Mutagenetix > Incidental Mutation

Incidental Mutation 'R5183:Trim34b'

397670

Institutional Source

Beutler Lab

Gene Symbol

Trim34b

Ensembl Gene

ENSMUSG00000090215

Gene Name

tripartite motif-containing 34B

Synonyms

Trim34-2, Gm15134

MMRRC Submission

042762-MU

Accession Numbers

Essential gene?

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

Stock #

R5183 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103978678-103986116 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103979118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 122 (Q122K)

Ref Sequence

ENSEMBL: ENSMUSP00000136926 (fasta)

Gene Model

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

AlphaFold

J3QNR8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106847
AA Change: Q122K

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102460
Gene: ENSMUSG00000090215
AA Change: Q122K

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

possibly damaging
Transcript: ENSMUST00000178316
AA Change: Q122K

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136248
Gene: ENSMUSG00000090215
AA Change: Q122K

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	345	484	3e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180136
AA Change: Q122K

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136926
Gene: ENSMUSG00000090215
AA Change: Q122K

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

Meta Mutation Damage Score

0.1946

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,887,171 (GRCm39)	D8E	probably damaging	Het
Abca3	T	G	17: 24,593,427 (GRCm39)	S275A	probably benign	Het
Adk	A	G	14: 21,290,599 (GRCm39)	N155S	probably damaging	Het
Aqp11	T	C	7: 97,386,963 (GRCm39)	T78A	probably benign	Het
Arhgef40	T	C	14: 52,241,556 (GRCm39)	V1455A	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Cdan1	T	A	2: 120,560,061 (GRCm39)	I368F	probably damaging	Het
Cdc42bpg	A	G	19: 6,371,835 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,714,759 (GRCm39)	D2013G	probably damaging	Het
Cep152	A	G	2: 125,408,558 (GRCm39)	V1332A	probably damaging	Het
Cftr	T	C	6: 18,299,832 (GRCm39)	S1172P	probably damaging	Het
Commd2	A	T	3: 57,554,235 (GRCm39)	D155E	probably benign	Het
Coq7	T	A	7: 118,127,490 (GRCm39)		probably benign	Het
Dnase2a	T	C	8: 85,636,207 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock6	C	T	9: 21,752,899 (GRCm39)	V305I	probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Fasn	T	C	11: 120,699,708 (GRCm39)	Q2288R	probably benign	Het
Fat3	T	A	9: 15,871,609 (GRCm39)	N3594I	probably damaging	Het
Galnt10	T	C	11: 57,660,414 (GRCm39)	M284T	probably damaging	Het
Gatm	A	T	2: 122,425,984 (GRCm39)	F422L	probably benign	Het
Glrp1	A	T	1: 88,437,574 (GRCm39)	I12N	unknown	Het
Gm5455	T	A	13: 110,441,962 (GRCm39)		noncoding transcript	Het
Gpam	C	T	19: 55,071,659 (GRCm39)	E361K	probably damaging	Het
Gps2	A	G	11: 69,806,023 (GRCm39)	T126A	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsg1	T	A	6: 135,218,368 (GRCm39)	Q176L	probably damaging	Het
Htra1	C	T	7: 130,585,446 (GRCm39)	A412V	possibly damaging	Het
Icosl	C	T	10: 77,905,319 (GRCm39)		probably benign	Het
Iqgap1	T	C	7: 80,372,813 (GRCm39)	T1509A	probably damaging	Het
Irag2	A	G	6: 145,083,946 (GRCm39)	E37G	probably benign	Het
Itgad	T	C	7: 127,797,395 (GRCm39)		probably null	Het
Kdm5a	C	A	6: 120,406,977 (GRCm39)		probably benign	Het
Kidins220	T	C	12: 25,101,125 (GRCm39)	L1017S	probably benign	Het
Lrrc37	T	C	11: 103,433,947 (GRCm39)	Y898C	probably damaging	Het
Man2b1	T	A	8: 85,822,413 (GRCm39)	S804R	probably damaging	Het
Miip	A	T	4: 147,947,526 (GRCm39)	F211L	probably damaging	Het
Moxd1	T	G	10: 24,155,445 (GRCm39)		probably null	Het
Moxd1	T	G	10: 24,163,034 (GRCm39)	Y499D	probably damaging	Het
Mrpl45	T	C	11: 97,207,577 (GRCm39)	I24T	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mthfr	T	A	4: 148,135,817 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,404,547 (GRCm39)	D827E	unknown	Het
Myo1g	G	C	11: 6,458,243 (GRCm39)	L866V	probably damaging	Het
Myo3a	A	T	2: 22,468,170 (GRCm39)	M475L	probably benign	Het
Ncoa2	A	C	1: 13,244,590 (GRCm39)	L703V	probably damaging	Het
Ncoa4-ps	A	C	12: 119,225,023 (GRCm39)		noncoding transcript	Het
Nme6	T	A	9: 109,670,557 (GRCm39)	Y69*	probably null	Het
Nwd1	T	A	8: 73,397,714 (GRCm39)	M651K	probably benign	Het
Or4k15c	A	C	14: 50,322,003 (GRCm39)	I45S	probably damaging	Het
Orc2	A	T	1: 58,513,977 (GRCm39)	S298R	possibly damaging	Het
Oscp1	A	T	4: 125,981,522 (GRCm39)	E328V	probably damaging	Het
Pan2	T	C	10: 128,153,838 (GRCm39)	V1003A	probably damaging	Het
Pik3r4	T	C	9: 105,559,507 (GRCm39)	V1200A	possibly damaging	Het
Prl	T	C	13: 27,241,579 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,351,232 (GRCm39)	V575A	probably benign	Het
Rflna	A	T	5: 125,088,469 (GRCm39)	S139C	probably damaging	Het
Robo1	T	C	16: 72,539,038 (GRCm39)	F27S	probably benign	Het
Secisbp2	T	C	13: 51,819,460 (GRCm39)	S347P	probably benign	Het
Shmt1	A	G	11: 60,688,308 (GRCm39)		probably benign	Het
Slc27a3	A	G	3: 90,296,477 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,585,957 (GRCm39)	V425A	probably damaging	Het
Slc8a3	A	G	12: 81,361,265 (GRCm39)	V518A	possibly damaging	Het
Slco1a4	A	T	6: 141,785,357 (GRCm39)	Y78N	probably damaging	Het
Stt3b	A	T	9: 115,095,211 (GRCm39)	H273Q	probably damaging	Het
Tle6	T	A	10: 81,428,635 (GRCm39)	N431I	probably damaging	Het
Trio	C	A	15: 27,902,686 (GRCm39)	R258S	probably benign	Het
Ttc7	A	T	17: 87,600,306 (GRCm39)	D23V	probably damaging	Het
Ttn	A	T	2: 76,810,525 (GRCm39)	M1K	probably null	Het
Ufsp2	T	C	8: 46,447,126 (GRCm39)	V391A	probably benign	Het
Vps13c	T	C	9: 67,815,334 (GRCm39)	L990S	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp618	G	A	4: 63,017,519 (GRCm39)	M234I	probably benign	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
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
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'- GAAAAGCAGCTGTCCTGTGTG -3'
(R):5'- AGGCCAACCCTTTACATAAATGG -3'

Sequencing Primer
(F):5'- GATTCTCGTTGGAAAATCTACAGGC -3'
(R):5'- GAACCCAGTGGTAATGTG -3'

Posted On

2016-07-06