Mutagenetix > Incidental Mutation

Incidental Mutation 'R1799:Trim37'

202957

Institutional Source

Beutler Lab

Gene Symbol

Trim37

Ensembl Gene

ENSMUSG00000018548

Gene Name

tripartite motif-containing 37

Synonyms

MUL, TEF3, 1110032A10Rik, 2810004E07Rik

MMRRC Submission

039829-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1799 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87017903-87111509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87068845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 397 (V397E)

Ref Sequence

ENSEMBL: ENSMUSP00000049057 (fasta)

Gene Model

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

AlphaFold

Q6PCX9

Predicted Effect

probably damaging
Transcript: ENSMUST00000041282
AA Change: V397E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049057
Gene: ENSMUSG00000018548
AA Change: V397E

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,382,435 (GRCm39)	L271P	probably benign	Het
Adamts3	A	C	5: 89,923,280 (GRCm39)	D175E	probably benign	Het
Adcy4	T	C	14: 56,008,929 (GRCm39)	T833A	probably benign	Het
Adgrf5	A	T	17: 43,750,958 (GRCm39)	I508F	probably damaging	Het
Arhgap9	G	T	10: 127,163,593 (GRCm39)	V464L	probably damaging	Het
Atp10a	T	A	7: 58,474,182 (GRCm39)	D1156E	probably damaging	Het
Atp2a1	A	T	7: 126,049,314 (GRCm39)	M576K	probably benign	Het
Atrx	T	C	X: 104,891,235 (GRCm39)	Q1536R	probably damaging	Het
Ccdc141	A	C	2: 76,842,015 (GRCm39)	V1472G	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Celsr1	G	T	15: 85,916,886 (GRCm39)	N362K	probably damaging	Het
Cep290	G	A	10: 100,352,058 (GRCm39)	A755T	probably benign	Het
Cfap70	T	A	14: 20,445,067 (GRCm39)	E1071V	probably damaging	Het
Cps1	T	C	1: 67,248,801 (GRCm39)	V1176A	probably damaging	Het
Csf2rb2	A	C	15: 78,181,268 (GRCm39)	N41K	probably damaging	Het
Csn1s2a	G	A	5: 87,926,052 (GRCm39)	V43M	probably damaging	Het
Cyp26b1	T	C	6: 84,561,254 (GRCm39)	D136G	probably benign	Het
Cyp7b1	A	G	3: 18,151,616 (GRCm39)	L199P	probably benign	Het
Dapk1	C	T	13: 60,867,468 (GRCm39)	T225I	probably damaging	Het
Dio2	T	A	12: 90,696,680 (GRCm39)	T103S	probably benign	Het
Dipk1a	C	A	5: 108,057,713 (GRCm39)	V237F	probably damaging	Het
Dnhd1	T	A	7: 105,304,974 (GRCm39)	S339T	probably benign	Het
Drc1	A	G	5: 30,523,841 (GRCm39)	N737D	probably damaging	Het
Efhc1	C	T	1: 21,049,762 (GRCm39)	P541S	probably benign	Het
Elmo2	A	T	2: 165,134,077 (GRCm39)	I637N	probably damaging	Het
Eps15	T	A	4: 109,240,034 (GRCm39)	D492E	probably damaging	Het
Ermn	G	T	2: 57,938,249 (GRCm39)	N121K	probably benign	Het
F5	A	G	1: 164,021,100 (GRCm39)	T1192A	possibly damaging	Het
Fbxo22	T	C	9: 55,130,771 (GRCm39)	F347L	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Foxj3	A	G	4: 119,476,548 (GRCm39)	N242S	probably benign	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Grm4	A	G	17: 27,691,914 (GRCm39)	V235A	probably damaging	Het
Gstm4	T	C	3: 107,950,874 (GRCm39)	N74S	probably damaging	Het
Gtf3c3	A	G	1: 54,459,583 (GRCm39)	V393A	possibly damaging	Het
Hltf	T	A	3: 20,159,855 (GRCm39)	L702H	probably damaging	Het
Inpp4a	T	A	1: 37,432,059 (GRCm39)	V153E	possibly damaging	Het
Kmt5c	T	C	7: 4,745,729 (GRCm39)		probably null	Het
Kynu	A	G	2: 43,494,169 (GRCm39)	R201G	possibly damaging	Het
Lrp2	T	A	2: 69,333,874 (GRCm39)	T1456S	probably benign	Het
Lrrc40	G	A	3: 157,742,441 (GRCm39)	V19I	probably benign	Het
M1ap	T	A	6: 82,982,491 (GRCm39)	C258*	probably null	Het
Man2a1	T	C	17: 65,059,452 (GRCm39)	L1113P	probably benign	Het
Man2a1	C	T	17: 64,976,492 (GRCm39)	R427W	probably damaging	Het
Meikin	C	A	11: 54,308,613 (GRCm39)	Q404K	probably benign	Het
Mfsd4a	T	C	1: 131,981,334 (GRCm39)	I222V	possibly damaging	Het
N4bp2	A	G	5: 65,964,168 (GRCm39)	N739S	possibly damaging	Het
Ncoa2	A	T	1: 13,232,517 (GRCm39)		probably null	Het
Nisch	G	T	14: 30,899,228 (GRCm39)		probably benign	Het
Nmur2	A	G	11: 55,920,447 (GRCm39)	V266A	probably damaging	Het
Npcd	G	A	15: 79,712,987 (GRCm39)	R147C	probably damaging	Het
Or4q3	T	A	14: 50,583,537 (GRCm39)	M121L	probably benign	Het
Or5ac25	T	A	16: 59,182,243 (GRCm39)	I113F	probably benign	Het
Pals2	T	A	6: 50,173,525 (GRCm39)	M463K	probably damaging	Het
Parp4	A	T	14: 56,885,589 (GRCm39)	H1556L	unknown	Het
Pcdh9	G	T	14: 94,126,107 (GRCm39)	A21E	probably benign	Het
Phtf1	A	G	3: 103,903,958 (GRCm39)	E436G	probably benign	Het
Piezo2	C	A	18: 63,165,911 (GRCm39)		probably null	Het
Piezo2	T	C	18: 63,241,158 (GRCm39)	Y690C	probably damaging	Het
Pla2g4f	T	C	2: 120,141,549 (GRCm39)	R183G	possibly damaging	Het
Plxnd1	T	C	6: 115,971,018 (GRCm39)	D250G	probably damaging	Het
Ppig	A	G	2: 69,579,744 (GRCm39)	D426G	unknown	Het
Ppp3cb	T	C	14: 20,574,540 (GRCm39)	E185G	possibly damaging	Het
Qsox1	A	T	1: 155,670,364 (GRCm39)	M151K	probably null	Het
Ralgapa2	T	C	2: 146,184,648 (GRCm39)	E1453G	probably benign	Het
Rnf167	G	A	11: 70,540,838 (GRCm39)	V191I	probably benign	Het
Rp1	T	C	1: 4,419,055 (GRCm39)	K686E	possibly damaging	Het
Ryr1	T	G	7: 28,767,046 (GRCm39)	Q2979P	probably damaging	Het
Scaf1	T	A	7: 44,657,443 (GRCm39)	I479F	probably damaging	Het
Septin8	A	G	11: 53,425,310 (GRCm39)	T68A	probably benign	Het
Sh3rf1	A	T	8: 61,825,661 (GRCm39)	N552I	probably damaging	Het
Shoc1	A	T	4: 59,099,383 (GRCm39)	V103D	possibly damaging	Het
Slc1a3	A	G	15: 8,717,888 (GRCm39)	L68P	probably damaging	Het
Slc39a6	G	A	18: 24,718,524 (GRCm39)	P511L	probably benign	Het
Slc9c1	A	G	16: 45,374,652 (GRCm39)	Y339C	probably damaging	Het
Smarcal1	G	T	1: 72,625,120 (GRCm39)	C89F	probably damaging	Het
Smu1	A	T	4: 40,745,537 (GRCm39)	M261K	probably damaging	Het
Spag8	T	G	4: 43,653,087 (GRCm39)		probably benign	Het
Spag8	T	C	4: 43,653,345 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,851,216 (GRCm39)	D304G	probably benign	Het
Spdl1	A	T	11: 34,711,856 (GRCm39)	L298*	probably null	Het
Stac2	C	T	11: 97,930,444 (GRCm39)		probably null	Het
Stag1	A	G	9: 100,835,515 (GRCm39)		probably null	Het
Stpg2	C	T	3: 139,125,542 (GRCm39)	P445L	probably damaging	Het
Sult2a8	A	T	7: 14,157,451 (GRCm39)	V128E	probably damaging	Het
Synm	A	G	7: 67,385,707 (GRCm39)	F210L	probably damaging	Het
Tbck	C	G	3: 132,480,263 (GRCm39)	A714G	probably benign	Het
Tcerg1	A	T	18: 42,694,012 (GRCm39)	Y711F	possibly damaging	Het
Tnfrsf25	A	G	4: 152,201,465 (GRCm39)	T98A	probably benign	Het
Togaram2	T	C	17: 71,998,450 (GRCm39)	S218P	probably damaging	Het
Tpp1	A	T	7: 105,399,515 (GRCm39)	D84E	probably benign	Het
Trim30d	G	T	7: 104,132,682 (GRCm39)	Q202K	probably damaging	Het
Triml1	A	T	8: 43,583,512 (GRCm39)	I363N	probably damaging	Het
Trpm6	T	A	19: 18,869,363 (GRCm39)		probably null	Het
Tsc2	T	C	17: 24,823,382 (GRCm39)	S1055G	probably benign	Het
Ubr5	T	C	15: 37,989,621 (GRCm39)	D2065G	probably damaging	Het
Uggt2	G	T	14: 119,269,688 (GRCm39)	P948Q	probably benign	Het
Vps13c	A	T	9: 67,851,399 (GRCm39)	S2345C	probably damaging	Het
Wtap	G	T	17: 13,199,771 (GRCm39)	R48S	possibly damaging	Het
Zbtb38	A	G	9: 96,570,934 (GRCm39)	V50A	probably damaging	Het
Zcchc2	T	A	1: 105,958,017 (GRCm39)	S829R	probably benign	Het
Zfp385b	T	C	2: 77,246,316 (GRCm39)	D237G	probably benign	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
R1851:Trim37	UTSW	11	87,109,132 (GRCm39)	missense	probably damaging	1.00
R2107:Trim37	UTSW	11	87,050,651 (GRCm39)	missense	probably benign	0.04
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'- TGATATGTTTTGAACAGAGTTCCG -3'
(R):5'- GTTGGTACAGAGCATCCCTC -3'

Sequencing Primer
(F):5'- GTTTTGAACAGAGTTCCGTTATTTTC -3'
(R):5'- GTAGACCTGGCTATTCTGGAATTCAC -3'

Posted On

2014-06-23