Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02577:Tgm5'

299237

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 #

IGL02577

Quality Score

Status

Chromosome

Chromosomal Location

120876592-120916322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120908084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 31 (I31V)

Ref Sequence

ENSEMBL: ENSMUSP00000028721 (fasta)

Gene Model

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

AlphaFold

Q9D7I9

Predicted Effect

probably benign
Transcript: ENSMUST00000028721
AA Change: I31V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
AA Change: I31V

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: ENSMUST00000142674

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,667,696 (GRCm39)	I40T	probably benign	Het
Adgrg3	C	T	8: 95,766,555 (GRCm39)	R409C	probably damaging	Het
Cpa5	G	T	6: 30,626,807 (GRCm39)		probably benign	Het
Idi2l	C	A	13: 8,993,288 (GRCm39)	Q68H	probably damaging	Het
Ippk	G	A	13: 49,615,134 (GRCm39)	V506I	possibly damaging	Het
Lcn2	A	G	2: 32,277,101 (GRCm39)	Y158H	probably damaging	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mrgpra4	T	A	7: 47,630,981 (GRCm39)	T207S	probably benign	Het
Or1e30	T	C	11: 73,677,872 (GRCm39)	L36P	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Poln	T	A	5: 34,270,679 (GRCm39)	M451L	probably benign	Het
Rrh	A	C	3: 129,609,372 (GRCm39)	V45G	probably damaging	Het
Smg1	A	T	7: 117,802,345 (GRCm39)	M251K	probably damaging	Het
Tdrd6	T	A	17: 43,937,728 (GRCm39)	I1107F	probably damaging	Het
Vps36	C	T	8: 22,701,632 (GRCm39)	Q240*	probably null	Het
Wdr6	C	T	9: 108,453,140 (GRCm39)	V248I	possibly damaging	Het
Zfp143	A	G	7: 109,691,114 (GRCm39)	E555G	probably damaging	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
IGL01547:Tgm5	APN	2	120,879,683 (GRCm39)	splice site	probably benign
IGL01998:Tgm5	APN	2	120,882,920 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16