Mutagenetix > Incidental Mutation

Incidental Mutation 'R8825:Trim30a'

673385

Institutional Source

Beutler Lab

Gene Symbol

Trim30a

Ensembl Gene

ENSMUSG00000030921

Gene Name

tripartite motif-containing 30A

Synonyms

Rpt-1, Rpt1, Trim30

MMRRC Submission

068728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8825 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104058232-104114400 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 104060529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 416 (K416*)

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 null
Transcript: ENSMUST00000076922
AA Change: K416*

SMART Domains

Protein: ENSMUSP00000076189
Gene: ENSMUSG00000030921
AA Change: K416*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap2	T	A	2: 91,103,906 (GRCm39)	L334Q	probably damaging	Het
Arhgef18	T	A	8: 3,436,951 (GRCm39)	L247Q	probably damaging	Het
Birc6	T	A	17: 74,920,500 (GRCm39)	C2100S	probably damaging	Het
Bpi	A	G	2: 158,109,670 (GRCm39)	D206G	probably benign	Het
C6	T	C	15: 4,761,170 (GRCm39)	I10T	possibly damaging	Het
Cactin	A	G	10: 81,161,492 (GRCm39)	T675A	probably damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Cdkal1	C	T	13: 29,538,777 (GRCm39)	V461I	probably benign	Het
Ces2g	C	T	8: 105,693,954 (GRCm39)	S430F	probably benign	Het
Clcn3	A	T	8: 61,382,522 (GRCm39)	H382Q	probably damaging	Het
Crem	A	T	18: 3,268,061 (GRCm39)	V89E	probably damaging	Het
Crtc2	T	A	3: 90,166,463 (GRCm39)	M146K	probably benign	Het
Depdc1b	T	G	13: 108,521,316 (GRCm39)	D374E	possibly damaging	Het
Dgkg	T	A	16: 22,381,519 (GRCm39)	H477L	probably benign	Het
Dnhd1	T	A	7: 105,343,174 (GRCm39)	V1506D	possibly damaging	Het
Erfl	A	G	7: 24,628,682 (GRCm39)	V60A	possibly damaging	Het
Exosc10	G	A	4: 148,653,159 (GRCm39)		probably null	Het
Fem1al	T	C	11: 29,773,696 (GRCm39)	E587G	probably benign	Het
Flnb	G	T	14: 7,887,566 (GRCm38)	G459C	probably damaging	Het
Golgb1	A	G	16: 36,739,809 (GRCm39)	D2757G	probably benign	Het
Gsta4	T	G	9: 78,116,121 (GRCm39)		probably benign	Het
Herc2	T	A	7: 55,700,626 (GRCm39)	M1K	probably null	Het
Hip1	C	T	5: 135,450,976 (GRCm39)	V879M	probably damaging	Het
Htt	T	C	5: 34,983,304 (GRCm39)	Y968H	probably benign	Het
Ints11	T	A	4: 155,969,587 (GRCm39)	Y154*	probably null	Het
Itih5	A	G	2: 10,195,231 (GRCm39)	S208G	probably benign	Het
Lamb2	C	T	9: 108,362,460 (GRCm39)	T701I	probably benign	Het
Lgals3	T	A	14: 47,617,557 (GRCm39)	Y22*	probably null	Het
Macc1	T	A	12: 119,409,587 (GRCm39)	D118E	probably benign	Het
Mad2l2	T	C	4: 148,225,277 (GRCm39)	L9P	probably damaging	Het
Mark2	T	C	19: 7,318,571 (GRCm39)	T6A	probably benign	Het
Mcat	T	C	15: 83,436,812 (GRCm39)	N143S	probably benign	Het
Med10	T	G	13: 69,962,046 (GRCm39)	C144G	unknown	Het
Miga1	A	T	3: 151,982,460 (GRCm39)	F539I	probably damaging	Het
Mon2	A	T	10: 122,849,776 (GRCm39)	S1174T	probably benign	Het
Mycbp2	C	A	14: 103,466,871 (GRCm39)	W1330C	probably damaging	Het
Myo5b	T	C	18: 74,892,169 (GRCm39)	S1612P	possibly damaging	Het
Nipal4	T	C	11: 46,052,873 (GRCm39)	I31V	probably benign	Het
Obox3	A	T	7: 15,361,226 (GRCm39)	V13E	possibly damaging	Het
Or2ag19	A	T	7: 106,444,636 (GRCm39)	I273F	probably damaging	Het
Or8g4	T	C	9: 39,661,994 (GRCm39)	F104S	probably damaging	Het
Ppic	A	G	18: 53,542,222 (GRCm39)	V162A	probably damaging	Het
Prkg2	T	C	5: 99,090,043 (GRCm39)	K699R	probably benign	Het
Prl2c2	T	A	13: 13,179,656 (GRCm39)	L6F	possibly damaging	Het
Rnf148	G	C	6: 23,654,378 (GRCm39)	S206C	probably benign	Het
Sec16a	A	G	2: 26,313,586 (GRCm39)	S474P		Het
Sema5a	T	G	15: 32,689,498 (GRCm39)	H1054Q	probably benign	Het
Slc6a18	C	A	13: 73,813,751 (GRCm39)	V521F	probably null	Het
Stat2	T	A	10: 128,127,233 (GRCm39)	D921E	possibly damaging	Het
Tcf24	G	T	1: 10,031,224 (GRCm39)	N42K	unknown	Het
Tgfb2	T	A	1: 186,361,136 (GRCm39)	N372Y	probably damaging	Het
Tktl2	A	C	8: 66,966,319 (GRCm39)	M626L	possibly damaging	Het
Tmem94	A	G	11: 115,688,201 (GRCm39)	D1220G	probably benign	Het
Trcg1	A	G	9: 57,148,754 (GRCm39)	T109A	probably benign	Het
Trpm5	T	C	7: 142,636,753 (GRCm39)	K395E	possibly damaging	Het
Ufm1	T	A	3: 53,771,093 (GRCm39)		probably null	Het
Unc13b	T	A	4: 43,237,683 (GRCm39)		probably benign	Het
Vmn2r16	T	C	5: 109,487,019 (GRCm39)	V80A	probably benign	Het
Vmn2r77	A	T	7: 86,452,855 (GRCm39)	Y524F	probably benign	Het
Zfp1007	T	G	5: 109,826,746 (GRCm39)	T5P	probably damaging	Het
Zfp64	T	C	2: 168,793,552 (GRCm39)	S65G	probably benign	Het
Zng1	A	G	19: 24,926,601 (GRCm39)	V150A	probably benign	Het

Other mutations in Trim30a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02677:Trim30a	APN	7	104,085,120 (GRCm39)	missense	probably damaging	1.00
IGL02944:Trim30a	APN	7	104,084,984 (GRCm39)	missense	probably benign	0.19
IGL03135:Trim30a	APN	7	104,060,348 (GRCm39)	missense	probably damaging	0.98
BB009:Trim30a	UTSW	7	104,078,545 (GRCm39)	missense	probably benign	0.00
BB019:Trim30a	UTSW	7	104,078,545 (GRCm39)	missense	probably benign	0.00
R0049:Trim30a	UTSW	7	104,078,559 (GRCm39)	critical splice acceptor site	probably null
R0049:Trim30a	UTSW	7	104,078,559 (GRCm39)	critical splice acceptor site	probably null
R0682:Trim30a	UTSW	7	104,078,389 (GRCm39)	missense	probably damaging	1.00
R1773:Trim30a	UTSW	7	104,085,108 (GRCm39)	missense	probably damaging	1.00
R1862:Trim30a	UTSW	7	104,060,405 (GRCm39)	missense	probably damaging	0.99
R1872:Trim30a	UTSW	7	104,078,417 (GRCm39)	missense	probably benign	0.01
R1986:Trim30a	UTSW	7	104,060,672 (GRCm39)	missense	probably damaging	1.00
R1991:Trim30a	UTSW	7	104,079,437 (GRCm39)	splice site	probably benign
R2259:Trim30a	UTSW	7	104,060,711 (GRCm39)	missense	probably damaging	1.00
R2571:Trim30a	UTSW	7	104,078,533 (GRCm39)	missense	possibly damaging	0.93
R3719:Trim30a	UTSW	7	104,060,370 (GRCm39)	missense	probably benign	0.00
R3880:Trim30a	UTSW	7	104,060,396 (GRCm39)	missense	probably benign
R3910:Trim30a	UTSW	7	104,060,348 (GRCm39)	missense	probably damaging	0.98
R3911:Trim30a	UTSW	7	104,060,348 (GRCm39)	missense	probably damaging	0.98
R3912:Trim30a	UTSW	7	104,060,348 (GRCm39)	missense	probably damaging	0.98
R4343:Trim30a	UTSW	7	104,084,799 (GRCm39)	missense	probably benign	0.00
R4572:Trim30a	UTSW	7	104,060,395 (GRCm39)	nonsense	probably null
R4587:Trim30a	UTSW	7	104,084,851 (GRCm39)	nonsense	probably null
R4997:Trim30a	UTSW	7	104,060,827 (GRCm39)	missense	probably benign	0.21
R5051:Trim30a	UTSW	7	104,060,913 (GRCm39)	intron	probably benign
R5414:Trim30a	UTSW	7	104,060,348 (GRCm39)	missense	probably damaging	1.00
R5613:Trim30a	UTSW	7	104,079,389 (GRCm39)	missense	probably damaging	1.00
R5930:Trim30a	UTSW	7	104,070,657 (GRCm39)	missense	possibly damaging	0.95
R6262:Trim30a	UTSW	7	104,060,741 (GRCm39)	missense	probably benign	0.00
R7133:Trim30a	UTSW	7	104,078,533 (GRCm39)	missense	possibly damaging	0.93
R7222:Trim30a	UTSW	7	104,070,639 (GRCm39)	splice site	probably null
R7739:Trim30a	UTSW	7	104,079,386 (GRCm39)	missense	possibly damaging	0.50
R7797:Trim30a	UTSW	7	104,060,407 (GRCm39)	missense	possibly damaging	0.86
R7803:Trim30a	UTSW	7	104,060,604 (GRCm39)	nonsense	probably null
R7836:Trim30a	UTSW	7	104,084,802 (GRCm39)	missense	probably benign	0.06
R7908:Trim30a	UTSW	7	104,070,656 (GRCm39)	missense	probably benign	0.01
R7932:Trim30a	UTSW	7	104,078,545 (GRCm39)	missense	probably benign	0.00
R7934:Trim30a	UTSW	7	104,061,448 (GRCm39)	missense	probably damaging	1.00
R8240:Trim30a	UTSW	7	104,070,663 (GRCm39)	missense	probably benign	0.01
R8405:Trim30a	UTSW	7	104,060,749 (GRCm39)	nonsense	probably null
R8778:Trim30a	UTSW	7	104,060,772 (GRCm39)	missense	probably benign	0.30
R9022:Trim30a	UTSW	7	104,084,956 (GRCm39)	missense	probably benign	0.03
R9423:Trim30a	UTSW	7	104,078,410 (GRCm39)	missense	probably damaging	1.00
R9492:Trim30a	UTSW	7	104,078,330 (GRCm39)	missense	probably damaging	0.99
X0012:Trim30a	UTSW	7	104,079,410 (GRCm39)	nonsense	probably null
Z1088:Trim30a	UTSW	7	104,084,861 (GRCm39)	missense	probably damaging	1.00
Z1177:Trim30a	UTSW	7	104,060,670 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGCATATAGTCATTGGCTCTGAAC -3'
(R):5'- TCTAGAAGTGATGCCTGGCTC -3'

Sequencing Primer
(F):5'- GTCATTGGCTCTGAACATTTCATAGG -3'
(R):5'- CTGGCTCCTCGGATTAAATGACG -3'

Posted On

2021-07-15