Mutagenetix > Incidental Mutations

Incidental Mutation 'R0519:Tgm5'

48368

Institutional Source

Beutler Lab

Gene Symbol

Tgm5

Ensembl Gene

ENSMUSG00000053675

Gene Name

transglutaminase 5

Synonyms

2310007C07Rik, TGx

MMRRC Submission

038712-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R0519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121046111-121085841 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121048895 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 553 (L553F)

Ref Sequence

ENSEMBL: ENSMUSP00000028721 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028721
AA Change: L553F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
AA Change: L553F

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.6%
20x: 93.2%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,548,201	R168G	probably benign	Het
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
2810004N23Rik	C	T	8: 124,839,929	G251R	possibly damaging	Het
3425401B19Rik	A	G	14: 32,662,962	S349P	possibly damaging	Het
Ackr4	A	G	9: 104,099,451	V99A	probably benign	Het
Asxl3	A	G	18: 22,523,520	Q1529R	possibly damaging	Het
Atg12	T	C	18: 46,741,410	E46G	probably benign	Het
Cdcp2	A	G	4: 107,107,192		probably benign	Het
Clasrp	A	G	7: 19,584,164		probably benign	Het
Clip2	A	G	5: 134,516,151	V383A	probably benign	Het
Cntln	C	T	4: 85,005,053		probably benign	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Csmd2	A	C	4: 128,487,005	Y2118S	possibly damaging	Het
Dip2c	T	A	13: 9,563,208	V415E	probably damaging	Het
Dpy19l2	C	T	9: 24,558,095	R755Q	probably benign	Het
Dsn1	A	T	2: 156,998,713		probably benign	Het
Dtd2	T	C	12: 52,004,959		probably benign	Het
Dync1i1	A	G	6: 6,027,399	T602A	probably benign	Het
Ercc6	A	C	14: 32,526,842	D450A	probably damaging	Het
Fgf12	A	T	16: 28,189,628	V104D	probably benign	Het
Frem1	A	T	4: 82,970,633		probably null	Het
Gcgr	G	T	11: 120,536,156	W88L	probably damaging	Het
Glb1	ACCC	ACC	9: 114,421,744		probably null	Het
Hapln1	A	G	13: 89,584,716		probably benign	Het
Hmgn3	T	C	9: 83,112,248	E40G	probably damaging	Het
Hsdl1	G	A	8: 119,565,711	A255V	probably damaging	Het
Hyls1	T	C	9: 35,561,203	K306E	probably damaging	Het
Jcad	C	T	18: 4,649,122		probably benign	Het
Kif14	C	A	1: 136,469,147	A397E	probably damaging	Het
Lcmt2	A	T	2: 121,139,344		probably null	Het
Lifr	T	C	15: 7,177,580	L524P	probably damaging	Het
Ly6g6f	T	C	17: 35,082,852	K209E	possibly damaging	Het
Macf1	G	A	4: 123,471,320	T1651I	probably benign	Het
Mapk4	T	C	18: 73,970,321	D39G	probably damaging	Het
Mbl1	A	G	14: 41,158,565	M137V	probably damaging	Het
Mcm10	G	A	2: 5,008,545	S92L	probably benign	Het
Mug1	A	G	6: 121,851,424	K265R	possibly damaging	Het
Mxra7	A	G	11: 116,810,786		probably null	Het
Neu3	G	A	7: 99,823,317		probably benign	Het
Nsd1	A	G	13: 55,312,835	T2395A	probably benign	Het
Olfr1034	A	T	2: 86,047,067	Y195F	probably benign	Het
Olfr3	T	A	2: 36,812,615	H159L	probably damaging	Het
Olfr750	T	A	14: 51,071,157	I79F	probably damaging	Het
Olfr854	A	T	9: 19,566,949	I145N	probably benign	Het
Osgepl1	T	C	1: 53,321,096	V327A	probably damaging	Het
Pcdhb21	T	C	18: 37,516,032	V738A	possibly damaging	Het
Plekha8	A	T	6: 54,622,107		probably benign	Het
Ptprq	A	C	10: 107,538,920		probably benign	Het
Pus10	T	A	11: 23,711,201	F263Y	probably benign	Het
Rad54b	A	T	4: 11,599,809	I338F	probably damaging	Het
Rad54l2	A	G	9: 106,708,299	F756L	probably damaging	Het
Scn11a	A	G	9: 119,790,119	L719P	probably damaging	Het
Slc2a2	G	A	3: 28,718,816	V253I	possibly damaging	Het
Slc39a4	A	T	15: 76,615,138	N192K	probably benign	Het
Soat1	T	A	1: 156,441,246	I245F	probably damaging	Het
Sorcs2	G	A	5: 36,031,190	A858V	probably benign	Het
Tcim	T	C	8: 24,438,635	T88A	possibly damaging	Het
Tecta	G	A	9: 42,347,892		probably benign	Het
Tjp1	A	G	7: 65,302,921	V1555A	probably benign	Het
Tmem214	A	C	5: 30,869,668	M1L	probably null	Het
Togaram1	T	C	12: 64,966,002		probably benign	Het
Topaz1	C	A	9: 122,749,479	L485I	possibly damaging	Het
Ttn	T	C	2: 76,718,282		probably benign	Het
Ube2o	A	G	11: 116,546,459		probably null	Het
Ubr7	T	A	12: 102,768,206	D246E	probably benign	Het
Vcpkmt	T	C	12: 69,582,328	D132G	probably benign	Het
Vmn2r111	T	A	17: 22,573,121	Q51H	probably benign	Het
Vmn2r95	C	T	17: 18,439,503	P170S	probably damaging	Het
Zbtb38	A	G	9: 96,685,773	I1086T	probably damaging	Het
Zfp444	G	A	7: 6,188,173	A118T	probably benign	Het
Zp2	A	G	7: 120,138,149	I272T	probably damaging	Het

Other mutations in Tgm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Tgm5	APN	2	121071496	missense	probably benign	0.01
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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCAGTCATTCTGAGGTCCTAGAC -3'
(R):5'- GAGAGGTGTTCCTAAAGGCTCTGC -3'

Sequencing Primer
(F):5'- GTCATTCTGAGGTCCTAGACAAACTC -3'
(R):5'- GCTACAGGCTACAAGGTCTC -3'

Posted On

2013-06-12