Mutagenetix > Incidental Mutation

Incidental Mutation 'R9470:Trim44'

715404

Institutional Source

Beutler Lab

Gene Symbol

Trim44

Ensembl Gene

ENSMUSG00000027189

Gene Name

tripartite motif-containing 44

Synonyms

DIPB, Mc7

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9470 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102130464-102231541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102230651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 127 (S127G)

Ref Sequence

ENSEMBL: ENSMUSP00000099633 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000102573
AA Change: S127G

SMART Domains

Protein: ENSMUSP00000099633
Gene: ENSMUSG00000027189
AA Change: S127G

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

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	A	4: 129,903,074 (GRCm39)	L558Q	probably damaging	Het
Apob	A	G	12: 8,039,219 (GRCm39)	D483G	possibly damaging	Het
Arid1a	T	C	4: 133,413,057 (GRCm39)	D994G	unknown	Het
Barx2	A	T	9: 31,770,044 (GRCm39)	Y161*	probably null	Het
Bmp7	G	T	2: 172,711,960 (GRCm39)	N421K	probably damaging	Het
Bod1l	A	T	5: 41,974,439 (GRCm39)	C2292S	probably damaging	Het
Ces1c	C	T	8: 93,830,746 (GRCm39)		probably null	Het
Clca3b	T	C	3: 144,543,456 (GRCm39)	T458A	probably damaging	Het
Cntnap5a	T	G	1: 116,374,344 (GRCm39)	V952G	probably damaging	Het
Cyp2c54	T	C	19: 40,060,888 (GRCm39)	E85G	probably damaging	Het
Dmxl1	A	G	18: 50,026,777 (GRCm39)	K1962E	possibly damaging	Het
Dnajc13	A	G	9: 104,107,919 (GRCm39)	V254A	probably benign	Het
Dysf	A	T	6: 84,090,352 (GRCm39)	I955F	possibly damaging	Het
Fam184b	A	G	5: 45,741,854 (GRCm39)	S126P	probably damaging	Het
Gapvd1	A	T	2: 34,602,280 (GRCm39)	D622E	possibly damaging	Het
Ggta1	T	C	2: 35,292,767 (GRCm39)	Y180C	probably damaging	Het
Gpr31b	A	G	17: 13,270,845 (GRCm39)	V108A	probably damaging	Het
Kcnu1	A	G	8: 26,409,660 (GRCm39)	Y861C	probably benign	Het
Mov10l1	T	C	15: 88,904,518 (GRCm39)	L799P	probably damaging	Het
Nkx1-1	G	A	5: 33,591,275 (GRCm39)	P16S	unknown	Het
Nos1	T	C	5: 118,064,560 (GRCm39)	L997P	probably damaging	Het
Noxred1	A	G	12: 87,269,829 (GRCm39)	Y301H	possibly damaging	Het
Nup50l	T	C	6: 96,142,474 (GRCm39)	H190R	possibly damaging	Het
Or11g1	T	C	14: 50,651,235 (GRCm39)	V78A	possibly damaging	Het
Or52j3	G	A	7: 102,836,270 (GRCm39)	R154H	probably benign	Het
Or5ak4	A	T	2: 85,161,673 (GRCm39)	S190T	probably damaging	Het
Or5b113	A	G	19: 13,342,115 (GRCm39)	N41S	probably damaging	Het
Or6b6	A	T	7: 106,571,461 (GRCm39)	I30N	probably benign	Het
Paqr7	T	C	4: 134,234,914 (GRCm39)	V257A	probably benign	Het
Parp8	A	T	13: 117,031,292 (GRCm39)	S473R	probably benign	Het
Pcdhb14	A	T	18: 37,581,076 (GRCm39)	T61S	probably benign	Het
Pde11a	G	A	2: 75,821,612 (GRCm39)	A889V	probably benign	Het
Potefam3e	T	A	8: 19,797,809 (GRCm39)	S292T	probably benign	Het
Scart2	A	G	7: 139,827,345 (GRCm39)	T18A	probably benign	Het
Sertad1	T	C	7: 27,188,871 (GRCm39)	L64P	probably damaging	Het
Tmem156	C	T	5: 65,237,531 (GRCm39)	R43K	probably damaging	Het
Tmem82	T	A	4: 141,342,341 (GRCm39)	D287V	probably damaging	Het
Traf1	A	G	2: 34,833,974 (GRCm39)	F381L	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubap2	G	A	4: 41,195,434 (GRCm39)	A1068V	possibly damaging	Het
Vmn1r47	T	G	6: 89,999,777 (GRCm39)	M303R	probably null	Het
Zc3h12d	T	C	10: 7,743,321 (GRCm39)	S364P	possibly damaging	Het
Zdbf2	T	A	1: 63,344,784 (GRCm39)	N1054K	possibly damaging	Het
Zpbp	A	T	11: 11,358,541 (GRCm39)	I242N	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
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
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'- ATAGGTGCTCAAATCCAGCCC -3'
(R):5'- CATCGCCAGAAGTTCCTCAG -3'

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

Posted On

2022-06-15