Mutagenetix > Incidental Mutation

Incidental Mutation 'R8387:Trim44'

647190

Institutional Source

Beutler Lab

Gene Symbol

Trim44

Ensembl Gene

ENSMUSG00000027189

Gene Name

tripartite motif-containing 44

Synonyms

DIPB, Mc7

MMRRC Submission

067876-MU

Accession Numbers

Essential gene?

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

Stock #

R8387 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102130464-102231541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102230518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 171 (E171G)

Ref Sequence

ENSEMBL: ENSMUSP00000099633 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000102573
AA Change: E171G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099633
Gene: ENSMUSG00000027189
AA Change: E171G

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

SMART Domains

Protein: ENSMUSP00000119847
Gene: ENSMUSG00000027189

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116958
Gene: ENSMUSG00000027189
AA Change: E28G

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,874,698 (GRCm39)	D453N	probably damaging	Het
Arl14ep	T	C	2: 106,799,562 (GRCm39)	D93G	probably damaging	Het
Bcl7b	T	C	5: 135,197,413 (GRCm39)	I18T	probably damaging	Het
Cdh1	A	G	8: 107,390,501 (GRCm39)	I614V	probably benign	Het
Cpa3	T	C	3: 20,281,400 (GRCm39)	I169V	probably benign	Het
Cpeb4	T	C	11: 31,858,877 (GRCm39)		probably null	Het
Csmd1	G	A	8: 16,050,484 (GRCm39)	H2251Y	possibly damaging	Het
Dab2ip	T	A	2: 35,609,870 (GRCm39)	I695K	probably damaging	Het
Dhtkd1	C	A	2: 5,934,479 (GRCm39)	L230F	possibly damaging	Het
Emc1	T	C	4: 139,088,600 (GRCm39)	S353P	probably benign	Het
Erc2	T	A	14: 27,375,253 (GRCm39)	L157Q	possibly damaging	Het
Flvcr1	A	G	1: 190,743,731 (GRCm39)		probably null	Het
Fryl	A	C	5: 73,293,663 (GRCm39)		probably null	Het
Gnl2	T	C	4: 124,949,127 (GRCm39)	*729Q	probably null	Het
Gpr63	G	A	4: 25,008,301 (GRCm39)	V342M	possibly damaging	Het
Guf1	C	T	5: 69,723,810 (GRCm39)	P463L	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Ifngr2	T	C	16: 91,358,535 (GRCm39)	L245P	probably damaging	Het
Igsf10	A	G	3: 59,236,564 (GRCm39)	F1206L	probably damaging	Het
Ktn1	T	A	14: 47,944,744 (GRCm39)		probably null	Het
Lekr1	A	G	3: 65,591,520 (GRCm39)	K86E	possibly damaging	Het
Lrrc3	C	T	10: 77,737,346 (GRCm39)	G30D	possibly damaging	Het
Mapk8ip2	T	C	15: 89,344,897 (GRCm39)	F765L	probably damaging	Het
Myo6	A	G	9: 80,183,632 (GRCm39)	T676A	unknown	Het
Nr4a1	T	C	15: 101,171,053 (GRCm39)	S510P	probably damaging	Het
Or2o1	T	C	11: 49,051,497 (GRCm39)	S219P	probably damaging	Het
Or4c113	T	C	2: 88,885,646 (GRCm39)	I41M	probably benign	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or51e1	C	T	7: 102,359,402 (GRCm39)	T312I	probably benign	Het
Or5a1	A	G	19: 12,097,785 (GRCm39)	L97P	probably damaging	Het
Pdcd1	G	A	1: 93,969,193 (GRCm39)	L42F	probably damaging	Het
Pdzd7	T	C	19: 45,018,490 (GRCm39)	D621G	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pias4	G	A	10: 80,990,342 (GRCm39)	R398C	probably benign	Het
Plekha6	A	T	1: 133,219,893 (GRCm39)		probably null	Het
Prkag3	A	G	1: 74,784,854 (GRCm39)		probably null	Het
Ptpn7	A	G	1: 135,061,606 (GRCm39)	T23A	probably benign	Het
Ptprd	T	C	4: 75,873,526 (GRCm39)	D1069G	probably damaging	Het
Ptprr	A	G	10: 116,087,030 (GRCm39)	Y503C	probably damaging	Het
Slc26a8	T	C	17: 28,866,899 (GRCm39)	D610G	probably benign	Het
Smyd4	A	G	11: 75,292,984 (GRCm39)	N638S	probably benign	Het
Tenm3	A	G	8: 48,740,883 (GRCm39)	F1200S	probably damaging	Het
Tox3	A	G	8: 90,984,595 (GRCm39)	S195P	probably benign	Het
Vars1	T	A	17: 35,229,490 (GRCm39)	M369K	probably damaging	Het
Vmn2r77	C	A	7: 86,450,947 (GRCm39)	Q278K	probably benign	Het
Zfp345	T	C	2: 150,314,740 (GRCm39)	T266A	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
IGL02138:Trim44	APN	2	102,211,253 (GRCm39)	missense	probably benign	0.31
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCCCGATACTCACTCTCAG -3'
(R):5'- ATCGCCAGAAGTTCCTCAGC -3'

Sequencing Primer
(F):5'- GATACTCACTCTCAGTTCTTCGAAGG -3'
(R):5'- TGGCTGCCTACGTCCATG -3'

Posted On

2020-09-02