Mutagenetix > Incidental Mutation

Incidental Mutation 'R8356:Trim34a'

660335

Institutional Source

Beutler Lab

Gene Symbol

Trim34a

Ensembl Gene

ENSMUSG00000056144

Gene Name

tripartite motif-containing 34A

Synonyms

Trim34-1, Trim34

MMRRC Submission

067870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R8356 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103893664-103911441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103910178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 327 (I327F)

Ref Sequence

ENSEMBL: ENSMUSP00000102462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051795] [ENSMUST00000060315] [ENSMUST00000098179] [ENSMUST00000106848] [ENSMUST00000106849]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051795

SMART Domains

Protein: ENSMUSP00000050084
Gene: ENSMUSG00000060441

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
coiled coil region	172	232	N/A	INTRINSIC
Pfam:SPRY	349	485	9.2e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000060315
AA Change: I327F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144
AA Change: I327F

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	347	474	1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098179

SMART Domains

Protein: ENSMUSP00000095781
Gene: ENSMUSG00000060441

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
Pfam:SPRY	351	493	1.6e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106848
AA Change: I327F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144
AA Change: I327F

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	345	484	6.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106849
AA Change: I327F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144
AA Change: I327F

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	345	484	6.5e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	A	5: 113,861,868 (GRCm39)	M1L	unknown	Het
Abcc9	A	T	6: 142,536,096 (GRCm39)	M1546K	probably benign	Het
Acbd3	T	C	1: 180,553,881 (GRCm39)	M72T	probably benign	Het
Adam6a	T	G	12: 113,509,757 (GRCm39)	L710R	probably benign	Het
Aldh4a1	T	C	4: 139,365,833 (GRCm39)	S275P	probably benign	Het
Ap3d1	A	T	10: 80,568,737 (GRCm39)	L47Q	probably damaging	Het
Arhgap19	G	A	19: 41,762,615 (GRCm39)	R414C	probably damaging	Het
Ascc3	T	C	10: 50,526,003 (GRCm39)	S572P	probably benign	Het
Cdk10	G	A	8: 123,955,096 (GRCm39)	R78H	probably benign	Het
Celsr2	C	T	3: 108,320,847 (GRCm39)	R655H	possibly damaging	Het
Cntnap2	T	A	6: 47,026,307 (GRCm39)	H44Q	probably benign	Het
Cpped1	A	T	16: 11,712,793 (GRCm39)	C32*	probably null	Het
Ddi1	A	G	9: 6,266,249 (GRCm39)	V40A	probably benign	Het
Ddx50	T	C	10: 62,457,287 (GRCm39)	T588A	probably benign	Het
Degs2	A	G	12: 108,658,223 (GRCm39)	I252T	possibly damaging	Het
Dnah1	C	T	14: 30,994,972 (GRCm39)	V2762I	probably benign	Het
Dnah5	A	G	15: 28,444,313 (GRCm39)	D4037G	probably benign	Het
Dnah5	C	T	15: 28,444,469 (GRCm39)	A4089V	probably null	Het
Dthd1	A	T	5: 63,007,081 (GRCm39)	D594V	probably damaging	Het
Ehmt1	A	T	2: 24,742,781 (GRCm39)	M466K	probably benign	Het
Erich2	A	T	2: 70,357,873 (GRCm39)		probably null	Het
Fam221b	T	C	4: 43,665,519 (GRCm39)	D313G	probably benign	Het
Fbxl22	T	C	9: 66,421,732 (GRCm39)	D35G	possibly damaging	Het
Ggcx	A	G	6: 72,406,574 (GRCm39)	E679G	probably benign	Het
Gm14295	A	G	2: 176,501,307 (GRCm39)	T266A	probably benign	Het
Hnrnpa1	A	G	15: 103,150,529 (GRCm39)	D160G	probably null	Het
Hnrnpul1	T	C	7: 25,422,247 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,259,756 (GRCm39)	E2576G	possibly damaging	Het
Ifit2	T	A	19: 34,550,908 (GRCm39)	C149*	probably null	Het
Il18rap	T	A	1: 40,564,084 (GRCm39)	S67R	probably benign	Het
Kcnk4	T	G	19: 6,903,668 (GRCm39)	S294R	probably benign	Het
Kif21b	A	G	1: 136,100,683 (GRCm39)	H1588R	probably damaging	Het
Klhl35	A	T	7: 99,122,129 (GRCm39)	S77C	probably damaging	Het
Lats2	A	T	14: 57,934,867 (GRCm39)	M228K	probably damaging	Het
Lrfn4	T	C	19: 4,662,256 (GRCm39)	D587G	probably benign	Het
Lrrd1	C	A	5: 3,916,509 (GRCm39)	T842K	probably benign	Het
Mafb	G	A	2: 160,208,125 (GRCm39)	H158Y	probably benign	Het
Mapk8ip3	T	A	17: 25,123,925 (GRCm39)	E561D	probably damaging	Het
Mcemp1	A	G	8: 3,717,542 (GRCm39)	T158A	probably damaging	Het
Mst1r	A	T	9: 107,794,463 (GRCm39)	E1214V	probably damaging	Het
Muc16	A	G	9: 18,570,074 (GRCm39)	I815T	unknown	Het
Ncoa6	T	A	2: 155,248,172 (GRCm39)	I1711L	possibly damaging	Het
Neo1	G	A	9: 58,785,402 (GRCm39)	T1408M	probably damaging	Het
Niban1	T	A	1: 151,571,901 (GRCm39)	V282D	probably damaging	Het
Nnt	A	C	13: 119,476,368 (GRCm39)	F632C	probably damaging	Het
Nup210	G	A	6: 91,051,330 (GRCm39)	T351I	probably benign	Het
Or4f59	A	G	2: 111,872,943 (GRCm39)	S145P	probably damaging	Het
Or52e18	A	G	7: 104,609,934 (GRCm39)	S2P	probably benign	Het
P4ha1	C	T	10: 59,191,185 (GRCm39)	T364I	probably damaging	Het
Pcdhb11	T	A	18: 37,555,252 (GRCm39)	L194Q	probably damaging	Het
Pramel52-ps	A	G	5: 94,531,703 (GRCm39)	K196E	probably damaging	Het
Rad51ap1	A	G	6: 126,901,879 (GRCm39)		probably null	Het
Rbm11	G	A	16: 75,397,694 (GRCm39)	R208K	probably benign	Het
Rps6ka1	T	A	4: 133,587,368 (GRCm39)	Q535L	possibly damaging	Het
Slc26a3	A	G	12: 31,516,505 (GRCm39)	D621G	probably benign	Het
Sox10	T	G	15: 79,040,652 (GRCm39)	E296A	probably damaging	Het
St3gal4	A	C	9: 34,964,438 (GRCm39)	V188G	probably damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Zc2hc1c	A	G	12: 85,337,471 (GRCm39)	E376G	probably damaging	Het
Zfp423	G	A	8: 88,509,910 (GRCm39)	P77S	probably damaging	Het
Zfp560	A	T	9: 20,260,231 (GRCm39)	S210R	probably benign	Het

Other mutations in Trim34a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Trim34a	APN	7	103,910,538 (GRCm39)	missense	probably damaging	1.00
IGL00826:Trim34a	APN	7	103,910,140 (GRCm39)	splice site	probably null
IGL01526:Trim34a	APN	7	103,909,706 (GRCm39)	missense	probably damaging	1.00
IGL01859:Trim34a	APN	7	103,910,149 (GRCm39)	missense	probably damaging	0.96
IGL02052:Trim34a	APN	7	103,897,038 (GRCm39)	missense	probably benign	0.33
IGL02192:Trim34a	APN	7	103,896,939 (GRCm39)	start codon destroyed	probably null	1.00
IGL02351:Trim34a	APN	7	103,910,441 (GRCm39)	nonsense	probably null
IGL02358:Trim34a	APN	7	103,910,441 (GRCm39)	nonsense	probably null
IGL03326:Trim34a	APN	7	103,910,587 (GRCm39)	missense	probably benign	0.03
IGL03366:Trim34a	APN	7	103,910,140 (GRCm39)	splice site	probably null
Gold_belt	UTSW	7	103,910,271 (GRCm39)	nonsense	probably null
PIT4472001:Trim34a	UTSW	7	103,897,155 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Trim34a	UTSW	7	103,909,691 (GRCm39)	missense	probably benign	0.15
R0115:Trim34a	UTSW	7	103,897,109 (GRCm39)	missense	probably damaging	1.00
R0848:Trim34a	UTSW	7	103,910,331 (GRCm39)	missense	probably benign
R1016:Trim34a	UTSW	7	103,897,167 (GRCm39)	missense	probably benign	0.10
R1477:Trim34a	UTSW	7	103,897,287 (GRCm39)	missense	possibly damaging	0.81
R1622:Trim34a	UTSW	7	103,910,545 (GRCm39)	splice site	probably null
R2287:Trim34a	UTSW	7	103,910,262 (GRCm39)	missense	probably damaging	1.00
R3685:Trim34a	UTSW	7	103,909,333 (GRCm39)	splice site	probably null
R4166:Trim34a	UTSW	7	103,910,223 (GRCm39)	missense	probably benign	0.02
R4967:Trim34a	UTSW	7	103,910,271 (GRCm39)	nonsense	probably null
R4979:Trim34a	UTSW	7	103,897,069 (GRCm39)	missense	probably benign	0.00
R5194:Trim34a	UTSW	7	103,910,200 (GRCm39)	missense	possibly damaging	0.70
R5443:Trim34a	UTSW	7	103,909,420 (GRCm39)	missense	possibly damaging	0.80
R5631:Trim34a	UTSW	7	103,897,946 (GRCm39)	missense	probably damaging	1.00
R5902:Trim34a	UTSW	7	103,910,328 (GRCm39)	nonsense	probably null
R6147:Trim34a	UTSW	7	103,910,398 (GRCm39)	missense	probably damaging	0.99
R6644:Trim34a	UTSW	7	103,910,244 (GRCm39)	missense	probably damaging	1.00
R7971:Trim34a	UTSW	7	103,897,025 (GRCm39)	missense	probably damaging	0.98
R8060:Trim34a	UTSW	7	103,910,183 (GRCm39)	missense	probably damaging	1.00
R8278:Trim34a	UTSW	7	103,898,623 (GRCm39)	missense	probably damaging	0.99
R9275:Trim34a	UTSW	7	103,910,201 (GRCm39)	missense	probably damaging	0.96
R9563:Trim34a	UTSW	7	103,910,328 (GRCm39)	nonsense	probably null
X0023:Trim34a	UTSW	7	103,908,622 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TCTAAGCTCTCCAGTGTTGGC -3'
(R):5'- GCTGTAACCCTATAACCCAGTAGC -3'

Sequencing Primer
(F):5'- GGCTTTTCACAGTGTTTCACAAAC -3'
(R):5'- ATAACCCAGTAGCCATTCTGTG -3'

Posted On

2021-01-18