Mutagenetix > Incidental Mutation

Incidental Mutation 'R2409:Trim26'

248146

Institutional Source

Beutler Lab

Gene Symbol

Trim26

Ensembl Gene

ENSMUSG00000024457

Gene Name

tripartite motif-containing 26

Synonyms

Zfp173

MMRRC Submission

040375-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R2409 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37148026-37170290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37161895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 105 (H105N)

Ref Sequence

ENSEMBL: ENSMUSP00000136651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053434] [ENSMUST00000123715] [ENSMUST00000124136] [ENSMUST00000130367] [ENSMUST00000130801] [ENSMUST00000144182] [ENSMUST00000179968]

AlphaFold

Q99PN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000053434
AA Change: H105N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060103
Gene: ENSMUSG00000024457
AA Change: H105N

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
SPRY	371	545	3.03e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123715
AA Change: H105N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118438
Gene: ENSMUSG00000024457
AA Change: H105N

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124136

SMART Domains

Protein: ENSMUSP00000120764
Gene: ENSMUSG00000024457

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
PRY	121	173	6.18e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000130367
AA Change: H105N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114896
Gene: ENSMUSG00000024457
AA Change: H105N

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
SPRY	371	545	3.03e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000130801
AA Change: H105N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118388
Gene: ENSMUSG00000024457
AA Change: H105N

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134325

Predicted Effect

probably damaging
Transcript: ENSMUST00000144182
AA Change: H105N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114565
Gene: ENSMUSG00000024457
AA Change: H105N

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
low complexity region	379	394	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179968
AA Change: H105N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136651
Gene: ENSMUSG00000024457
AA Change: H105N

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
SPRY	371	545	3.03e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156872

Meta Mutation Damage Score

0.8887

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.0%

Validation Efficiency

100% (32/32)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,788,747 (GRCm39)	T1042I	probably benign	Het
Adamts13	A	G	2: 26,868,374 (GRCm39)	T162A	probably benign	Het
Adamts7	T	A	9: 90,062,740 (GRCm39)	I398N	probably damaging	Het
Cib2	A	G	9: 54,452,751 (GRCm39)		probably null	Het
Cyp3a16	T	C	5: 145,377,177 (GRCm39)	K470R	probably benign	Het
Dpy19l2	A	G	9: 24,569,924 (GRCm39)	M343T	probably benign	Het
Dyrk2	A	G	10: 118,696,532 (GRCm39)	V242A	probably benign	Het
Extl3	T	C	14: 65,315,017 (GRCm39)	D55G	probably benign	Het
Fabp7	A	G	10: 57,661,772 (GRCm39)	K82E	possibly damaging	Het
Fat1	G	T	8: 45,493,567 (GRCm39)		probably benign	Het
Gen1	A	G	12: 11,299,165 (GRCm39)	I280T	possibly damaging	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Gucy1b2	CCGTGTTT	C	14: 62,643,628 (GRCm39)		probably null	Het
Il3ra	G	A	14: 14,349,377 (GRCm38)		probably null	Het
Myo1f	A	G	17: 33,795,641 (GRCm39)	N66D	probably damaging	Het
Nfkb1	C	T	3: 135,319,704 (GRCm39)	E264K	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or7d10	G	T	9: 19,832,072 (GRCm39)	R189L	probably benign	Het
Or7d10	G	C	9: 19,832,077 (GRCm39)	D191H	probably damaging	Het
Prdm10	A	G	9: 31,260,418 (GRCm39)	H624R	possibly damaging	Het
Rgs5	G	T	1: 169,504,451 (GRCm39)	V34F	possibly damaging	Het
Sec14l4	T	C	11: 3,990,048 (GRCm39)	S116P	probably benign	Het
Septin1	T	C	7: 126,815,143 (GRCm39)		probably null	Het
Septin9	T	A	11: 117,251,287 (GRCm39)	I535N	probably damaging	Het
Sh2b1	C	T	7: 126,070,651 (GRCm39)	G350D	probably damaging	Het
Slc6a21	T	C	7: 44,929,750 (GRCm39)	V107A	probably benign	Het
Trim71	A	T	9: 114,342,781 (GRCm39)	D500E	possibly damaging	Het
Vmn2r78	T	A	7: 86,569,953 (GRCm39)		probably benign	Het
Vmn2r84	A	G	10: 130,227,940 (GRCm39)	S99P	probably damaging	Het

Other mutations in Trim26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02622:Trim26	APN	17	37,161,797 (GRCm39)	missense	probably damaging	1.00
R0047:Trim26	UTSW	17	37,168,756 (GRCm39)	unclassified	probably benign
R0483:Trim26	UTSW	17	37,163,598 (GRCm39)	splice site	probably benign
R0732:Trim26	UTSW	17	37,163,510 (GRCm39)	missense	possibly damaging	0.54
R2384:Trim26	UTSW	17	37,161,781 (GRCm39)	missense	probably damaging	1.00
R4864:Trim26	UTSW	17	37,168,886 (GRCm39)	unclassified	probably benign
R5121:Trim26	UTSW	17	37,161,958 (GRCm39)	nonsense	probably null
R5463:Trim26	UTSW	17	37,162,016 (GRCm39)	missense	probably damaging	1.00
R6259:Trim26	UTSW	17	37,167,110 (GRCm39)	missense	probably benign	0.07
R7863:Trim26	UTSW	17	37,161,664 (GRCm39)	missense	probably damaging	1.00
R8090:Trim26	UTSW	17	37,167,640 (GRCm39)	missense	possibly damaging	0.60
R8344:Trim26	UTSW	17	37,168,602 (GRCm39)	missense	unknown
R8405:Trim26	UTSW	17	37,167,095 (GRCm39)	missense	possibly damaging	0.48
R9713:Trim26	UTSW	17	37,168,307 (GRCm39)	missense	probably damaging	1.00
Z1177:Trim26	UTSW	17	37,168,464 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCACAAGTGATATCCGC -3'
(R):5'- GAGATGAGTGTCCTGAGCTG -3'

Sequencing Primer
(F):5'- AGTGATATCCGCCCCATATCGG -3'
(R):5'- TGTCCTGAGCTGGGGCAG -3'

Posted On

2014-11-11