Mutagenetix > Incidental Mutation

Incidental Mutation 'R2107:Trim37'

232187

Institutional Source

Beutler Lab

Gene Symbol

Trim37

Ensembl Gene

ENSMUSG00000018548

Gene Name

tripartite motif-containing 37

Synonyms

MUL, TEF3, 1110032A10Rik, 2810004E07Rik

MMRRC Submission

040111-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87017903-87111509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87050651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 230 (R230Q)

Ref Sequence

ENSEMBL: ENSMUSP00000049057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041282]

AlphaFold

Q6PCX9

Predicted Effect

probably benign
Transcript: ENSMUST00000041282
AA Change: R230Q

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: R230Q

Domain	Start	End	E-Value	Type
RING	15	54	1.71e-1	SMART
BBOX	90	132	7.32e-12	SMART
BBC	132	254	3.05e-31	SMART
MATH	281	384	1.51e-13	SMART
low complexity region	494	504	N/A	INTRINSIC
low complexity region	516	529	N/A	INTRINSIC
low complexity region	535	545	N/A	INTRINSIC
low complexity region	579	588	N/A	INTRINSIC
low complexity region	612	626	N/A	INTRINSIC
low complexity region	795	808	N/A	INTRINSIC

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: The protein encoded by this gene is part of the tripartite-motif containing family (TRIM), which is typified by the RING, B-box type 1, B-box type 2, and coiled-coil region domains. In mouse this protein is proposed to oligomerize through its coiled coil domain and has been reported to be expressed in neural crest-derived tissues as well as in tissues whose development is regulated by mesenchymal-epithelial interactions. In humans, mutations in this gene are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder characterized by prenatal onset growth failure, cardiomyopathy and dysmorphic features. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are infertile due to gonadal degeneration and exhibit late-onset weight loss, smaller skull size, non-compaction cardiomyopathy, hepatomegaly, fatty liver, altered glucose metabolism, splenomegaly, and increased tumor incidence. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Gene trapped(7)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,685,744 (GRCm39)	L364Q	probably damaging	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Acp2	G	A	2: 91,033,940 (GRCm39)		probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Cblb	T	A	16: 51,973,079 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,887,808 (GRCm39)	D1557E	probably benign	Het
Cdc20	T	C	4: 118,290,710 (GRCm39)	Y430C	probably damaging	Het
Cdk5rap1	C	T	2: 154,195,166 (GRCm39)	D350N	probably benign	Het
Cgrrf1	T	A	14: 47,090,833 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,036,156 (GRCm39)	Y185*	probably null	Het
Cmtm8	A	T	9: 114,625,176 (GRCm39)	V85D	possibly damaging	Het
Cplx4	A	G	18: 66,089,964 (GRCm39)	S152P	probably benign	Het
Crmp1	G	T	5: 37,399,838 (GRCm39)	R117L	probably benign	Het
Csad	G	C	15: 102,087,469 (GRCm39)	L365V	probably null	Het
Dyrk1a	C	T	16: 94,487,386 (GRCm39)	T532M	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fan1	T	G	7: 64,016,536 (GRCm39)	R529S	probably damaging	Het
Fbln5	A	G	12: 101,737,528 (GRCm39)	W173R	probably damaging	Het
Gm9611	A	T	14: 42,116,611 (GRCm39)	N42K	possibly damaging	Het
Gnal	T	A	18: 67,346,649 (GRCm39)	L257Q	probably damaging	Het
Hint3	A	T	10: 30,494,252 (GRCm39)	F33I	probably damaging	Het
Ipcef1	A	G	10: 6,840,501 (GRCm39)	S403P	probably benign	Het
Kmt2c	T	C	5: 25,514,822 (GRCm39)	N3007S	probably benign	Het
Kpna3	T	C	14: 61,607,933 (GRCm39)	D424G	possibly damaging	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lamc2	A	G	1: 153,030,132 (GRCm39)		probably benign	Het
Lmtk3	G	T	7: 45,443,393 (GRCm39)	C692F	possibly damaging	Het
Lrguk	T	C	6: 34,039,296 (GRCm39)	M269T	probably benign	Het
Lrrc19	T	A	4: 94,527,531 (GRCm39)	T227S	probably benign	Het
Lrrk1	C	A	7: 65,929,030 (GRCm39)	D1201Y	probably damaging	Het
Matn2	T	A	15: 34,423,905 (GRCm39)	Y588N	probably damaging	Het
Mmp1b	A	G	9: 7,369,310 (GRCm39)	W346R	probably damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nedd9	A	T	13: 41,492,455 (GRCm39)	C12*	probably null	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nisch	C	T	14: 30,894,097 (GRCm39)	V172I	probably damaging	Het
Npy2r	A	T	3: 82,448,436 (GRCm39)		probably null	Het
Ogg1	C	A	6: 113,306,254 (GRCm39)	N150K	probably damaging	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or1p1	T	C	11: 74,180,216 (GRCm39)	V248A	probably damaging	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Pck1	G	C	2: 172,995,861 (GRCm39)	E120Q	probably benign	Het
Pde11a	A	G	2: 76,168,266 (GRCm39)	V229A	probably damaging	Het
Pias2	T	C	18: 77,185,167 (GRCm39)	F83L	probably benign	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Plin3	A	T	17: 56,591,391 (GRCm39)	S130T	probably benign	Het
Rcc2	A	G	4: 140,448,496 (GRCm39)	Y515C	probably damaging	Het
Rgs12	A	G	5: 35,124,079 (GRCm39)	K621E	possibly damaging	Het
Rnf6	G	A	5: 146,148,091 (GRCm39)	T309I	probably damaging	Het
Rpusd3	G	T	6: 113,392,523 (GRCm39)	T335N	probably damaging	Het
Scn8a	A	T	15: 100,916,244 (GRCm39)	I1218F	probably damaging	Het
Slc23a1	T	A	18: 35,758,879 (GRCm39)	Q104L	possibly damaging	Het
Slc34a3	A	T	2: 25,120,999 (GRCm39)	V363D	probably damaging	Het
Smap1	A	T	1: 23,887,535 (GRCm39)	M248K	possibly damaging	Het
Sp1	A	G	15: 102,318,113 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,744 (GRCm39)		probably null	Het
Tbc1d1	T	G	5: 64,442,048 (GRCm39)	N689K	probably benign	Het
Tff2	T	C	17: 31,361,256 (GRCm39)	E99G	possibly damaging	Het
Tjp3	T	C	10: 81,116,378 (GRCm39)	N239D	possibly damaging	Het
Ubr5	A	G	15: 37,989,546 (GRCm39)	M2090T	probably benign	Het
Unc13a	T	C	8: 72,108,895 (GRCm39)		probably null	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vav2	T	C	2: 27,157,315 (GRCm39)	E829G	probably damaging	Het
Vps35l	T	C	7: 118,393,762 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,353,533 (GRCm39)	D85E	probably benign	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	Het

Other mutations in Trim37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Trim37	APN	11	87,077,219 (GRCm39)	missense	probably damaging	1.00
IGL01372:Trim37	APN	11	87,075,772 (GRCm39)	missense	probably benign	0.00
IGL01510:Trim37	APN	11	87,068,686 (GRCm39)	missense	probably damaging	1.00
IGL02055:Trim37	APN	11	87,057,475 (GRCm39)	missense	probably benign	0.44
IGL02106:Trim37	APN	11	87,092,230 (GRCm39)	nonsense	probably null
IGL02251:Trim37	APN	11	87,058,256 (GRCm39)	splice site	probably benign
IGL02498:Trim37	APN	11	87,075,876 (GRCm39)	missense	probably benign
IGL02836:Trim37	APN	11	87,087,785 (GRCm39)	missense	probably benign	0.01
IGL03089:Trim37	APN	11	87,080,963 (GRCm39)	missense	probably damaging	1.00
IGL03302:Trim37	APN	11	87,037,827 (GRCm39)	missense	possibly damaging	0.89
IGL03347:Trim37	APN	11	87,092,447 (GRCm39)	missense	possibly damaging	0.80
G5030:Trim37	UTSW	11	87,033,967 (GRCm39)	missense	probably damaging	0.96
R0396:Trim37	UTSW	11	87,037,794 (GRCm39)	missense	probably damaging	1.00
R0544:Trim37	UTSW	11	87,036,328 (GRCm39)	nonsense	probably null
R0946:Trim37	UTSW	11	87,037,781 (GRCm39)	missense	probably damaging	0.99
R1481:Trim37	UTSW	11	87,020,585 (GRCm39)	nonsense	probably null
R1799:Trim37	UTSW	11	87,068,845 (GRCm39)	missense	probably damaging	1.00
R1851:Trim37	UTSW	11	87,109,132 (GRCm39)	missense	probably damaging	1.00
R3878:Trim37	UTSW	11	87,096,828 (GRCm39)	missense	probably benign	0.10
R4049:Trim37	UTSW	11	87,031,429 (GRCm39)	critical splice donor site	probably null
R4224:Trim37	UTSW	11	87,107,289 (GRCm39)	missense	probably damaging	1.00
R4486:Trim37	UTSW	11	87,087,651 (GRCm39)	missense	probably benign	0.31
R5244:Trim37	UTSW	11	87,109,083 (GRCm39)	missense	probably benign	0.10
R5343:Trim37	UTSW	11	87,028,429 (GRCm39)	missense	probably damaging	0.98
R5417:Trim37	UTSW	11	87,057,505 (GRCm39)	missense	probably damaging	1.00
R5894:Trim37	UTSW	11	87,092,266 (GRCm39)	missense	probably damaging	0.99
R5911:Trim37	UTSW	11	87,087,663 (GRCm39)	nonsense	probably null
R5957:Trim37	UTSW	11	87,036,377 (GRCm39)	missense	probably damaging	1.00
R6159:Trim37	UTSW	11	87,107,374 (GRCm39)	critical splice donor site	probably null
R6479:Trim37	UTSW	11	87,107,313 (GRCm39)	nonsense	probably null
R6527:Trim37	UTSW	11	87,080,910 (GRCm39)	missense	probably damaging	1.00
R7021:Trim37	UTSW	11	87,058,335 (GRCm39)	missense	probably benign	0.01
R7734:Trim37	UTSW	11	87,068,821 (GRCm39)	missense	probably damaging	1.00
R7849:Trim37	UTSW	11	87,092,270 (GRCm39)	missense	possibly damaging	0.87
R7938:Trim37	UTSW	11	87,037,863 (GRCm39)	missense	probably benign	0.05
R7968:Trim37	UTSW	11	87,040,179 (GRCm39)	missense	possibly damaging	0.47
R8046:Trim37	UTSW	11	87,037,794 (GRCm39)	missense	possibly damaging	0.89
R8112:Trim37	UTSW	11	87,109,093 (GRCm39)	missense	possibly damaging	0.80
R8735:Trim37	UTSW	11	87,037,885 (GRCm39)	critical splice donor site	probably null
R8770:Trim37	UTSW	11	87,050,675 (GRCm39)	missense	probably damaging	1.00
R8911:Trim37	UTSW	11	87,097,629 (GRCm39)	missense	possibly damaging	0.89
R9234:Trim37	UTSW	11	87,036,393 (GRCm39)	missense	possibly damaging	0.95
R9332:Trim37	UTSW	11	87,058,328 (GRCm39)	missense	possibly damaging	0.94
R9346:Trim37	UTSW	11	87,057,426 (GRCm39)	critical splice acceptor site	probably null
R9431:Trim37	UTSW	11	87,077,257 (GRCm39)	missense	probably benign	0.34
Z1177:Trim37	UTSW	11	87,075,869 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACTATACATTACCCGCTTTCCT -3'
(R):5'- TCAAGTATCTGCCTTGATATACAAAC -3'

Sequencing Primer
(F):5'- AGCCTTGGTTAACCTGGAAC -3'
(R):5'- TTCGGTGAACTTGCTGGA -3'

Posted On

2014-09-18