Mutagenetix > Incidental Mutations

Incidental Mutation 'R6033:Tgm5'

482105

Institutional Source

Beutler Lab

Gene Symbol

Tgm5

Ensembl Gene

ENSMUSG00000053675

Gene Name

transglutaminase 5

Synonyms

2310007C07Rik, TGx

MMRRC Submission

044205-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R6033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121046111-121085841 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 121070729 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028721 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000028721

SMART Domains

Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.9%
20x: 89.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,178,372	E72G	probably damaging	Het
Adgrl1	T	A	8: 83,918,922	V58E	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alas1	A	G	9: 106,241,204	S240P	probably damaging	Het
Alox12e	C	T	11: 70,316,013	G616D	probably benign	Het
Arhgap8	A	G	15: 84,741,925	E67G	probably damaging	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Ccdc150	G	T	1: 54,285,628		probably null	Het
Cmtm8	T	C	9: 114,796,073	T97A	probably damaging	Het
Cnmd	T	C	14: 79,661,505	S36G	probably benign	Het
Dnah3	A	C	7: 120,071,647	N609K	probably benign	Het
Dph1	C	T	11: 75,191,197		probably benign	Het
Drosha	G	A	15: 12,925,999	A1225T	probably benign	Het
Eid3	T	A	10: 82,867,653	I316K	probably damaging	Het
Erich6	A	G	3: 58,623,201	L449S	probably benign	Het
Fhod1	T	C	8: 105,336,434		probably benign	Het
Glra1	A	G	11: 55,527,419	Y250H	probably damaging	Het
Gm6768	A	G	12: 119,261,740		noncoding transcript	Het
Hivep1	A	G	13: 42,157,107	E941G	probably benign	Het
Homer2	A	C	7: 81,618,679	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799		probably null	Het
Ifna12	T	C	4: 88,602,917	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,658,209	Y79C	probably damaging	Het
Incenp	C	T	19: 9,872,697	V871I	probably damaging	Het
Jaml	G	A	9: 45,088,710	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,194	C110Y	probably damaging	Het
Manba	T	C	3: 135,549,261	V460A	probably benign	Het
Myrfl	A	T	10: 116,849,101	C125S	probably benign	Het
Ncan	T	C	8: 70,112,590	D229G	probably damaging	Het
Nlrp10	A	T	7: 108,924,577	D565E	probably benign	Het
Npas2	T	C	1: 39,338,180	V541A	probably damaging	Het
Nsg2	G	A	11: 32,055,058	V87M	possibly damaging	Het
Olfr1040	A	T	2: 86,146,269	V155E	probably damaging	Het
Prkd2	C	T	7: 16,865,714	R701C	probably damaging	Het
Prss36	T	C	7: 127,934,567	R22G	probably benign	Het
Psmd1	T	C	1: 86,137,095	Y950H	probably damaging	Het
Slc45a4	G	A	15: 73,581,976	A716V	probably damaging	Het
Slc46a1	T	C	11: 78,466,007		probably null	Het
Slc6a5	T	C	7: 49,959,351	I768T	probably benign	Het
Slco6c1	C	T	1: 97,081,316		probably null	Het
Taar2	A	T	10: 23,940,976	H138L	probably benign	Het
Taf2	A	C	15: 55,058,901	L330R	probably damaging	Het
Tmed4	A	T	11: 6,274,491	Y56*	probably null	Het
Tmem156	A	T	5: 65,075,621	F135L	probably benign	Het
Ttll6	T	C	11: 96,134,887	S65P	probably damaging	Het
Ttn	C	T	2: 76,726,827	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,470,224		probably null	Het
Unc80	A	T	1: 66,473,260	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,737,929	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,368,599	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,464,401	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,329,137	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,626,726	S481P	probably benign	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
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
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

Posted On

2017-06-27