Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02138:Trim44'

281391

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim44

Ensembl Gene

ENSMUSG00000027189

Gene Name

tripartite motif-containing 44

Synonyms

DIPB, Mc7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL02138

Quality Score

Status

Chromosome

Chromosomal Location

102130464-102231541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102211253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 236 (I236V)

Ref Sequence

ENSEMBL: ENSMUSP00000099633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102573] [ENSMUST00000144110]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000102573
AA Change: I236V

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099633
Gene: ENSMUSG00000027189
AA Change: I236V

Domain	Start	End	E-Value	Type
Blast:BBOX	13	57	2e-11	BLAST
coiled coil region	125	153	N/A	INTRINSIC
BBOX	175	216	1.48e-7	SMART
coiled coil region	295	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144110
AA Change: I2V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119847
Gene: ENSMUSG00000027189
AA Change: I2V

Domain	Start	End	E-Value	Type
coiled coil region	61	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152929

SMART Domains

Protein: ENSMUSP00000116958
Gene: ENSMUSG00000027189

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
BBOX	33	74	1.48e-7	SMART
coiled coil region	126	157	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	G	14: 32,384,672 (GRCm39)	D431A	possibly damaging	Het
Adgrb1	T	C	15: 74,401,631 (GRCm39)	M209T	probably damaging	Het
Ano8	T	C	8: 71,937,486 (GRCm39)	H86R	probably damaging	Het
Camk1d	G	T	2: 5,449,895 (GRCm39)	Y87*	probably null	Het
Capza3	A	G	6: 139,987,872 (GRCm39)	D157G	probably benign	Het
Ckmt2	A	T	13: 92,009,947 (GRCm39)	D124E	probably benign	Het
Col14a1	C	A	15: 55,284,231 (GRCm39)	Q831K	unknown	Het
Copb2	C	T	9: 98,469,605 (GRCm39)	P829S	probably benign	Het
Dlg5	A	G	14: 24,208,419 (GRCm39)	V929A	probably benign	Het
Dolk	A	G	2: 30,175,991 (GRCm39)	V18A	probably benign	Het
Ecm2	G	T	13: 49,676,304 (GRCm39)	L340F	probably damaging	Het
Hacl1	A	G	14: 31,352,940 (GRCm39)	L149P	probably benign	Het
Higd2a	A	T	13: 54,738,235 (GRCm39)		probably null	Het
Hspa12a	A	T	19: 58,816,730 (GRCm39)	S28R	probably benign	Het
Igkv5-37	A	G	6: 69,940,435 (GRCm39)	Y70H	probably damaging	Het
Iho1	G	A	9: 108,283,820 (GRCm39)	T208I	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Kif26a	T	C	12: 112,141,284 (GRCm39)	S696P	probably damaging	Het
Kng1	A	T	16: 22,886,558 (GRCm39)	N168Y	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lepr	A	G	4: 101,625,264 (GRCm39)	D473G	probably damaging	Het
Lipt1	G	A	1: 37,914,867 (GRCm39)	E308K	possibly damaging	Het
Luc7l3	A	T	11: 94,194,792 (GRCm39)	F76Y	probably benign	Het
Mapk1	A	G	16: 16,841,316 (GRCm39)	I163V	probably benign	Het
Matn3	A	G	12: 9,017,638 (GRCm39)	E430G	possibly damaging	Het
Med13	A	T	11: 86,177,591 (GRCm39)	S1502T	probably damaging	Het
Mlf1	A	T	3: 67,307,046 (GRCm39)	H237L	probably benign	Het
Mss51	A	C	14: 20,534,923 (GRCm39)	Y282*	probably null	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or7d11	A	T	9: 19,966,196 (GRCm39)	S188T	probably benign	Het
Phrf1	T	A	7: 140,839,196 (GRCm39)		probably benign	Het
Ppme1	C	T	7: 99,983,139 (GRCm39)	M335I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sntg2	T	A	12: 30,357,230 (GRCm39)		probably null	Het
Spryd3	T	C	15: 102,027,354 (GRCm39)		probably benign	Het
Srpx	A	G	X: 9,933,662 (GRCm39)		probably null	Het
St8sia1	G	T	6: 142,909,504 (GRCm39)		probably benign	Het
Stab1	A	G	14: 30,865,470 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,000,047 (GRCm39)	S976R	probably benign	Het
Sycp2	T	A	2: 178,043,783 (GRCm39)	K108*	probably null	Het
Tagap1	T	C	17: 7,223,485 (GRCm39)	T404A	probably damaging	Het
Tg	C	T	15: 66,589,082 (GRCm39)	T21I	probably benign	Het
Tlr4	A	T	4: 66,759,202 (GRCm39)	Y665F	probably damaging	Het
Tmc8	T	G	11: 117,682,081 (GRCm39)	S525A	probably benign	Het
Tor4a	A	T	2: 25,084,810 (GRCm39)	D364E	probably benign	Het
Ube2o	A	G	11: 116,434,226 (GRCm39)		probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Xirp2	A	T	2: 67,347,300 (GRCm39)	R3180S	probably benign	Het
Zfp335	A	G	2: 164,735,724 (GRCm39)	C1077R	probably damaging	Het

Other mutations in Trim44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Trim44	APN	2	102,134,824 (GRCm39)	makesense	probably null
IGL01328:Trim44	APN	2	102,230,365 (GRCm39)	missense	probably benign	0.34
IGL01925:Trim44	APN	2	102,230,362 (GRCm39)	missense	probably benign	0.30
IGL02033:Trim44	APN	2	102,230,521 (GRCm39)	missense	possibly damaging	0.56
IGL02824:Trim44	APN	2	102,230,540 (GRCm39)	missense	possibly damaging	0.85
R0760:Trim44	UTSW	2	102,230,905 (GRCm39)	unclassified	probably benign
R1695:Trim44	UTSW	2	102,187,830 (GRCm39)	missense	possibly damaging	0.93
R2008:Trim44	UTSW	2	102,230,722 (GRCm39)	unclassified	probably benign
R5366:Trim44	UTSW	2	102,230,476 (GRCm39)	missense	probably damaging	0.97
R7253:Trim44	UTSW	2	102,177,313 (GRCm39)	missense	possibly damaging	0.79
R7812:Trim44	UTSW	2	102,230,489 (GRCm39)	missense	possibly damaging	0.72
R8129:Trim44	UTSW	2	102,230,848 (GRCm39)	missense	unknown
R8387:Trim44	UTSW	2	102,230,518 (GRCm39)	missense	probably damaging	1.00
R8742:Trim44	UTSW	2	102,230,521 (GRCm39)	missense	possibly damaging	0.56
R9469:Trim44	UTSW	2	102,230,651 (GRCm39)	missense	unknown
R9470:Trim44	UTSW	2	102,230,651 (GRCm39)	missense	unknown
R9471:Trim44	UTSW	2	102,230,651 (GRCm39)	missense	unknown
R9562:Trim44	UTSW	2	102,187,827 (GRCm39)	missense	probably benign	0.16
R9565:Trim44	UTSW	2	102,187,827 (GRCm39)	missense	probably benign	0.16
R9711:Trim44	UTSW	2	102,230,813 (GRCm39)	missense	unknown

Posted On

2015-04-16