Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02728:Trim36'

305318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim36

Ensembl Gene

ENSMUSG00000033949

Gene Name

tripartite motif-containing 36

Synonyms

Haprin, D18Wsu100e

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

IGL02728

Quality Score

Status

Chromosome

Chromosomal Location

46298367-46345674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46305669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 426 (H426L)

Ref Sequence

ENSEMBL: ENSMUSP00000129771 (fasta)

Gene Model

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

AlphaFold

Q80WG7

Predicted Effect

probably benign
Transcript: ENSMUST00000037011
AA Change: H438L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
AA Change: H438L

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 benign
Transcript: ENSMUST00000167364
AA Change: H426L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
AA Change: H426L

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

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,073,880 (GRCm39)		probably benign	Het
Als2	A	G	1: 59,235,506 (GRCm39)	V726A	probably benign	Het
Apba1	G	A	19: 23,922,269 (GRCm39)	G779E	possibly damaging	Het
Atr	T	A	9: 95,818,528 (GRCm39)	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,983,846 (GRCm39)	K566E	probably damaging	Het
Btd	T	C	14: 31,389,319 (GRCm39)	F347L	probably benign	Het
Btg2	T	C	1: 134,006,643 (GRCm39)		probably benign	Het
Cblb	T	A	16: 52,003,672 (GRCm39)	S717T	probably benign	Het
Cep250	T	A	2: 155,825,198 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,828,968 (GRCm39)	N312S	probably benign	Het
Clasp1	A	T	1: 118,530,107 (GRCm39)	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,813,172 (GRCm39)	C2906S	probably benign	Het
Csmd1	C	T	8: 16,049,779 (GRCm39)		probably null	Het
Cspg4	T	A	9: 56,793,765 (GRCm39)	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,126,739 (GRCm39)	D469V	probably damaging	Het
Dhh	A	T	15: 98,792,192 (GRCm39)		probably null	Het
Dhrs3	A	G	4: 144,646,642 (GRCm39)	R231G	probably damaging	Het
Disp3	A	G	4: 148,356,495 (GRCm39)	S122P	probably damaging	Het
Dnah1	T	C	14: 31,005,955 (GRCm39)	I2275V	probably benign	Het
Dock8	A	C	19: 25,109,584 (GRCm39)	N922T	probably benign	Het
Eef1d	A	G	15: 75,774,945 (GRCm39)	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,763,510 (GRCm39)	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,505,502 (GRCm39)		probably benign	Het
Emb	A	G	13: 117,369,301 (GRCm39)	M50V	probably benign	Het
Eml4	T	C	17: 83,780,568 (GRCm39)		probably null	Het
Fkbp10	G	T	11: 100,306,803 (GRCm39)	R65L	probably damaging	Het
Gm5878	T	C	6: 85,095,574 (GRCm39)	N83S	probably benign	Het
Gm8165	C	T	14: 43,913,694 (GRCm39)	A57T	unknown	Het
Gpr179	A	G	11: 97,228,726 (GRCm39)	V1143A	probably damaging	Het
Hat1	T	C	2: 71,251,604 (GRCm39)	Y218H	probably damaging	Het
Hfm1	T	A	5: 107,026,689 (GRCm39)	N885I	probably benign	Het
Ift70a1	T	A	2: 75,811,193 (GRCm39)	M297L	probably benign	Het
Inha	T	C	1: 75,486,091 (GRCm39)	S129P	probably damaging	Het
Ints9	T	C	14: 65,230,457 (GRCm39)	I128T	probably damaging	Het
Klra9	T	C	6: 130,168,149 (GRCm39)		probably null	Het
Lrba	A	G	3: 86,683,356 (GRCm39)	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,691,410 (GRCm39)	N3356D	probably benign	Het
Map3k5	A	G	10: 19,994,038 (GRCm39)	D1008G	possibly damaging	Het
Med4	T	A	14: 73,755,415 (GRCm39)	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,557,716 (GRCm39)	V254A	possibly damaging	Het
Napg	C	T	18: 63,127,375 (GRCm39)		probably benign	Het
Or1j11	T	C	2: 36,312,156 (GRCm39)	S249P	possibly damaging	Het
Or5k1	C	T	16: 58,617,843 (GRCm39)	R122H	probably benign	Het
Or7g33	A	G	9: 19,449,142 (GRCm39)	F28S	possibly damaging	Het
Or8d2	T	C	9: 38,760,222 (GRCm39)	S271P	probably damaging	Het
Or9r3	T	A	10: 129,948,487 (GRCm39)	R57S	probably damaging	Het
Pias1	T	A	9: 62,830,926 (GRCm39)	S161C	probably damaging	Het
Pias1	G	T	9: 62,830,927 (GRCm39)	N160K	possibly damaging	Het
Pigp	G	A	16: 94,168,466 (GRCm39)	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,020,065 (GRCm39)	V1070E	probably benign	Het
Pramel51	G	T	12: 88,142,792 (GRCm39)	H275Q	probably benign	Het
Prepl	T	C	17: 85,378,010 (GRCm39)	T457A	probably damaging	Het
Psg23	G	A	7: 18,340,853 (GRCm39)	A467V	probably benign	Het
Rad54l	T	C	4: 115,980,146 (GRCm39)	R13G	probably benign	Het
Rassf5	T	C	1: 131,108,336 (GRCm39)	D248G	probably damaging	Het
Rspo1	A	G	4: 124,898,955 (GRCm39)	N92S	probably damaging	Het
Scube1	G	A	15: 83,543,217 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,511,554 (GRCm39)	V616F	probably damaging	Het
Sema3a	T	C	5: 13,615,881 (GRCm39)	V435A	probably damaging	Het
Slc7a10	T	A	7: 34,897,123 (GRCm39)	I208N	probably damaging	Het
Stab2	A	T	10: 86,692,420 (GRCm39)	M2151K	possibly damaging	Het
Tacc1	T	C	8: 25,665,235 (GRCm39)	D50G	probably damaging	Het
Tas2r121	G	T	6: 132,677,480 (GRCm39)	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,681,676 (GRCm39)	W570R	probably damaging	Het
Telo2	A	T	17: 25,323,628 (GRCm39)	F600I	probably damaging	Het
Trpm6	A	T	19: 18,787,016 (GRCm39)	N531Y	possibly damaging	Het
Ttc39a	T	C	4: 109,299,920 (GRCm39)	C470R	probably damaging	Het
Ttn	C	T	2: 76,615,283 (GRCm39)	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,196,122 (GRCm39)	I1253F	probably damaging	Het
Unc79	A	T	12: 103,088,688 (GRCm39)	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,691,998 (GRCm39)	C89S	probably benign	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	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
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
R5320:Trim36	UTSW	18	46,300,565 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16