Mutagenetix > Incidental Mutation

Incidental Mutation 'R6236:Trim34b'

504947

Institutional Source

Beutler Lab

Gene Symbol

Trim34b

Ensembl Gene

ENSMUSG00000090215

Gene Name

tripartite motif-containing 34B

Synonyms

Trim34-2, Gm15134

MMRRC Submission

044400-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R6236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103978678-103986116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103985525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 387 (R387G)

Ref Sequence

ENSEMBL: ENSMUSP00000136926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059037] [ENSMUST00000106847] [ENSMUST00000130139] [ENSMUST00000180136]

AlphaFold

J3QNR8

Predicted Effect

probably benign
Transcript: ENSMUST00000059037

SMART Domains

Protein: ENSMUSP00000060100
Gene: ENSMUSG00000057143

Domain	Start	End	E-Value	Type
RING	15	58	5.51e-7	SMART
BBOX	91	132	4.83e-12	SMART
low complexity region	196	209	N/A	INTRINSIC
Pfam:SPRY	351	493	8.7e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106847
AA Change: R387G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102460
Gene: ENSMUSG00000090215
AA Change: R387G

Domain	Start	End	E-Value	Type
RING	15	58	7.8e-7	SMART
ZnF_RBZ	31	61	5.96e-1	SMART
BBOX	91	132	2.15e-9	SMART
low complexity region	195	209	N/A	INTRINSIC
Blast:PRY	299	343	3e-21	BLAST
Pfam:SPRY	347	474	7.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130139

SMART Domains

Protein: ENSMUSP00000116775
Gene: ENSMUSG00000057143

Domain	Start	End	E-Value	Type
RING	15	58	5.51e-7	SMART
BBOX	91	132	4.83e-12	SMART
low complexity region	196	209	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000180136
AA Change: R387G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136926
Gene: ENSMUSG00000090215
AA Change: R387G

Domain	Start	End	E-Value	Type
RING	15	58	7.8e-7	SMART
ZnF_RBZ	31	61	5.96e-1	SMART
BBOX	91	132	2.15e-9	SMART
low complexity region	195	209	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	345	484	3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184402

Meta Mutation Damage Score

0.5299

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,989,664 (GRCm39)	T703A	possibly damaging	Het
Acd	C	T	8: 106,427,127 (GRCm39)	A49T	probably benign	Het
Acer1	T	A	17: 57,262,231 (GRCm39)	I224F	probably benign	Het
Acvr1	T	C	2: 58,367,678 (GRCm39)	D161G	probably benign	Het
Catsper4	T	C	4: 133,948,887 (GRCm39)	I111V	probably benign	Het
Cfap210	A	C	2: 69,588,385 (GRCm39)		probably null	Het
Chst14	T	A	2: 118,757,997 (GRCm39)	C264S	probably damaging	Het
Clnk	T	C	5: 38,870,542 (GRCm39)	T339A	probably benign	Het
Cnot4	T	C	6: 35,045,608 (GRCm39)	K201R	probably benign	Het
Col19a1	A	G	1: 24,319,030 (GRCm39)	V1020A	probably damaging	Het
Cts6	C	A	13: 61,344,192 (GRCm39)	E287*	probably null	Het
Dbf4	T	C	5: 8,448,579 (GRCm39)		probably benign	Het
Diaph3	G	A	14: 87,275,004 (GRCm39)	R140*	probably null	Het
Faah	T	C	4: 115,856,786 (GRCm39)	I459V	probably benign	Het
Fbxw2	A	T	2: 34,712,845 (GRCm39)	L72H	probably damaging	Het
Fstl4	G	A	11: 53,077,162 (GRCm39)	G640S	probably benign	Het
Gabrb1	C	T	5: 72,265,663 (GRCm39)	T186M	probably damaging	Het
Gata2	T	C	6: 88,179,548 (GRCm39)		probably null	Het
Ifi203	A	G	1: 173,761,479 (GRCm39)	V190A	probably benign	Het
Kdm3a	T	C	6: 71,588,641 (GRCm39)	E456G	probably benign	Het
Kl	A	T	5: 150,876,755 (GRCm39)	T192S	probably damaging	Het
Klhl3	G	A	13: 58,232,876 (GRCm39)	A77V	probably damaging	Het
Klri2	A	G	6: 129,715,858 (GRCm39)	F114L	probably benign	Het
Lonp2	A	T	8: 87,363,215 (GRCm39)	R278*	probably null	Het
Lrp5	A	T	19: 3,680,483 (GRCm39)		probably null	Het
Med13	T	A	11: 86,219,357 (GRCm39)	H363L	probably damaging	Het
Metap1d	T	G	2: 71,346,022 (GRCm39)	F194L	probably benign	Het
Misp	A	G	10: 79,662,956 (GRCm39)	K458E	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myh2	A	G	11: 67,081,157 (GRCm39)	T1258A	probably benign	Het
Nipbl	T	A	15: 8,354,064 (GRCm39)	D1691V	possibly damaging	Het
Nr1i2	C	T	16: 38,086,300 (GRCm39)	C55Y	probably damaging	Het
Or11h7	T	C	14: 50,891,257 (GRCm39)	S188P	probably damaging	Het
Or7g21	A	T	9: 19,032,409 (GRCm39)	I50F	possibly damaging	Het
Pcdhgb4	T	C	18: 37,854,345 (GRCm39)	Y247H	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Ric1	T	A	19: 29,572,826 (GRCm39)	D755E	possibly damaging	Het
Sez6l	G	T	5: 112,623,110 (GRCm39)	T147K	possibly damaging	Het
Ski	A	G	4: 155,244,001 (GRCm39)	F451S	probably benign	Het
Slc45a2	C	T	15: 11,022,158 (GRCm39)	T300I	probably benign	Het
Smarca2	T	C	19: 26,673,613 (GRCm39)	V1050A	probably benign	Het
Spag1	T	C	15: 36,211,281 (GRCm39)	S476P	probably damaging	Het
Sptbn2	T	A	19: 4,798,166 (GRCm39)	S1964T	probably benign	Het
Sucla2	T	A	14: 73,831,190 (GRCm39)	D434E	probably benign	Het
Tbl3	G	A	17: 24,919,717 (GRCm39)	T779I	probably benign	Het
Tlr2	T	A	3: 83,745,438 (GRCm39)	E215V	probably benign	Het
Tomm40	G	A	7: 19,437,281 (GRCm39)	P227S	probably benign	Het
Tpp2	T	A	1: 44,016,477 (GRCm39)	S711T	probably benign	Het
Traj32	T	A	14: 54,423,565 (GRCm39)	Y2*	probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Usp5	T	C	6: 124,795,441 (GRCm39)	T651A	probably benign	Het
Vmn1r188	T	C	13: 22,272,414 (GRCm39)	S123P	probably damaging	Het
Zdhhc14	T	C	17: 5,543,918 (GRCm39)	L66P	probably damaging	Het
Zfp712	C	T	13: 67,188,685 (GRCm39)	C614Y	probably damaging	Het
Zfp827	A	G	8: 79,797,105 (GRCm39)	K397R	probably damaging	Het

Other mutations in Trim34b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Trim34b	APN	7	103,978,859 (GRCm39)	nonsense	probably null
IGL01103:Trim34b	APN	7	103,979,106 (GRCm39)	missense	probably damaging	1.00
IGL02252:Trim34b	APN	7	103,979,139 (GRCm39)	missense	probably damaging	0.98
IGL03241:Trim34b	APN	7	103,983,820 (GRCm39)	intron	probably benign
R0032:Trim34b	UTSW	7	103,985,784 (GRCm39)	missense	possibly damaging	0.61
R0381:Trim34b	UTSW	7	103,979,062 (GRCm39)	missense	probably damaging	1.00
R2403:Trim34b	UTSW	7	103,978,876 (GRCm39)	missense	probably benign
R2520:Trim34b	UTSW	7	103,980,446 (GRCm39)	missense	probably damaging	1.00
R2857:Trim34b	UTSW	7	103,985,439 (GRCm39)	missense	probably benign	0.00
R2859:Trim34b	UTSW	7	103,985,439 (GRCm39)	missense	probably benign	0.00
R3077:Trim34b	UTSW	7	103,980,508 (GRCm39)	missense	possibly damaging	0.89
R4094:Trim34b	UTSW	7	103,983,795 (GRCm39)	missense	probably benign
R4449:Trim34b	UTSW	7	103,984,935 (GRCm39)	missense	probably benign	0.00
R5183:Trim34b	UTSW	7	103,979,118 (GRCm39)	missense	possibly damaging	0.92
R5700:Trim34b	UTSW	7	103,985,618 (GRCm39)	missense	probably damaging	1.00
R5759:Trim34b	UTSW	7	103,980,640 (GRCm39)	missense	possibly damaging	0.46
R6364:Trim34b	UTSW	7	103,985,733 (GRCm39)	missense	probably damaging	0.99
R7034:Trim34b	UTSW	7	103,978,743 (GRCm39)	start gained	probably benign
R7036:Trim34b	UTSW	7	103,978,743 (GRCm39)	start gained	probably benign
R7237:Trim34b	UTSW	7	103,978,794 (GRCm39)	missense	possibly damaging	0.80
R7392:Trim34b	UTSW	7	103,985,604 (GRCm39)	missense	probably benign	0.00
R7405:Trim34b	UTSW	7	103,985,690 (GRCm39)	missense	probably damaging	1.00
R7516:Trim34b	UTSW	7	103,978,918 (GRCm39)	missense	probably damaging	1.00
R7646:Trim34b	UTSW	7	103,984,559 (GRCm39)	missense	probably damaging	0.97
R7909:Trim34b	UTSW	7	103,979,731 (GRCm39)	missense	probably benign	0.01
R8396:Trim34b	UTSW	7	103,979,083 (GRCm39)	missense	probably damaging	1.00
R8472:Trim34b	UTSW	7	103,980,545 (GRCm39)	missense	probably benign	0.00
R8806:Trim34b	UTSW	7	103,985,319 (GRCm39)	missense	probably damaging	1.00
R9476:Trim34b	UTSW	7	103,980,503 (GRCm39)	missense	probably damaging	1.00
R9510:Trim34b	UTSW	7	103,980,503 (GRCm39)	missense	probably damaging	1.00
R9645:Trim34b	UTSW	7	103,980,474 (GRCm39)	missense	probably benign	0.12
Z1176:Trim34b	UTSW	7	103,984,521 (GRCm39)	missense	probably damaging	1.00
Z1177:Trim34b	UTSW	7	103,980,560 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- ACCACAGACAAGTGACATCTGTG -3'
(R):5'- AGTGATCCATGGTTGGTGAC -3'

Sequencing Primer
(F):5'- GTCCATTTGGCCCTTTAAGTG -3'
(R):5'- CATTGAGGAAGGACACTGTGCC -3'

Posted On

2018-02-28