm38)	I191T	possibly damaging	Het
Setd1b	T	C	5: 123,147,613 (GRCm38)	S241P	unknown	Het
Srpk2	T	C	5: 23,524,150 (GRCm38)	K497R	probably benign	Het
Sspo	T	C	6: 48,491,006 (GRCm38)	S4296P	probably damaging	Het
Syne4	T	C	7: 30,316,883 (GRCm38)	V168A	probably benign	Het
Tank	T	C	2: 61,649,912 (GRCm38)	F264S	probably damaging	Het
Ticrr	T	C	7: 79,695,207 (GRCm38)	S1607P	probably damaging	Het
Trim43b	T	A	9: 89,085,571 (GRCm38)	K336N	probably damaging	Het
Trim47	T	C	11: 116,106,137 (GRCm38)	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,023 (GRCm38)	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607 (GRCm38)	S231P	probably benign	Het
Vit	A	G	17: 78,622,746 (GRCm38)	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521 (GRCm38)	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 10,173,406 (GRCm38)	C131Y	possibly damaging	Het
Zadh2	T	C	18: 84,095,318 (GRCm38)	V373A	possibly damaging	Het
Zfp58	A	T	13: 67,491,188 (GRCm38)	F395I	probably damaging	Het
Zfp940	C	A	7: 29,845,010 (GRCm38)	G491C	probably damaging	Het

Other mutations in Trim30a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02677:Trim30a	APN	7	104,435,913 (GRCm38)	missense	probably damaging	1.00
IGL02944:Trim30a	APN	7	104,435,777 (GRCm38)	missense	probably benign	0.19
IGL03135:Trim30a	APN	7	104,411,141 (GRCm38)	missense	probably damaging	0.98
BB009:Trim30a	UTSW	7	104,429,338 (GRCm38)	missense	probably benign	0.00
BB019:Trim30a	UTSW	7	104,429,338 (GRCm38)	missense	probably benign	0.00
R0049:Trim30a	UTSW	7	104,429,352 (GRCm38)	critical splice acceptor site	probably null
R0049:Trim30a	UTSW	7	104,429,352 (GRCm38)	critical splice acceptor site	probably null
R0682:Trim30a	UTSW	7	104,429,182 (GRCm38)	missense	probably damaging	1.00
R1773:Trim30a	UTSW	7	104,435,901 (GRCm38)	missense	probably damaging	1.00
R1872:Trim30a	UTSW	7	104,429,210 (GRCm38)	missense	probably benign	0.01
R1986:Trim30a	UTSW	7	104,411,465 (GRCm38)	missense	probably damaging	1.00
R1991:Trim30a	UTSW	7	104,430,230 (GRCm38)	splice site	probably benign
R2259:Trim30a	UTSW	7	104,411,504 (GRCm38)	missense	probably damaging	1.00
R2571:Trim30a	UTSW	7	104,429,326 (GRCm38)	missense	possibly damaging	0.93
R3719:Trim30a	UTSW	7	104,411,163 (GRCm38)	missense	probably benign	0.00
R3880:Trim30a	UTSW	7	104,411,189 (GRCm38)	missense	probably benign
R3910:Trim30a	UTSW	7	104,411,141 (GRCm38)	missense	probably damaging	0.98
R3911:Trim30a	UTSW	7	104,411,141 (GRCm38)	missense	probably damaging	0.98
R3912:Trim30a	UTSW	7	104,411,141 (GRCm38)	missense	probably damaging	0.98
R4343:Trim30a	UTSW	7	104,435,592 (GRCm38)	missense	probably benign	0.00
R4572:Trim30a	UTSW	7	104,411,188 (GRCm38)	nonsense	probably null
R4587:Trim30a	UTSW	7	104,435,644 (GRCm38)	nonsense	probably null
R4997:Trim30a	UTSW	7	104,411,620 (GRCm38)	missense	probably benign	0.21
R5051:Trim30a	UTSW	7	104,411,706 (GRCm38)	intron	probably benign
R5414:Trim30a	UTSW	7	104,411,141 (GRCm38)	missense	probably damaging	1.00
R5613:Trim30a	UTSW	7	104,430,182 (GRCm38)	missense	probably damaging	1.00
R5930:Trim30a	UTSW	7	104,421,450 (GRCm38)	missense	possibly damaging	0.95
R6262:Trim30a	UTSW	7	104,411,534 (GRCm38)	missense	probably benign	0.00
R7133:Trim30a	UTSW	7	104,429,326 (GRCm38)	missense	possibly damaging	0.93
R7222:Trim30a	UTSW	7	104,421,432 (GRCm38)	splice site	probably null
R7739:Trim30a	UTSW	7	104,430,179 (GRCm38)	missense	possibly damaging	0.50
R7797:Trim30a	UTSW	7	104,411,200 (GRCm38)	missense	possibly damaging	0.86
R7803:Trim30a	UTSW	7	104,411,397 (GRCm38)	nonsense	probably null
R7836:Trim30a	UTSW	7	104,435,595 (GRCm38)	missense	probably benign	0.06
R7908:Trim30a	UTSW	7	104,421,449 (GRCm38)	missense	probably benign	0.01
R7932:Trim30a	UTSW	7	104,429,338 (GRCm38)	missense	probably benign	0.00
R7934:Trim30a	UTSW	7	104,412,241 (GRCm38)	missense	probably damaging	1.00
R8240:Trim30a	UTSW	7	104,421,456 (GRCm38)	missense	probably benign	0.01
R8405:Trim30a	UTSW	7	104,411,542 (GRCm38)	nonsense	probably null
R8778:Trim30a	UTSW	7	104,411,565 (GRCm38)	missense	probably benign	0.30
R8825:Trim30a	UTSW	7	104,411,322 (GRCm38)	nonsense	probably null
R9022:Trim30a	UTSW	7	104,435,749 (GRCm38)	missense	probably benign	0.03
R9423:Trim30a	UTSW	7	104,429,203 (GRCm38)	missense	probably damaging	1.00
R9492:Trim30a	UTSW	7	104,429,123 (GRCm38)	missense	probably damaging	0.99
X0012:Trim30a	UTSW	7	104,430,203 (GRCm38)	nonsense	probably null
Z1088:Trim30a	UTSW	7	104,435,654 (GRCm38)	missense	probably damaging	1.00
Z1177:Trim30a	UTSW	7	104,411,463 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGCATAAGATACACCAGACATG -3'
(R):5'- AGCCTAAATGTGGCTACTGGG -3'

Sequencing Primer
(F):5'- CAGACATGGGGGCACTG -3'
(R):5'- CCTAAATGTGGCTACTGGGTTATAG -3'

Posted On

2014-06-23