Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01061:Tgm5'

50377

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgm5

Ensembl Gene

ENSMUSG00000053675

Gene Name

transglutaminase 5

Synonyms

2310007C07Rik, TGx

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

121046111-121085841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121071496 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 231 (C231S)

Ref Sequence

ENSEMBL: ENSMUSP00000028721 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028721
AA Change: C231S

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

SMART Domains

Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
AA Change: C231S

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Ankfy1	T	A	11: 72,728,860	C186*	probably null	Het
Ankmy1	A	T	1: 92,870,974		probably benign	Het
B3gnt2	T	A	11: 22,836,042	E382V	probably damaging	Het
Carmil3	T	G	14: 55,498,630	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,447,625		probably benign	Het
Chek1	G	A	9: 36,714,519	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,266,516	I92L	probably benign	Het
Ddx56	C	T	11: 6,264,671		probably null	Het
Dicer1	A	T	12: 104,706,327	M887K	probably null	Het
Dnajc18	A	G	18: 35,680,942		probably benign	Het
Dock2	A	G	11: 34,705,826	V401A	probably damaging	Het
Dock4	A	C	12: 40,702,969	N434T	probably benign	Het
Ehbp1l1	A	T	19: 5,717,888	M1129K	probably benign	Het
Fam83a	A	T	15: 57,986,375	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 31,083,042	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,168,354	F414L	possibly damaging	Het
Kdelc2	A	G	9: 53,388,587		probably benign	Het
Kndc1	A	T	7: 139,922,694	E965D	probably benign	Het
Lrrc66	T	C	5: 73,615,499	K209E	probably benign	Het
Mcm3	A	T	1: 20,814,496	I261N	possibly damaging	Het
Mier3	T	A	13: 111,714,436		probably benign	Het
Muc6	T	C	7: 141,648,454	E669G	probably damaging	Het
Myh1	T	A	11: 67,217,862	M1368K	probably benign	Het
Nav1	A	G	1: 135,450,630	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,375,134	L363F	probably damaging	Het
Olfr113	A	G	17: 37,574,904	I173T	possibly damaging	Het
Olfr1502	T	C	19: 13,862,705	V304A	possibly damaging	Het
Olfr690	A	G	7: 105,329,382	I270T	possibly damaging	Het
Pkd1l3	A	G	8: 109,638,706	H1153R	probably damaging	Het
Ppp6r2	A	T	15: 89,286,015		probably benign	Het
Prelid3b	T	C	2: 174,465,821		probably null	Het
Prrt3	T	C	6: 113,497,770	K164E	possibly damaging	Het
Rab22a	T	A	2: 173,688,210	D60E	probably damaging	Het
Rab32	A	G	10: 10,557,874	L72P	probably damaging	Het
Samm50	A	G	15: 84,202,254	T225A	probably benign	Het
Snx27	T	A	3: 94,528,980		probably benign	Het
Taf7	G	A	18: 37,643,433	T27M	probably damaging	Het
Tll1	A	G	8: 64,038,454		probably null	Het
Tmem150a	A	G	6: 72,357,118	D61G	probably damaging	Het
Ttll8	G	A	15: 88,917,250	R412C	possibly damaging	Het
Ubr3	T	A	2: 69,983,225	D1293E	probably benign	Het
Utp20	T	C	10: 88,770,704	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,488,184	W355R	probably damaging	Het
Wdr60	C	A	12: 116,229,704	A543S	probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het
Zfhx2	T	A	14: 55,073,882	N452Y	possibly damaging	Het
Zfp180	T	G	7: 24,104,745	D196E	possibly damaging	Het

Other mutations in Tgm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01148:Tgm5	APN	2	121046675	splice site	probably null
IGL01284:Tgm5	APN	2	121052547	missense	possibly damaging	0.94
IGL01370:Tgm5	APN	2	121053537	missense	probably benign	0.03
IGL01545:Tgm5	APN	2	121052808	missense	probably damaging	1.00
IGL01547:Tgm5	APN	2	121049202	splice site	probably benign
IGL01998:Tgm5	APN	2	121052439	missense	probably damaging	1.00
IGL02577:Tgm5	APN	2	121077603	missense	probably benign	0.01
IGL02636:Tgm5	APN	2	121076796	missense	probably damaging	0.99
PIT4283001:Tgm5	UTSW	2	121071585	missense	possibly damaging	0.48
R0001:Tgm5	UTSW	2	121077646	missense	probably damaging	1.00
R0013:Tgm5	UTSW	2	121076882	missense	probably damaging	1.00
R0105:Tgm5	UTSW	2	121077012	missense	probably damaging	1.00
R0105:Tgm5	UTSW	2	121077012	missense	probably damaging	1.00
R0117:Tgm5	UTSW	2	121075102	critical splice donor site	probably null
R0145:Tgm5	UTSW	2	121077581	missense	possibly damaging	0.93
R0356:Tgm5	UTSW	2	121053574	missense	probably damaging	1.00
R0410:Tgm5	UTSW	2	121077558	missense	possibly damaging	0.46
R0519:Tgm5	UTSW	2	121048895	missense	probably damaging	1.00
R1674:Tgm5	UTSW	2	121071544	missense	possibly damaging	0.60
R1773:Tgm5	UTSW	2	121077650	missense	possibly damaging	0.67
R1864:Tgm5	UTSW	2	121075218	missense	probably damaging	1.00
R2276:Tgm5	UTSW	2	121048823	splice site	probably benign
R2511:Tgm5	UTSW	2	121076948	missense	possibly damaging	0.62
R4180:Tgm5	UTSW	2	121076961	missense	probably benign	0.13
R4230:Tgm5	UTSW	2	121070735	missense	probably damaging	1.00
R4801:Tgm5	UTSW	2	121052472	missense	probably damaging	1.00
R4802:Tgm5	UTSW	2	121052472	missense	probably damaging	1.00
R5840:Tgm5	UTSW	2	121085660	critical splice donor site	probably null
R6033:Tgm5	UTSW	2	121070729	splice site	probably null
R6033:Tgm5	UTSW	2	121070729	splice site	probably null
R7064:Tgm5	UTSW	2	121053514	missense	probably benign	0.04
R7102:Tgm5	UTSW	2	121046498	missense	possibly damaging	0.89
R7114:Tgm5	UTSW	2	121048496	nonsense	probably null
R7178:Tgm5	UTSW	2	121085768	start gained	probably benign
R7748:Tgm5	UTSW	2	121052808	missense	probably damaging	1.00
R7969:Tgm5	UTSW	2	121075169	missense	probably damaging	1.00
R8428:Tgm5	UTSW	2	121048875	missense	probably benign
RF022:Tgm5	UTSW	2	121071611	missense	probably damaging	1.00
V3553:Tgm5	UTSW	2	121071502	missense	probably damaging	1.00
X0065:Tgm5	UTSW	2	121070839	missense	probably damaging	1.00
Z1177:Tgm5	UTSW	2	121052451	missense	probably damaging	1.00

Posted On

2013-06-21