Mutagenetix > Incidental Mutation

Incidental Mutation 'R4580:Trim30d'

343591

Institutional Source

Beutler Lab

Gene Symbol

Trim30d

Ensembl Gene

ENSMUSG00000057596

Gene Name

tripartite motif-containing 30D

Synonyms

TRIM30-3, Trim79

MMRRC Submission

041599-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4580 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104119221-104157056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104121765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 327 (Y327H)

Ref Sequence

ENSEMBL: ENSMUSP00000033211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033211] [ENSMUST00000071069]

AlphaFold

E9PWL0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033211
AA Change: Y327H

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033211
Gene: ENSMUSG00000057596
AA Change: Y327H

Domain	Start	End	E-Value	Type
RING	15	58	1.72e-8	SMART
BBOX	91	132	5.25e-13	SMART
low complexity region	196	228	N/A	INTRINSIC
Pfam:SPRY	350	491	1.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071069
AA Change: Y177H

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

SMART Domains

Protein: ENSMUSP00000065020
Gene: ENSMUSG00000057596
AA Change: Y177H

Domain	Start	End	E-Value	Type
coiled coil region	23	84	N/A	INTRINSIC
Pfam:SPRY	198	346	1.1e-14	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000141063
AA Change: Y100H

SMART Domains

Protein: ENSMUSP00000115684
Gene: ENSMUSG00000057596
AA Change: Y100H

Domain	Start	End	E-Value	Type
PDB:4B3N\|B	58	197	3e-19	PDB
Blast:SPRY	122	209	4e-13	BLAST

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,237 (GRCm39)	Y114C	probably damaging	Het
Abcc2	T	C	19: 43,799,558 (GRCm39)	S556P	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp6v1g1	A	G	4: 63,468,269 (GRCm39)	N91D	probably benign	Het
BC005537	G	T	13: 24,987,394 (GRCm39)	A11S	probably benign	Het
Bltp1	A	T	3: 37,084,174 (GRCm39)	T3864S	probably benign	Het
Bub1	A	C	2: 127,671,596 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cdh15	T	C	8: 123,591,897 (GRCm39)	L594P	probably damaging	Het
Cobll1	C	T	2: 64,981,417 (GRCm39)	V90I	probably benign	Het
Cog2	T	C	8: 125,271,875 (GRCm39)	V463A	probably benign	Het
Cpeb4	T	A	11: 31,877,757 (GRCm39)		probably null	Het
Creb5	G	A	6: 53,581,519 (GRCm39)	M172I	possibly damaging	Het
Cyp4a32	T	C	4: 115,460,126 (GRCm39)		silent	Het
Dnah8	T	A	17: 30,881,026 (GRCm39)	S588T	probably benign	Het
Ecpas	T	C	4: 58,840,751 (GRCm39)	Y669C	probably damaging	Het
Esd	T	C	14: 74,979,517 (GRCm39)	V120A	possibly damaging	Het
Fbxo5	T	C	10: 5,755,255 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,432 (GRCm39)	D430G	probably benign	Het
Golga4	C	A	9: 118,386,327 (GRCm39)	Q1150K	probably benign	Het
Grb14	T	C	2: 64,783,947 (GRCm39)	N60S	probably benign	Het
Grk4	A	G	5: 34,818,325 (GRCm39)	N2S	probably damaging	Het
Henmt1	T	A	3: 108,850,081 (GRCm39)	S21R	probably benign	Het
Ifngr2	A	G	16: 91,354,906 (GRCm39)	K113E	probably benign	Het
Ighv15-2	T	A	12: 114,528,590 (GRCm39)	T15S	probably benign	Het
Kif24	A	G	4: 41,395,287 (GRCm39)	S529P	probably damaging	Het
Large2	T	C	2: 92,200,957 (GRCm39)	N51S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,599 (GRCm39)	E773G	possibly damaging	Het
Lrfn3	A	T	7: 30,059,467 (GRCm39)	C253S	probably damaging	Het
Maea	T	C	5: 33,517,832 (GRCm39)	V130A	possibly damaging	Het
Marchf11	A	T	15: 26,311,189 (GRCm39)	I222F	probably damaging	Het
Mast4	A	T	13: 102,873,766 (GRCm39)	Y1699*	probably null	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mpzl3	T	A	9: 44,979,529 (GRCm39)	V160E	possibly damaging	Het
Myh15	T	C	16: 48,885,388 (GRCm39)	S88P	possibly damaging	Het
Myl2	A	T	5: 122,244,801 (GRCm39)	H157L	probably benign	Het
Myo9b	A	G	8: 71,767,779 (GRCm39)	N284S	probably damaging	Het
Nphp1	A	G	2: 127,610,089 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,609,323 (GRCm39)		probably null	Het
Nt5c3b	G	T	11: 100,323,885 (GRCm39)	F134L	probably damaging	Het
Or4c120	T	A	2: 89,001,544 (GRCm39)	Q4L	probably benign	Het
Otog	A	G	7: 45,937,225 (GRCm39)	R1645G	possibly damaging	Het
Pask	T	C	1: 93,249,830 (GRCm39)	I523M	probably benign	Het
Pcdhb7	T	A	18: 37,475,188 (GRCm39)	L108Q	probably damaging	Het
Pdp2	C	A	8: 105,321,576 (GRCm39)	T475K	probably damaging	Het
Pgbd1	G	C	13: 21,612,499 (GRCm39)	P113A	probably benign	Het
Plk5	C	T	10: 80,196,301 (GRCm39)	H291Y	possibly damaging	Het
Pmpca	G	T	2: 26,283,347 (GRCm39)	S382I	probably damaging	Het
Prl3b1	A	G	13: 27,433,450 (GRCm39)	T202A	possibly damaging	Het
Ptgs2	A	T	1: 149,979,845 (GRCm39)	T317S	possibly damaging	Het
Ptprc	C	T	1: 137,998,989 (GRCm39)	M1020I	probably benign	Het
Rhbdl3	T	C	11: 80,244,471 (GRCm39)	Y393H	probably damaging	Het
Sema3e	T	C	5: 14,283,717 (GRCm39)	L482P	probably damaging	Het
Setd2	C	T	9: 110,403,311 (GRCm39)	T1984I	probably benign	Het
Slc17a1	T	C	13: 24,071,960 (GRCm39)	Y393H	probably damaging	Het
Slc9a3	C	T	13: 74,307,005 (GRCm39)	R377*	probably null	Het
Slitrk3	A	G	3: 72,958,539 (GRCm39)	S78P	probably damaging	Het
Smim35	G	T	9: 45,155,426 (GRCm39)		probably null	Het
Specc1	T	A	11: 62,110,157 (GRCm39)	V1054E	probably damaging	Het
Tbc1d4	T	C	14: 101,696,219 (GRCm39)	T847A	probably benign	Het
Tcf7l2	G	A	19: 55,907,468 (GRCm39)	G343R	probably damaging	Het
Tex36	A	C	7: 133,189,111 (GRCm39)	Y154D	possibly damaging	Het
Topaz1	T	A	9: 122,576,580 (GRCm39)	M57K	probably null	Het
Trav6-4	T	C	14: 53,692,156 (GRCm39)	Y85H	probably damaging	Het
Ttn	A	G	2: 76,781,740 (GRCm39)	V1056A	probably benign	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Vmn1r59	A	T	7: 5,457,136 (GRCm39)	M208K	probably damaging	Het
Vmn2r25	T	C	6: 123,799,982 (GRCm39)	T787A	possibly damaging	Het
Vps39	A	T	2: 120,169,814 (GRCm39)	I246N	probably benign	Het
Xab2	T	C	8: 3,660,162 (GRCm39)	D855G	probably damaging	Het
Xpc	A	G	6: 91,476,993 (GRCm39)	S369P	probably benign	Het
Ythdc2	T	A	18: 44,991,265 (GRCm39)	C758S	possibly damaging	Het
Zfp62	A	G	11: 49,107,099 (GRCm39)	I397V	possibly damaging	Het
Zscan4d	A	G	7: 10,896,435 (GRCm39)	S312P	probably benign	Het

Other mutations in Trim30d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Trim30d	APN	7	104,121,333 (GRCm39)	missense	possibly damaging	0.81
IGL01818:Trim30d	APN	7	104,121,267 (GRCm39)	missense	probably damaging	1.00
IGL02552:Trim30d	APN	7	104,121,623 (GRCm39)	missense	probably damaging	0.98
IGL03000:Trim30d	APN	7	104,122,476 (GRCm39)	missense	probably benign	0.26
R0608:Trim30d	UTSW	7	104,121,692 (GRCm39)	missense	probably damaging	0.99
R0629:Trim30d	UTSW	7	104,136,862 (GRCm39)	missense	probably damaging	1.00
R1390:Trim30d	UTSW	7	104,132,610 (GRCm39)	missense	probably benign	0.41
R1460:Trim30d	UTSW	7	104,121,311 (GRCm39)	missense	probably benign	0.00
R1474:Trim30d	UTSW	7	104,121,701 (GRCm39)	missense	probably damaging	1.00
R1701:Trim30d	UTSW	7	104,133,389 (GRCm39)	nonsense	probably null
R1799:Trim30d	UTSW	7	104,132,682 (GRCm39)	missense	probably damaging	0.98
R2295:Trim30d	UTSW	7	104,137,149 (GRCm39)	missense	probably damaging	1.00
R3898:Trim30d	UTSW	7	104,132,736 (GRCm39)	missense	probably benign	0.01
R3953:Trim30d	UTSW	7	104,121,728 (GRCm39)	missense	probably damaging	1.00
R3954:Trim30d	UTSW	7	104,121,728 (GRCm39)	missense	probably damaging	1.00
R3955:Trim30d	UTSW	7	104,121,728 (GRCm39)	missense	probably damaging	1.00
R3957:Trim30d	UTSW	7	104,121,728 (GRCm39)	missense	probably damaging	1.00
R4086:Trim30d	UTSW	7	104,137,007 (GRCm39)	missense	probably damaging	1.00
R4087:Trim30d	UTSW	7	104,137,007 (GRCm39)	missense	probably damaging	1.00
R4089:Trim30d	UTSW	7	104,137,007 (GRCm39)	missense	probably damaging	1.00
R4596:Trim30d	UTSW	7	104,121,733 (GRCm39)	missense	probably benign	0.02
R4926:Trim30d	UTSW	7	104,132,564 (GRCm39)	missense	probably benign	0.09
R5071:Trim30d	UTSW	7	104,137,165 (GRCm39)	missense	probably damaging	1.00
R5074:Trim30d	UTSW	7	104,137,165 (GRCm39)	missense	probably damaging	1.00
R5294:Trim30d	UTSW	7	104,121,695 (GRCm39)	missense	probably damaging	1.00
R5477:Trim30d	UTSW	7	104,121,347 (GRCm39)	missense	probably damaging	1.00
R5629:Trim30d	UTSW	7	104,137,136 (GRCm39)	missense	possibly damaging	0.87
R5743:Trim30d	UTSW	7	104,121,535 (GRCm39)	nonsense	probably null
R6178:Trim30d	UTSW	7	104,137,202 (GRCm39)	start codon destroyed	probably damaging	1.00
R6244:Trim30d	UTSW	7	104,136,817 (GRCm39)	missense	probably damaging	1.00
R6937:Trim30d	UTSW	7	104,132,634 (GRCm39)	missense	probably damaging	1.00
R7014:Trim30d	UTSW	7	104,132,543 (GRCm39)	missense	probably benign	0.01
R7323:Trim30d	UTSW	7	104,132,555 (GRCm39)	missense	probably benign	0.41
R7659:Trim30d	UTSW	7	104,121,554 (GRCm39)	missense	probably benign	0.01
R7982:Trim30d	UTSW	7	104,121,817 (GRCm39)	missense	possibly damaging	0.95
R8353:Trim30d	UTSW	7	104,136,947 (GRCm39)	missense	probably damaging	0.99
R8453:Trim30d	UTSW	7	104,136,947 (GRCm39)	missense	probably damaging	0.99
X0026:Trim30d	UTSW	7	104,137,172 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCACATTTAGGCTGAAACG -3'
(R):5'- TGACTTTAAACAAGGCTTCTCCG -3'

Sequencing Primer
(F):5'- CATTTAGGCTGAAACGTTACATTTTG -3'
(R):5'- AAGGCTTCTCCGTGTTTCCTTG -3'

Posted On

2015-09-24