Mutagenetix > Incidental Mutation

Incidental Mutation 'R7934:Trim30a'

648620

Institutional Source

Beutler Lab

Gene Symbol

Trim30a

Ensembl Gene

ENSMUSG00000030921

Gene Name

tripartite motif-containing 30A

Synonyms

Rpt-1, Rpt1, Trim30

MMRRC Submission

045980-MU

Accession Numbers

Essential gene?

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

Stock #

R7934 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104058232-104114400 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104061448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 282 (L282Q)

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: L282Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076189
Gene: ENSMUSG00000030921
AA Change: L282Q

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: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,349,770 (GRCm39)	A93V	probably benign	Het
Abca8b	G	A	11: 109,865,865 (GRCm39)	T296I	possibly damaging	Het
Adamtsl1	A	C	4: 86,161,962 (GRCm39)	Y365S	probably damaging	Het
Ambp	T	A	4: 63,067,677 (GRCm39)	I178F	probably damaging	Het
Ankle1	T	C	8: 71,858,899 (GRCm39)	V44A	possibly damaging	Het
Arhgef2	A	G	3: 88,537,221 (GRCm39)	E37G	probably damaging	Het
Atp2a2	A	G	5: 122,599,639 (GRCm39)	I584T	probably benign	Het
Ccdc171	T	A	4: 83,614,492 (GRCm39)	L1031*	probably null	Het
Cdh17	T	A	4: 11,799,754 (GRCm39)		probably null	Het
Cdip1	T	C	16: 4,586,422 (GRCm39)	T203A	probably benign	Het
Ceacam1	C	T	7: 25,163,220 (GRCm39)	V338I	possibly damaging	Het
Cep78	G	A	19: 15,933,754 (GRCm39)	T608I	probably damaging	Het
Ces3a	T	A	8: 105,775,345 (GRCm39)		probably null	Het
Cfap210	G	A	2: 69,612,450 (GRCm39)	Q97*	probably null	Het
Chd7	A	G	4: 8,854,121 (GRCm39)	T1898A	probably benign	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Creb1	G	A	1: 64,609,372 (GRCm39)	A108T	probably benign	Het
Ctnna3	A	T	10: 64,421,747 (GRCm39)	I514F	probably damaging	Het
Cyp2c55	T	C	19: 39,030,535 (GRCm39)	F456L	probably damaging	Het
Cyp2d40	A	G	15: 82,648,212 (GRCm39)	S34P	probably damaging	Het
Cyp2g1	A	T	7: 26,518,618 (GRCm39)	T378S	probably damaging	Het
Eif2b3	C	A	4: 116,923,675 (GRCm39)	Q297K	probably benign	Het
Fbll1	T	C	11: 35,689,048 (GRCm39)	N72D	unknown	Het
Fev	C	G	1: 74,921,632 (GRCm39)	R106P	probably damaging	Het
Gal3st1	A	G	11: 3,948,405 (GRCm39)	Y204C	probably damaging	Het
Gm15130	A	T	2: 110,964,582 (GRCm39)	L180Q		Het
Greb1l	A	T	18: 10,474,371 (GRCm39)	K229*	probably null	Het
Haghl	G	T	17: 26,002,519 (GRCm39)	T214K	probably damaging	Het
Hivep1	A	G	13: 42,308,174 (GRCm39)	H138R	probably benign	Het
Ighv1-53	G	T	12: 115,122,236 (GRCm39)	Y46*	probably null	Het
Igsf21	T	C	4: 139,761,755 (GRCm39)	T308A	possibly damaging	Het
Kcnb1	A	G	2: 166,946,536 (GRCm39)	S771P	probably benign	Het
Kndc1	T	A	7: 139,501,402 (GRCm39)	M897K	probably benign	Het
Macf1	T	C	4: 123,367,727 (GRCm39)	M2345V	possibly damaging	Het
Mettl2	T	C	11: 105,019,773 (GRCm39)	S137P	probably benign	Het
Mrpl15	A	G	1: 4,844,725 (GRCm39)	S189P	probably benign	Het
Ndrg2	T	C	14: 52,143,661 (GRCm39)	Q351R	probably benign	Het
Nox4	A	G	7: 86,945,032 (GRCm39)	N65S	probably damaging	Het
Or1n1	A	G	2: 36,750,228 (GRCm39)	I44T	possibly damaging	Het
Or1p1b	C	T	11: 74,131,326 (GRCm39)	S312F	probably benign	Het
Osbpl11	T	A	16: 33,056,752 (GRCm39)	W729R	probably damaging	Het
Oxct2b	C	A	4: 123,010,447 (GRCm39)	C122*	probably null	Het
Pdcl3	A	T	1: 39,026,782 (GRCm39)		probably benign	Het
Plcg1	A	G	2: 160,616,498 (GRCm39)	H1294R	possibly damaging	Het
Pnp2	C	A	14: 51,201,903 (GRCm39)	S296R	probably benign	Het
Ppp1r12c	G	A	7: 4,488,416 (GRCm39)	Q337*	probably null	Het
Prr23a4	A	G	9: 98,785,880 (GRCm39)	R182G	possibly damaging	Het
Ranbp2	G	A	10: 58,312,297 (GRCm39)	V1006I	probably damaging	Het
Rxrg	A	G	1: 167,454,927 (GRCm39)	D170G	probably damaging	Het
Sf3b3	T	C	8: 111,548,162 (GRCm39)	T691A	probably benign	Het
Slc1a4	A	G	11: 20,258,518 (GRCm39)	I307T	probably damaging	Het
Slc4a8	G	A	15: 100,685,173 (GRCm39)	V235I	probably damaging	Het
Srgap3	T	A	6: 112,708,450 (GRCm39)	I750F	probably damaging	Het
Tshr	A	G	12: 91,478,702 (GRCm39)	K183R	possibly damaging	Het
Usp38	A	T	8: 81,711,077 (GRCm39)	L986Q	probably damaging	Het
Vmn1r257	T	A	7: 22,391,439 (GRCm39)	T102S	possibly damaging	Het
Vps18	A	G	2: 119,124,122 (GRCm39)	T350A	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zbtb37	A	T	1: 160,857,305 (GRCm39)	S312R	probably damaging	Het
Zeb1	A	G	18: 5,748,703 (GRCm39)	N90S	probably benign	Het
Zfp715	A	T	7: 42,949,308 (GRCm39)	Y217*	probably null	Het
Zfp9	T	C	6: 118,441,847 (GRCm39)	T272A	probably damaging	Het
Zfp943	T	A	17: 22,212,361 (GRCm39)	H482Q	probably damaging	Het
Zfp971	A	T	2: 177,675,173 (GRCm39)	K257N	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
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
R8825:Trim30a	UTSW	7	104,060,529 (GRCm39)	nonsense	probably null
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'- TCTCCAGATGAGGGGAAAGTTTAG -3'
(R):5'- TCTCAGGGGAGTTCAAGGTAATC -3'

Sequencing Primer
(F):5'- GGGATAAATGATGATTTCCCACCAC -3'
(R):5'- TCTATGGTTAGAATGACAGGGAGTC -3'

Posted On

2020-09-15