Mutagenetix > Incidental Mutation

Incidental Mutation 'R8428:Tgm5'

653572

Institutional Source

Beutler Lab

Gene Symbol

Tgm5

Ensembl Gene

ENSMUSG00000053675

Gene Name

transglutaminase 5

Synonyms

TGx, 2310007C07Rik

MMRRC Submission

067822-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R8428 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120876592-120916322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120879356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 560 (V560A)

Ref Sequence

ENSEMBL: ENSMUSP00000028721 (fasta)

Gene Model

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

AlphaFold

Q9D7I9

Predicted Effect

probably benign
Transcript: ENSMUST00000028721
AA Change: V560A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
AA Change: V560A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,923,175 (GRCm39)	I670V	unknown	Het
Bcan	G	T	3: 87,904,405 (GRCm39)	T117K	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cbx8	C	A	11: 118,929,754 (GRCm39)	V280F	probably damaging	Het
Ccdc117	A	T	11: 5,484,350 (GRCm39)	S163R	possibly damaging	Het
Ccdc17	A	T	4: 116,456,823 (GRCm39)	I509F	probably damaging	Het
Cdon	T	C	9: 35,403,163 (GRCm39)	V1091A	probably benign	Het
Cntnap5b	C	T	1: 100,311,310 (GRCm39)	T972I	probably damaging	Het
Dlg2	T	C	7: 90,740,240 (GRCm39)	L9P	possibly damaging	Het
Dnah6	T	A	6: 73,051,634 (GRCm39)	R3053S	probably benign	Het
Dnah7a	T	A	1: 53,512,112 (GRCm39)	N2983I	probably damaging	Het
Dnah7c	T	C	1: 46,711,536 (GRCm39)	Y2588H	probably damaging	Het
Dpysl5	A	G	5: 30,902,811 (GRCm39)	D81G	probably damaging	Het
Dscaml1	A	G	9: 45,653,884 (GRCm39)	D1387G	probably benign	Het
Exd1	G	T	2: 119,369,348 (GRCm39)	T89K	possibly damaging	Het
Ezh2	T	A	6: 47,522,745 (GRCm39)	R364*	probably null	Het
Fam161b	C	T	12: 84,404,369 (GRCm39)	D104N	probably benign	Het
Fbxw8	C	A	5: 118,215,763 (GRCm39)	V416L	probably benign	Het
Flnc	A	T	6: 29,450,849 (GRCm39)	D1499V	probably benign	Het
Fmc1	A	T	6: 38,516,115 (GRCm39)	R54*	probably null	Het
Fzr1	A	G	10: 81,206,942 (GRCm39)	F61S	probably damaging	Het
Get4	T	G	5: 139,251,393 (GRCm39)	C160G	probably benign	Het
Gm32742	G	A	9: 51,055,675 (GRCm39)	R1330*	probably null	Het
Gnat3	G	A	5: 18,220,312 (GRCm39)	A225T	possibly damaging	Het
Gucy2c	A	G	6: 136,704,892 (GRCm39)	Y541H	probably damaging	Het
Hand2	A	G	8: 57,775,461 (GRCm39)	T174A	probably benign	Het
Helb	T	C	10: 119,927,522 (GRCm39)	T863A	probably damaging	Het
Hoxa7	A	T	6: 52,194,993 (GRCm39)	V2D	unknown	Het
Ifi44	G	A	3: 151,444,978 (GRCm39)	R325*	probably null	Het
Igfn1	C	T	1: 135,895,520 (GRCm39)	G1682E	probably damaging	Het
Itch	A	G	2: 155,010,627 (GRCm39)	N32D	probably benign	Het
Kif26b	T	C	1: 178,744,923 (GRCm39)	V1673A	probably benign	Het
Map1a	A	T	2: 121,135,418 (GRCm39)	D2078V	probably benign	Het
Mgat4b	G	T	11: 50,121,512 (GRCm39)	V35L	probably benign	Het
Micu3	G	A	8: 40,761,205 (GRCm39)	M38I	probably benign	Het
Myo15a	A	T	11: 60,387,241 (GRCm39)	H706L	probably damaging	Het
Ndc1	A	G	4: 107,226,017 (GRCm39)	T42A	probably benign	Het
Nfat5	T	A	8: 108,095,152 (GRCm39)	M1131K	probably damaging	Het
Nop14	G	A	5: 34,798,784 (GRCm39)	S648L	probably damaging	Het
Or51k1	G	T	7: 103,661,632 (GRCm39)	Y92*	probably null	Het
Otogl	A	G	10: 107,634,597 (GRCm39)	V1413A	probably damaging	Het
Palb2	T	A	7: 121,711,224 (GRCm39)	M967L	possibly damaging	Het
Pira12	G	A	7: 3,898,257 (GRCm39)	T355I	probably benign	Het
Ppa2	A	G	3: 133,053,904 (GRCm39)	K198R	probably damaging	Het
Prokr1	T	C	6: 87,565,756 (GRCm39)	T30A	probably benign	Het
Prss50	C	T	9: 110,687,128 (GRCm39)	R24C	unknown	Het
Rbm17	T	C	2: 11,605,441 (GRCm39)	T38A	possibly damaging	Het
Rps6ka5	G	A	12: 100,541,500 (GRCm39)	Q420*	probably null	Het
Senp6	G	T	9: 80,025,794 (GRCm39)	R448L	probably damaging	Het
Senp7	T	C	16: 55,999,391 (GRCm39)	I838T	probably damaging	Het
Sf3b2	C	T	19: 5,337,242 (GRCm39)	S329N	possibly damaging	Het
Slc13a4	A	T	6: 35,245,814 (GRCm39)	D610E	probably benign	Het
Slc24a2	A	G	4: 87,145,337 (GRCm39)	L239P	probably damaging	Het
Slc39a5	T	A	10: 128,232,884 (GRCm39)	H389L	probably damaging	Het
Syt4	A	G	18: 31,577,072 (GRCm39)	L94P	probably damaging	Het
Thoc5	A	G	11: 4,876,115 (GRCm39)	T623A	probably damaging	Het
Tm7sf2	C	T	19: 6,113,074 (GRCm39)	V376I	probably benign	Het
Tmem268	T	A	4: 63,496,141 (GRCm39)	V194E	probably damaging	Het
Tpr	C	A	1: 150,290,564 (GRCm39)	R798S	probably damaging	Het
Trpv5	G	T	6: 41,630,182 (GRCm39)	T685K	possibly damaging	Het
Ttn	A	T	2: 76,584,774 (GRCm39)	N22141K	probably damaging	Het
Txnrd2	T	C	16: 18,275,048 (GRCm39)	I353T	unknown	Het
Upk1a	A	G	7: 30,303,043 (GRCm39)	Y252H	probably damaging	Het
Vmn2r118	A	G	17: 55,915,642 (GRCm39)	I436T	probably benign	Het
Vmn2r76	T	A	7: 85,874,479 (GRCm39)	I833F	possibly damaging	Het
Zfp277	T	C	12: 40,379,577 (GRCm39)	H319R	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
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
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'- ACCAAGCTTTGCTGAAGTAGAAAC -3'
(R):5'- AACCCAGTGATGTCCTCCAG -3'

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

Posted On

2020-10-20