Mutagenetix > Incidental Mutation

Incidental Mutation 'R7392:Trim34b'

573517

Institutional Source

Beutler Lab

Gene Symbol

Trim34b

Ensembl Gene

ENSMUSG00000090215

Gene Name

tripartite motif-containing 34B

Synonyms

Trim34-2, Gm15134

MMRRC Submission

045474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R7392 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103978678-103986116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103985604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 413 (N413S)

Ref Sequence

ENSEMBL: ENSMUSP00000102460 (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 benign
Transcript: ENSMUST00000106847
AA Change: N413S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102460
Gene: ENSMUSG00000090215
AA Change: N413S

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 benign
Transcript: ENSMUST00000180136
AA Change: N413S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000136926
Gene: ENSMUSG00000090215
AA Change: N413S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,990 (GRCm39)	F564L	probably damaging	Het
Abcc2	T	C	19: 43,797,126 (GRCm39)	I499T	probably damaging	Het
Adamts13	C	T	2: 26,879,336 (GRCm39)	R630C	probably damaging	Het
Adgrv1	A	T	13: 81,708,808 (GRCm39)	F1199I	probably damaging	Het
Agbl5	G	A	5: 31,048,115 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,516,648 (GRCm39)	D881G	possibly damaging	Het
Arap2	A	T	5: 62,855,728 (GRCm39)	S569R	possibly damaging	Het
Arhgap15	T	C	2: 43,953,786 (GRCm39)	S171P	possibly damaging	Het
Arhgef11	G	A	3: 87,624,482 (GRCm39)		probably null	Het
Baz1a	C	A	12: 54,945,550 (GRCm39)	L1271F	probably damaging	Het
Bdnf	A	C	2: 109,554,275 (GRCm39)	K216N	probably benign	Het
Bmp7	C	T	2: 172,711,998 (GRCm39)	D409N	probably damaging	Het
Bnip5	A	T	17: 29,127,351 (GRCm39)	D219E	probably benign	Het
Cacna1c	T	A	6: 118,718,881 (GRCm39)	I390F		Het
Chd8	A	G	14: 52,470,312 (GRCm39)	S433P	probably benign	Het
Clrn2	A	G	5: 45,621,251 (GRCm39)	E215G	possibly damaging	Het
Col19a1	T	G	1: 24,573,115 (GRCm39)	D219A	unknown	Het
Col2a1	G	A	15: 97,878,032 (GRCm39)	R1036*	probably null	Het
Copg1	T	A	6: 87,867,257 (GRCm39)	V110D	probably benign	Het
Cpd	C	T	11: 76,692,605 (GRCm39)	G744D	probably damaging	Het
Crygs	G	A	16: 22,625,252 (GRCm39)	P63L	probably benign	Het
Dcn	A	G	10: 97,345,860 (GRCm39)	D224G	probably damaging	Het
Dnah7a	T	C	1: 53,540,820 (GRCm39)	E2518G	probably benign	Het
Efcab6	C	A	15: 83,873,152 (GRCm39)	R197L	probably benign	Het
Efr3b	T	A	12: 4,019,588 (GRCm39)	Y723F	probably benign	Het
Enam	A	G	5: 88,649,523 (GRCm39)	N344S	probably damaging	Het
Erich4	A	G	7: 25,315,101 (GRCm39)	I58T	possibly damaging	Het
Esrp1	A	G	4: 11,338,809 (GRCm39)	V665A	probably benign	Het
Etf1	G	A	18: 35,039,103 (GRCm39)	T388I	probably benign	Het
Faf1	A	G	4: 109,652,040 (GRCm39)	T244A	probably benign	Het
Fbn1	T	C	2: 125,185,844 (GRCm39)	D1610G	probably damaging	Het
Fcgbpl1	C	T	7: 27,863,797 (GRCm39)	T2523M	possibly damaging	Het
Frem1	G	T	4: 82,932,064 (GRCm39)	F212L	probably benign	Het
Fuom	T	A	7: 139,681,073 (GRCm39)	D85V	probably damaging	Het
Gcfc2	T	C	6: 81,919,993 (GRCm39)		probably null	Het
Gpr37	C	T	6: 25,688,786 (GRCm39)	A104T	probably benign	Het
Hsp90ab1	G	C	17: 45,879,974 (GRCm39)	T514S	probably benign	Het
Ifnl2	A	G	7: 28,209,094 (GRCm39)	F74L	probably benign	Het
Ipo11	G	A	13: 107,028,199 (GRCm39)	R367*	probably null	Het
Itpr2	T	C	6: 146,260,838 (GRCm39)	D963G	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrch3	T	A	16: 32,807,125 (GRCm39)	L466*	probably null	Het
Lrfn5	A	T	12: 61,887,090 (GRCm39)	T293S	probably benign	Het
Lrp5	A	G	19: 3,660,199 (GRCm39)	I955T	probably damaging	Het
Lrrc4b	C	T	7: 44,111,439 (GRCm39)	T437M	probably damaging	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Mapkap1	G	T	2: 34,325,166 (GRCm39)	R94L	probably damaging	Het
Mtmr4	T	A	11: 87,495,383 (GRCm39)	L480Q	probably damaging	Het
Mycbp2	T	C	14: 103,389,627 (GRCm39)	I3504M	probably damaging	Het
Mycbp2	A	T	14: 103,480,564 (GRCm39)	C1169S	probably damaging	Het
Myo15a	T	C	11: 60,396,802 (GRCm39)	S1455P		Het
Niban1	A	G	1: 151,571,975 (GRCm39)	T307A	probably damaging	Het
Nid2	A	G	14: 19,818,724 (GRCm39)	D406G	probably benign	Het
Nrip2	A	G	6: 128,381,913 (GRCm39)	I69V	probably benign	Het
Nthl1	G	A	17: 24,857,598 (GRCm39)	V266I	probably benign	Het
Or2ag16	T	C	7: 106,352,589 (GRCm39)	E2G	possibly damaging	Het
Or5an6	G	T	19: 12,371,829 (GRCm39)	L67F	probably damaging	Het
Or5b21	A	G	19: 12,839,951 (GRCm39)	T271A	probably benign	Het
Or5g23	A	C	2: 85,438,832 (GRCm39)	C141G	possibly damaging	Het
Or5p75-ps1	C	A	7: 108,107,291 (GRCm39)	H9Q	possibly damaging	Het
Or8k25	A	G	2: 86,243,496 (GRCm39)	V300A	probably benign	Het
Or8s5	A	G	15: 98,238,192 (GRCm39)	V226A	probably benign	Het
Pcdhb1	A	C	18: 37,398,171 (GRCm39)	S41R	possibly damaging	Het
Pdcd11	T	A	19: 47,116,436 (GRCm39)	F1529I	probably damaging	Het
Plcd3	C	A	11: 102,992,383 (GRCm39)		probably benign	Het
Qdpr	T	C	5: 45,596,718 (GRCm39)	M149V	probably benign	Het
R3hcc1	T	A	14: 69,943,329 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,041,856 (GRCm39)	Y392C		Het
Slc8a3	A	C	12: 81,361,577 (GRCm39)	V414G	probably damaging	Het
Slco1a6	A	G	6: 142,103,003 (GRCm39)	S54P	probably benign	Het
Sos1	C	A	17: 80,731,629 (GRCm39)	V624F	probably damaging	Het
Spdef	T	C	17: 27,936,262 (GRCm39)	D227G	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Srsf12	A	T	4: 33,209,265 (GRCm39)	R62W	unknown	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Sult2b1	T	C	7: 45,391,862 (GRCm39)		probably benign	Het
Taf1a	A	G	1: 183,190,095 (GRCm39)	T66A		Het
Tfg	A	T	16: 56,532,972 (GRCm39)		probably null	Het
Txndc15	T	A	13: 55,869,399 (GRCm39)	M184K	probably damaging	Het
Umodl1	A	C	17: 31,201,306 (GRCm39)	S412R	probably damaging	Het
Zbtb8b	T	A	4: 129,326,683 (GRCm39)	M161L	probably benign	Het
Zfp597	A	T	16: 3,684,369 (GRCm39)	V129E	probably benign	Het
Zfp790	T	C	7: 29,528,050 (GRCm39)	I245T	possibly 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
R6236:Trim34b	UTSW	7	103,985,525 (GRCm39)	missense	probably damaging	0.99
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
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'- TGTCTGAAAAGAATGCCTGGACC -3'
(R):5'- ACTCAGGAGTTCAGAGGACAC -3'

Sequencing Primer
(F):5'- GACCCTGGGAGTTTACACTAG -3'
(R):5'- CTGGACAGTCCCAAGGATTG -3'

Posted On

2019-09-13