Mutagenetix > Incidental Mutation

Incidental Mutation 'R5320:Trim36'

406092

Institutional Source

Beutler Lab

Gene Symbol

Trim36

Ensembl Gene

ENSMUSG00000033949

Gene Name

tripartite motif-containing 36

Synonyms

Haprin, D18Wsu100e

MMRRC Submission

042903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R5320 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46298367-46345674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46300565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 690 (P690Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037011] [ENSMUST00000167364]

AlphaFold

Q80WG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037011
AA Change: P702Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
AA Change: P702Q

Domain	Start	End	E-Value	Type
RING	33	118	1.25e-5	SMART
BBOX	207	249	1.82e-7	SMART
Blast:BBC	256	381	5e-11	BLAST
FN3	418	498	1.32e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167364
AA Change: P690Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
AA Change: P690Q

Domain	Start	End	E-Value	Type
RING	21	106	1.25e-5	SMART
BBOX	195	237	1.82e-7	SMART
Blast:BBC	244	369	4e-11	BLAST
FN3	406	486	1.32e-1	SMART
Pfam:SPRY	560	704	1.7e-9	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,526,541 (GRCm39)	I581N	probably damaging	Het
Abcb10	A	G	8: 124,697,763 (GRCm39)	F187S	probably benign	Het
Actl11	T	A	9: 107,808,203 (GRCm39)	V842E	possibly damaging	Het
Akap12	A	G	10: 4,307,291 (GRCm39)	D1367G	probably benign	Het
Aoc1l1	T	A	6: 48,952,474 (GRCm39)	L133Q	probably damaging	Het
Aoc1l3	T	A	6: 48,964,509 (GRCm39)	F172L	probably benign	Het
AU040320	A	T	4: 126,717,509 (GRCm39)	H362L	possibly damaging	Het
Bmpr1a	C	T	14: 34,146,999 (GRCm39)	V258M	probably damaging	Het
Bptf	T	A	11: 106,972,193 (GRCm39)	K892*	probably null	Het
Cap2	A	G	13: 46,801,840 (GRCm39)	*422W	probably null	Het
Cars2	G	T	8: 11,567,854 (GRCm39)	H414N	probably benign	Het
Ccnt1	A	C	15: 98,442,124 (GRCm39)	S381R	probably benign	Het
Cdyl2	A	T	8: 117,321,794 (GRCm39)	C244*	probably null	Het
Cers2	A	G	3: 95,228,305 (GRCm39)	E115G	probably null	Het
Cpt1b	G	A	15: 89,303,477 (GRCm39)	P553S	probably benign	Het
Cuedc1	A	G	11: 88,068,136 (GRCm39)	E128G	probably damaging	Het
Dll4	T	A	2: 119,156,968 (GRCm39)	V80D	probably damaging	Het
Dop1b	T	C	16: 93,536,874 (GRCm39)	L113P	probably damaging	Het
Fam98a	A	G	17: 75,845,810 (GRCm39)	I312T	probably damaging	Het
Gnrhr	T	G	5: 86,345,473 (GRCm39)	K71T	possibly damaging	Het
Gtf3c3	A	T	1: 54,445,032 (GRCm39)	L674Q	probably damaging	Het
Hipk2	A	T	6: 38,795,212 (GRCm39)	H352Q	probably damaging	Het
Hivep1	T	C	13: 42,313,115 (GRCm39)	V1785A	probably damaging	Het
Hspa4	A	T	11: 53,153,810 (GRCm39)	I687N	probably damaging	Het
Krt18	A	T	15: 101,936,955 (GRCm39)	D81V	probably damaging	Het
Lama3	A	C	18: 12,685,912 (GRCm39)	D1142A	probably damaging	Het
Lnpep	A	G	17: 17,766,727 (GRCm39)	I713T	possibly damaging	Het
Man2b2	T	A	5: 36,967,677 (GRCm39)	Y897F	probably damaging	Het
Muc5b	A	T	7: 141,412,738 (GRCm39)	I1895F	unknown	Het
Myh8	G	A	11: 67,177,089 (GRCm39)	V414I	probably damaging	Het
Myo1d	A	T	11: 80,575,149 (GRCm39)		probably null	Het
Nav2	A	T	7: 49,141,121 (GRCm39)	M889L	probably benign	Het
Oc90	C	T	15: 65,754,457 (GRCm39)	G236D	probably benign	Het
Or13a27	A	G	7: 139,925,548 (GRCm39)	V118A	probably benign	Het
Pak4	A	G	7: 28,267,631 (GRCm39)	I11T	probably damaging	Het
Papss2	T	C	19: 32,615,787 (GRCm39)	I173T	probably damaging	Het
Pcsk9	A	T	4: 106,320,988 (GRCm39)	D40E	probably benign	Het
Pdzrn3	G	C	6: 101,128,064 (GRCm39)	H867Q	probably damaging	Het
Plcb1	A	T	2: 135,094,696 (GRCm39)	I174F	possibly damaging	Het
Pom121l2	G	A	13: 22,166,015 (GRCm39)	W95*	probably null	Het
Prcp	A	T	7: 92,577,843 (GRCm39)	T336S	probably benign	Het
Prdm11	A	C	2: 92,843,226 (GRCm39)	S78A	probably benign	Het
Ralgds	T	C	2: 28,435,224 (GRCm39)	I405T	probably damaging	Het
Rasgrf1	A	G	9: 89,902,478 (GRCm39)	R1208G	probably damaging	Het
Rasgrp2	T	A	19: 6,458,864 (GRCm39)		probably null	Het
Rb1	A	T	14: 73,450,566 (GRCm39)	Y599*	probably null	Het
Rnf141	A	T	7: 110,433,010 (GRCm39)	F62L	probably damaging	Het
Rsl24d1	T	A	9: 73,023,698 (GRCm39)	F292I	possibly damaging	Het
Scn10a	C	T	9: 119,477,175 (GRCm39)	V736I	probably damaging	Het
Sim2	A	T	16: 93,905,598 (GRCm39)	T141S	probably benign	Het
Slc6a15	G	T	10: 103,244,067 (GRCm39)	V436L	probably damaging	Het
Smarca2	T	C	19: 26,668,772 (GRCm39)	S924P	probably damaging	Het
Tacc1	T	C	8: 25,671,881 (GRCm39)	E449G	probably benign	Het
Tlr3	A	T	8: 45,852,137 (GRCm39)	N253K	possibly damaging	Het
Tmem198	G	A	1: 75,456,500 (GRCm39)	A82T	probably benign	Het
Tom1l2	A	T	11: 60,133,648 (GRCm39)	L54*	probably null	Het
Trav12-2	A	G	14: 53,854,356 (GRCm39)	Y110C	probably benign	Het
Trdn	T	A	10: 33,209,247 (GRCm39)		probably null	Het
Trpc4	A	T	3: 54,206,599 (GRCm39)	M600L	probably damaging	Het
Trpm2	T	A	10: 77,759,355 (GRCm39)	Q1143L	probably benign	Het
Usp34	T	A	11: 23,283,739 (GRCm39)	D144E	probably benign	Het
Vps18	A	T	2: 119,127,858 (GRCm39)	R894*	probably null	Het
Vwa1	A	G	4: 155,855,369 (GRCm39)	V248A	probably benign	Het
Wdr75	T	C	1: 45,838,211 (GRCm39)	V40A	probably damaging	Het

Other mutations in Trim36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Trim36	APN	18	46,321,455 (GRCm39)	splice site	probably benign
IGL02728:Trim36	APN	18	46,305,669 (GRCm39)	missense	probably benign	0.00
IGL03166:Trim36	APN	18	46,345,388 (GRCm39)	missense	probably benign
IGL03209:Trim36	APN	18	46,300,575 (GRCm39)	missense	probably benign
R0346:Trim36	UTSW	18	46,332,776 (GRCm39)	unclassified	probably benign
R0426:Trim36	UTSW	18	46,305,592 (GRCm39)	missense	probably damaging	0.97
R0463:Trim36	UTSW	18	46,311,523 (GRCm39)	missense	possibly damaging	0.89
R0590:Trim36	UTSW	18	46,305,643 (GRCm39)	missense	probably benign	0.01
R0751:Trim36	UTSW	18	46,329,318 (GRCm39)	missense	probably damaging	1.00
R1037:Trim36	UTSW	18	46,329,385 (GRCm39)	splice site	probably benign
R1184:Trim36	UTSW	18	46,329,318 (GRCm39)	missense	probably damaging	1.00
R1522:Trim36	UTSW	18	46,319,250 (GRCm39)	nonsense	probably null
R1571:Trim36	UTSW	18	46,305,562 (GRCm39)	missense	probably benign	0.01
R1687:Trim36	UTSW	18	46,321,724 (GRCm39)	missense	possibly damaging	0.93
R2057:Trim36	UTSW	18	46,329,229 (GRCm39)	missense	probably benign	0.02
R2103:Trim36	UTSW	18	46,329,149 (GRCm39)	missense	probably benign
R2127:Trim36	UTSW	18	46,345,404 (GRCm39)	missense	probably benign	0.27
R3853:Trim36	UTSW	18	46,305,439 (GRCm39)	splice site	probably benign
R4209:Trim36	UTSW	18	46,329,191 (GRCm39)	missense	probably benign	0.44
R4787:Trim36	UTSW	18	46,305,599 (GRCm39)	missense	probably benign	0.10
R4810:Trim36	UTSW	18	46,305,536 (GRCm39)	missense	probably benign	0.07
R4953:Trim36	UTSW	18	46,329,245 (GRCm39)	missense	possibly damaging	0.90
R5107:Trim36	UTSW	18	46,305,705 (GRCm39)	missense	probably benign
R5683:Trim36	UTSW	18	46,302,359 (GRCm39)	missense	probably damaging	1.00
R5823:Trim36	UTSW	18	46,302,407 (GRCm39)	missense	probably damaging	1.00
R6619:Trim36	UTSW	18	46,321,475 (GRCm39)	missense	probably damaging	0.96
R7349:Trim36	UTSW	18	46,302,495 (GRCm39)	missense	probably benign	0.29
R7814:Trim36	UTSW	18	46,300,691 (GRCm39)	missense	possibly damaging	0.64
R7853:Trim36	UTSW	18	46,305,558 (GRCm39)	missense	probably benign	0.14
R8008:Trim36	UTSW	18	46,305,556 (GRCm39)	missense	probably benign	0.34
R8294:Trim36	UTSW	18	46,331,588 (GRCm39)	missense	probably benign	0.02
R8735:Trim36	UTSW	18	46,302,452 (GRCm39)	missense	probably benign	0.10
R8899:Trim36	UTSW	18	46,302,264 (GRCm39)	missense	possibly damaging	0.69
R9091:Trim36	UTSW	18	46,300,580 (GRCm39)	missense	possibly damaging	0.80
R9106:Trim36	UTSW	18	46,300,664 (GRCm39)	missense	possibly damaging	0.76
R9135:Trim36	UTSW	18	46,302,410 (GRCm39)	missense	probably benign	0.03
R9262:Trim36	UTSW	18	46,300,506 (GRCm39)	missense	probably benign	0.01
R9270:Trim36	UTSW	18	46,300,580 (GRCm39)	missense	possibly damaging	0.80
R9505:Trim36	UTSW	18	46,329,281 (GRCm39)	missense	probably damaging	1.00
R9587:Trim36	UTSW	18	46,308,722 (GRCm39)	missense	probably benign	0.06
R9623:Trim36	UTSW	18	46,308,623 (GRCm39)	missense	probably benign	0.16
R9763:Trim36	UTSW	18	46,309,125 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- CAGTACAAACAGGTGTGGTGAC -3'
(R):5'- CGAGGACGCCTGTTTTGATTC -3'

Sequencing Primer
(F):5'- TGGTGACAGAGACGTAAATGATATG -3'
(R):5'- GAGGACGCCTGTTTTGATTCTTCAC -3'

Posted On

2016-07-22