Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01547:Tgm5'

90375

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgm5

Ensembl Gene

ENSMUSG00000053675

Gene Name

transglutaminase 5

Synonyms

TGx, 2310007C07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

IGL01547

Quality Score

Status

Chromosome

Chromosomal Location

120876592-120916322 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 120879683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028721]

AlphaFold

Q9D7I9

Predicted Effect

probably benign
Transcript: ENSMUST00000028721

SMART Domains

Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	11	127	1.4e-31	PFAM
TGc	275	368	1.86e-49	SMART
Pfam:Transglut_C	511	610	2.5e-23	PFAM
Pfam:Transglut_C	624	722	1.8e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119778

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 transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null allele display normal skin barrier function and no signs of skin peeling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,182,573 (GRCm39)	G243R	possibly damaging	Het
Afg3l1	T	C	8: 124,228,090 (GRCm39)	V625A	probably benign	Het
Arhgap39	T	C	15: 76,622,015 (GRCm39)		probably benign	Het
Bag1	A	G	4: 40,936,661 (GRCm39)	C332R	probably damaging	Het
Bcas2	T	C	3: 103,079,315 (GRCm39)	Y49H	probably damaging	Het
Cacna1b	C	A	2: 24,522,047 (GRCm39)		probably benign	Het
Cdyl	A	G	13: 35,974,145 (GRCm39)	D53G	possibly damaging	Het
Csmd3	T	C	15: 47,747,013 (GRCm39)	I1322V	probably benign	Het
Evc2	C	A	5: 37,550,431 (GRCm39)	A815E	probably benign	Het
Gm6309	C	T	5: 146,105,221 (GRCm39)	D231N	probably benign	Het
Mtfr2	C	T	10: 20,233,345 (GRCm39)	P305S	probably damaging	Het
Or14c44	A	G	7: 86,062,079 (GRCm39)	N170D	possibly damaging	Het
Or51k1	A	T	7: 103,661,867 (GRCm39)	I14N	probably benign	Het
Or7d10	A	T	9: 19,832,197 (GRCm39)	I231F	probably benign	Het
Pcdhb1	A	G	18: 37,400,395 (GRCm39)	H782R	probably benign	Het
Polr2a	A	G	11: 69,635,768 (GRCm39)	S480P	probably damaging	Het
Scaf11	T	C	15: 96,316,310 (GRCm39)	T1085A	probably benign	Het
Sema6c	C	T	3: 95,079,709 (GRCm39)	R668C	probably damaging	Het
Tas2r123	C	T	6: 132,824,421 (GRCm39)	T106I	probably damaging	Het
Vmn2r23	T	A	6: 123,681,383 (GRCm39)	I97N	possibly damaging	Het
Vmn2r6	T	A	3: 64,445,525 (GRCm39)	K644N	probably damaging	Het
Zfp608	A	G	18: 55,027,521 (GRCm39)		probably null	Het

Other mutations in Tgm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Tgm5	APN	2	120,901,977 (GRCm39)	missense	probably benign	0.01
IGL01148:Tgm5	APN	2	120,877,156 (GRCm39)	splice site	probably null
IGL01284:Tgm5	APN	2	120,883,028 (GRCm39)	missense	possibly damaging	0.94
IGL01370:Tgm5	APN	2	120,884,018 (GRCm39)	missense	probably benign	0.03
IGL01545:Tgm5	APN	2	120,883,289 (GRCm39)	missense	probably damaging	1.00
IGL01998:Tgm5	APN	2	120,882,920 (GRCm39)	missense	probably damaging	1.00
IGL02577:Tgm5	APN	2	120,908,084 (GRCm39)	missense	probably benign	0.01
IGL02636:Tgm5	APN	2	120,907,277 (GRCm39)	missense	probably damaging	0.99
PIT4283001:Tgm5	UTSW	2	120,902,066 (GRCm39)	missense	possibly damaging	0.48
R0001:Tgm5	UTSW	2	120,908,127 (GRCm39)	missense	probably damaging	1.00
R0013:Tgm5	UTSW	2	120,907,363 (GRCm39)	missense	probably damaging	1.00
R0105:Tgm5	UTSW	2	120,907,493 (GRCm39)	missense	probably damaging	1.00
R0105:Tgm5	UTSW	2	120,907,493 (GRCm39)	missense	probably damaging	1.00
R0117:Tgm5	UTSW	2	120,905,583 (GRCm39)	critical splice donor site	probably null
R0145:Tgm5	UTSW	2	120,908,062 (GRCm39)	missense	possibly damaging	0.93
R0356:Tgm5	UTSW	2	120,884,055 (GRCm39)	missense	probably damaging	1.00
R0410:Tgm5	UTSW	2	120,908,039 (GRCm39)	missense	possibly damaging	0.46
R0519:Tgm5	UTSW	2	120,879,376 (GRCm39)	missense	probably damaging	1.00
R1674:Tgm5	UTSW	2	120,902,025 (GRCm39)	missense	possibly damaging	0.60
R1773:Tgm5	UTSW	2	120,908,131 (GRCm39)	missense	possibly damaging	0.67
R1864:Tgm5	UTSW	2	120,905,699 (GRCm39)	missense	probably damaging	1.00
R2276:Tgm5	UTSW	2	120,879,304 (GRCm39)	splice site	probably benign
R2511:Tgm5	UTSW	2	120,907,429 (GRCm39)	missense	possibly damaging	0.62
R4180:Tgm5	UTSW	2	120,907,442 (GRCm39)	missense	probably benign	0.13
R4230:Tgm5	UTSW	2	120,901,216 (GRCm39)	missense	probably damaging	1.00
R4801:Tgm5	UTSW	2	120,882,953 (GRCm39)	missense	probably damaging	1.00
R4802:Tgm5	UTSW	2	120,882,953 (GRCm39)	missense	probably damaging	1.00
R5840:Tgm5	UTSW	2	120,916,141 (GRCm39)	critical splice donor site	probably null
R6033:Tgm5	UTSW	2	120,901,210 (GRCm39)	splice site	probably null
R6033:Tgm5	UTSW	2	120,901,210 (GRCm39)	splice site	probably null
R7064:Tgm5	UTSW	2	120,883,995 (GRCm39)	missense	probably benign	0.04
R7102:Tgm5	UTSW	2	120,876,979 (GRCm39)	missense	possibly damaging	0.89
R7114:Tgm5	UTSW	2	120,878,977 (GRCm39)	nonsense	probably null
R7178:Tgm5	UTSW	2	120,916,249 (GRCm39)	start gained	probably benign
R7748:Tgm5	UTSW	2	120,883,289 (GRCm39)	missense	probably damaging	1.00
R7969:Tgm5	UTSW	2	120,905,650 (GRCm39)	missense	probably damaging	1.00
R8428:Tgm5	UTSW	2	120,879,356 (GRCm39)	missense	probably benign
R9010:Tgm5	UTSW	2	120,879,371 (GRCm39)	missense	possibly damaging	0.94
R9129:Tgm5	UTSW	2	120,877,270 (GRCm39)	missense	probably damaging	0.99
R9465:Tgm5	UTSW	2	120,905,633 (GRCm39)	missense	probably damaging	1.00
RF022:Tgm5	UTSW	2	120,902,092 (GRCm39)	missense	probably damaging	1.00
V3553:Tgm5	UTSW	2	120,901,983 (GRCm39)	missense	probably damaging	1.00
X0065:Tgm5	UTSW	2	120,901,320 (GRCm39)	missense	probably damaging	1.00
Z1177:Tgm5	UTSW	2	120,882,932 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03