Mutagenetix > Incidental Mutation

Incidental Mutation 'R0519:Tgm5'

48368

Institutional Source

Beutler Lab

Gene Symbol

Tgm5

Ensembl Gene

ENSMUSG00000053675

Gene Name

transglutaminase 5

Synonyms

TGx, 2310007C07Rik

MMRRC Submission

038712-MU

Accession Numbers

Essential gene?

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

Stock #

R0519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120876592-120916322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120879376 bp (GRCm39)

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]

AlphaFold

Q9D7I9

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: 107,696,067 (GRCm39)	R168G	probably benign	Het
2810004N23Rik	C	T	8: 125,566,668 (GRCm39)	G251R	possibly damaging	Het
3425401B19Rik	A	G	14: 32,384,919 (GRCm39)	S349P	possibly damaging	Het
Ackr4	A	G	9: 103,976,650 (GRCm39)	V99A	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Asxl3	A	G	18: 22,656,577 (GRCm39)	Q1529R	possibly damaging	Het
Atg12	T	C	18: 46,874,477 (GRCm39)	E46G	probably benign	Het
Cdcp2	A	G	4: 106,964,389 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,318,089 (GRCm39)		probably benign	Het
Clip2	A	G	5: 134,545,005 (GRCm39)	V383A	probably benign	Het
Cntln	C	T	4: 84,923,290 (GRCm39)		probably benign	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Csmd2	A	C	4: 128,380,798 (GRCm39)	Y2118S	possibly damaging	Het
Dip2c	T	A	13: 9,613,244 (GRCm39)	V415E	probably damaging	Het
Dpy19l2	C	T	9: 24,469,391 (GRCm39)	R755Q	probably benign	Het
Dsn1	A	T	2: 156,840,633 (GRCm39)		probably benign	Het
Dtd2	T	C	12: 52,051,742 (GRCm39)		probably benign	Het
Dync1i1	A	G	6: 6,027,399 (GRCm39)	T602A	probably benign	Het
Ercc6	A	C	14: 32,248,799 (GRCm39)	D450A	probably damaging	Het
Fgf12	A	T	16: 28,008,380 (GRCm39)	V104D	probably benign	Het
Frem1	A	T	4: 82,888,870 (GRCm39)		probably null	Het
Gcgr	G	T	11: 120,426,982 (GRCm39)	W88L	probably damaging	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Hapln1	A	G	13: 89,732,835 (GRCm39)		probably benign	Het
Hmgn3	T	C	9: 82,994,301 (GRCm39)	E40G	probably damaging	Het
Hsdl1	G	A	8: 120,292,450 (GRCm39)	A255V	probably damaging	Het
Hyls1	T	C	9: 35,472,499 (GRCm39)	K306E	probably damaging	Het
Jcad	C	T	18: 4,649,122 (GRCm39)		probably benign	Het
Kif14	C	A	1: 136,396,885 (GRCm39)	A397E	probably damaging	Het
Lcmt2	A	T	2: 120,969,825 (GRCm39)		probably null	Het
Lifr	T	C	15: 7,207,061 (GRCm39)	L524P	probably damaging	Het
Ly6g6f	T	C	17: 35,301,828 (GRCm39)	K209E	possibly damaging	Het
Macf1	G	A	4: 123,365,113 (GRCm39)	T1651I	probably benign	Het
Mapk4	T	C	18: 74,103,392 (GRCm39)	D39G	probably damaging	Het
Mbl1	A	G	14: 40,880,522 (GRCm39)	M137V	probably damaging	Het
Mcm10	G	A	2: 5,013,356 (GRCm39)	S92L	probably benign	Het
Mug1	A	G	6: 121,828,383 (GRCm39)	K265R	possibly damaging	Het
Mxra7	A	G	11: 116,701,612 (GRCm39)		probably null	Het
Neu3	G	A	7: 99,472,524 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,460,648 (GRCm39)	T2395A	probably benign	Het
Or1j1	T	A	2: 36,702,627 (GRCm39)	H159L	probably damaging	Het
Or5m9	A	T	2: 85,877,411 (GRCm39)	Y195F	probably benign	Het
Or6s1	T	A	14: 51,308,614 (GRCm39)	I79F	probably damaging	Het
Or7g34	A	T	9: 19,478,245 (GRCm39)	I145N	probably benign	Het
Osgepl1	T	C	1: 53,360,255 (GRCm39)	V327A	probably damaging	Het
Pcdhb21	T	C	18: 37,649,085 (GRCm39)	V738A	possibly damaging	Het
Plekha8	A	T	6: 54,599,092 (GRCm39)		probably benign	Het
Ptprq	A	C	10: 107,374,781 (GRCm39)		probably benign	Het
Pus10	T	A	11: 23,661,201 (GRCm39)	F263Y	probably benign	Het
Rad54b	A	T	4: 11,599,809 (GRCm39)	I338F	probably damaging	Het
Rad54l2	A	G	9: 106,585,498 (GRCm39)	F756L	probably damaging	Het
Scn11a	A	G	9: 119,619,185 (GRCm39)	L719P	probably damaging	Het
Slc2a2	G	A	3: 28,772,965 (GRCm39)	V253I	possibly damaging	Het
Slc39a4	A	T	15: 76,499,338 (GRCm39)	N192K	probably benign	Het
Soat1	T	A	1: 156,268,816 (GRCm39)	I245F	probably damaging	Het
Sorcs2	G	A	5: 36,188,534 (GRCm39)	A858V	probably benign	Het
Tcim	T	C	8: 24,928,651 (GRCm39)	T88A	possibly damaging	Het
Tecta	G	A	9: 42,259,188 (GRCm39)		probably benign	Het
Tjp1	A	G	7: 64,952,669 (GRCm39)	V1555A	probably benign	Het
Tmem214	A	C	5: 31,027,012 (GRCm39)	M1L	probably null	Het
Togaram1	T	C	12: 65,012,776 (GRCm39)		probably benign	Het
Topaz1	C	A	9: 122,578,544 (GRCm39)	L485I	possibly damaging	Het
Ttn	T	C	2: 76,548,626 (GRCm39)		probably benign	Het
Ube2o	A	G	11: 116,437,285 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,734,465 (GRCm39)	D246E	probably benign	Het
Vcpkmt	T	C	12: 69,629,102 (GRCm39)	D132G	probably benign	Het
Vmn2r111	T	A	17: 22,792,102 (GRCm39)	Q51H	probably benign	Het
Vmn2r95	C	T	17: 18,659,765 (GRCm39)	P170S	probably damaging	Het
Zbtb38	A	G	9: 96,567,826 (GRCm39)	I1086T	probably damaging	Het
Zfp444	G	A	7: 6,191,172 (GRCm39)	A118T	probably benign	Het
Zp2	A	G	7: 119,737,372 (GRCm39)	I272T	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
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
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

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