Mutagenetix > Incidental Mutation

Incidental Mutation 'R7739:Trim30a'

596425

Institutional Source

Beutler Lab

Gene Symbol

Trim30a

Ensembl Gene

ENSMUSG00000030921

Gene Name

tripartite motif-containing 30A

Synonyms

Rpt-1, Rpt1, Trim30

MMRRC Submission

045795-MU

Accession Numbers

Essential gene?

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

Stock #

R7739 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104058232-104114400 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104079386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 156 (I156M)

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

possibly damaging
Transcript: ENSMUST00000076922
AA Change: I156M

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076189
Gene: ENSMUSG00000030921
AA Change: I156M

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: 98.8%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 57,885,875 (GRCm39)	A336S	probably benign	Het
Abca8b	A	G	11: 109,865,417 (GRCm39)	S347P	probably benign	Het
Acvr1	T	C	2: 58,352,983 (GRCm39)	T326A	possibly damaging	Het
Atp13a4	A	G	16: 29,275,419 (GRCm39)	I355T		Het
Atp2a2	G	A	5: 122,607,768 (GRCm39)	T247I	probably damaging	Het
Atp2b1	T	A	10: 98,837,227 (GRCm39)	D555E	probably benign	Het
Aurkb	G	T	11: 68,939,058 (GRCm39)	G94*	probably null	Het
B130006D01Rik	A	T	11: 95,616,986 (GRCm39)	H37L	unknown	Het
Cabin1	A	G	10: 75,494,492 (GRCm39)	L1629P	probably damaging	Het
Ccdc168	G	A	1: 44,095,578 (GRCm39)	T1840I	possibly damaging	Het
Ccdc80	A	C	16: 44,916,186 (GRCm39)	D314A	probably benign	Het
Cdc42bpg	T	A	19: 6,360,845 (GRCm39)	I201N	probably damaging	Het
Chd9	T	C	8: 91,761,653 (GRCm39)	L2246P	probably damaging	Het
Cpsf1	T	A	15: 76,484,511 (GRCm39)	M657L	probably benign	Het
Dmtf1	A	G	5: 9,190,453 (GRCm39)	V87A	probably damaging	Het
Drd5	G	T	5: 38,477,421 (GRCm39)	W138L	probably damaging	Het
Dspp	G	A	5: 104,326,012 (GRCm39)	D792N	unknown	Het
Fat2	C	A	11: 55,171,957 (GRCm39)	E2919*	probably null	Het
Fgf20	A	G	8: 40,732,937 (GRCm39)	V167A	probably damaging	Het
Grm5	T	C	7: 87,779,266 (GRCm39)	V934A	possibly damaging	Het
Gtf3c3	G	T	1: 54,444,198 (GRCm39)	A730D	possibly damaging	Het
H2-T24	A	G	17: 36,325,483 (GRCm39)	V335A	probably benign	Het
Havcr2	T	G	11: 46,347,384 (GRCm39)	N120K	probably damaging	Het
Hmcn2	T	C	2: 31,348,038 (GRCm39)	F4895L	possibly damaging	Het
Igsf3	T	C	3: 101,342,847 (GRCm39)	Y475H	probably damaging	Het
Lonp1	T	C	17: 56,933,620 (GRCm39)	D85G	probably benign	Het
Lrrc49	T	C	9: 60,500,975 (GRCm39)	S657G	probably benign	Het
Lrrk2	T	A	15: 91,584,816 (GRCm39)	Y382N	probably damaging	Het
Macf1	T	C	4: 123,279,391 (GRCm39)	D3870G	probably damaging	Het
Mtf1	T	A	4: 124,718,081 (GRCm39)	C260S	probably damaging	Het
Naa35	A	G	13: 59,747,598 (GRCm39)	D110G	probably damaging	Het
Npas3	A	T	12: 54,115,501 (GRCm39)	T808S	probably damaging	Het
Or5a1	A	G	19: 12,097,909 (GRCm39)	W56R	probably damaging	Het
Pax9	A	T	12: 56,746,884 (GRCm39)	H240L	probably benign	Het
Pik3c2a	T	C	7: 115,993,529 (GRCm39)	T413A	probably benign	Het
Pik3r1	A	G	13: 101,846,205 (GRCm39)	V127A	probably benign	Het
Pik3r5	A	G	11: 68,381,324 (GRCm39)	E170G	probably damaging	Het
Polr1a	T	C	6: 71,931,819 (GRCm39)	I966T	possibly damaging	Het
Prelid2	A	G	18: 42,045,433 (GRCm39)		probably null	Het
Rab29	T	A	1: 131,799,923 (GRCm39)	M166K	probably damaging	Het
Rab2b	T	C	14: 52,503,717 (GRCm39)	E135G	probably damaging	Het
Rnf103	T	A	6: 71,486,463 (GRCm39)	S365T	possibly damaging	Het
Rnf213	G	A	11: 119,301,687 (GRCm39)	E387K		Het
Sh3d19	T	C	3: 86,031,038 (GRCm39)	V734A	probably benign	Het
Spata31e5	T	A	1: 28,816,689 (GRCm39)	T448S	possibly damaging	Het
Spmip3	T	A	1: 177,570,828 (GRCm39)	I54K	probably damaging	Het
Ssbp1	T	G	6: 40,454,914 (GRCm39)	N124K	probably damaging	Het
Tbc1d31	C	T	15: 57,799,494 (GRCm39)	R227*	probably null	Het
Tcerg1	A	G	18: 42,657,039 (GRCm39)	T174A	unknown	Het
Tenm2	T	C	11: 35,960,388 (GRCm39)	S980G	possibly damaging	Het
Trim39	T	C	17: 36,571,396 (GRCm39)	D454G	possibly damaging	Het
Trpc7	A	T	13: 56,921,579 (GRCm39)	*863K	probably null	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Vmn1r33	C	T	6: 66,589,357 (GRCm39)	D66N	probably benign	Het
Vmn2r8	A	T	5: 108,950,043 (GRCm39)	I268N	probably damaging	Het
Vmn2r91	A	C	17: 18,356,080 (GRCm39)	E582D	probably benign	Het
Vtcn1	T	C	3: 100,791,211 (GRCm39)	F83S	probably damaging	Het
Wdr81	G	T	11: 75,332,811 (GRCm39)	D684E		Het
Wipi1	A	G	11: 109,470,535 (GRCm39)	S295P	probably damaging	Het
Zfp27	A	T	7: 29,593,699 (GRCm39)	H755Q	possibly damaging	Het
Zfp963	A	G	8: 70,195,533 (GRCm39)	F307L	possibly damaging	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
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
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'- AAGGCTTCTTGACCTCATCAAC -3'
(R):5'- CTACTGAGTGGGATGACTGAC -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- GGATGACTGACTAAAAGAGATTCCTC -3'

Posted On

2019-11-26