Mutagenetix > Incidental Mutation

Incidental Mutation 'R8297:Tgm6'

639000

Institutional Source

Beutler Lab

Gene Symbol

Tgm6

Ensembl Gene

ENSMUSG00000027403

Gene Name

transglutaminase 6

Synonyms

TGM3L

MMRRC Submission

067853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8297 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129954336-129996152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129979358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 163 (V163I)

Ref Sequence

ENSEMBL: ENSMUSP00000028888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028888]

AlphaFold

Q8BM11

Predicted Effect

probably benign
Transcript: ENSMUST00000028888
AA Change: V163I

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

SMART Domains

Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403
AA Change: V163I

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	5	119	3e-31	PFAM
TGc	266	359	3.48e-40	SMART
low complexity region	466	483	N/A	INTRINSIC
Pfam:Transglut_C	495	600	2.4e-23	PFAM
Pfam:Transglut_C	607	704	4.7e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,578 (GRCm39)	L73P	probably damaging	Het
4933412E24Rik	T	G	15: 59,887,524 (GRCm39)	R305S	probably damaging	Het
Adamts19	T	A	18: 58,970,920 (GRCm39)	V168E	probably damaging	Het
Ankrd34b	T	A	13: 92,576,097 (GRCm39)	L443Q	probably damaging	Het
Ano3	A	G	2: 110,491,616 (GRCm39)	Y887H	probably damaging	Het
Arhgef2	A	T	3: 88,546,739 (GRCm39)	H553L	probably benign	Het
Atxn1	G	T	13: 45,720,505 (GRCm39)	N463K	probably benign	Het
Birc6	A	G	17: 74,932,099 (GRCm39)		probably null	Het
C4bp	A	G	1: 130,564,482 (GRCm39)	S401P	probably damaging	Het
Cd5	T	A	19: 10,697,609 (GRCm39)	R457W	probably damaging	Het
Chek2	T	G	5: 110,996,302 (GRCm39)	Y127D	probably damaging	Het
Clec4a1	G	A	6: 122,898,960 (GRCm39)	V10M	probably damaging	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Cops2	T	C	2: 125,701,028 (GRCm39)		probably benign	Het
Cyb5d2	A	G	11: 72,679,929 (GRCm39)	F122S	probably damaging	Het
Daam1	T	A	12: 71,998,689 (GRCm39)	L548H	unknown	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dsg1a	A	C	18: 20,465,090 (GRCm39)	N427T	probably benign	Het
Ear14	A	T	14: 51,441,564 (GRCm39)	D140V	probably damaging	Het
Epha4	A	C	1: 77,483,547 (GRCm39)	F154C	probably damaging	Het
Ets2	G	A	16: 95,507,321 (GRCm39)	V12M	probably damaging	Het
Fbxo40	G	A	16: 36,789,670 (GRCm39)	T480I	probably damaging	Het
Fdps	A	T	3: 89,001,048 (GRCm39)	Y322N	probably damaging	Het
Gca	T	C	2: 62,516,700 (GRCm39)	M132T	probably benign	Het
Ifi203	T	G	1: 173,765,496 (GRCm39)	K26T	probably damaging	Het
Itga10	A	G	3: 96,562,116 (GRCm39)	R668G	probably damaging	Het
Itgal	T	C	7: 126,929,638 (GRCm39)	I1185T	unknown	Het
Kcnj13	A	T	1: 87,314,189 (GRCm39)	N344K	probably damaging	Het
Kdm5a	A	T	6: 120,358,516 (GRCm39)	L186F	probably benign	Het
Klhl8	T	C	5: 104,010,954 (GRCm39)	N624D	probably benign	Het
Klrb1	G	T	6: 128,689,222 (GRCm39)	T83K	possibly damaging	Het
Krt77	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	15: 101,768,407 (GRCm39)		probably benign	Het
Ltb	G	T	17: 35,413,655 (GRCm39)	R53L	probably benign	Het
Mterf3	A	G	13: 67,055,222 (GRCm39)	V69A		Het
Mvb12a	A	G	8: 71,997,888 (GRCm39)	K101E	probably damaging	Het
Nbeal2	T	A	9: 110,464,409 (GRCm39)	Q1110L	possibly damaging	Het
Neb	T	A	2: 52,198,775 (GRCm39)	T389S	possibly damaging	Het
Nol4	A	G	18: 23,173,069 (GRCm39)	F11L	probably damaging	Het
Or10p22	T	C	10: 128,826,708 (GRCm39)	L309P	possibly damaging	Het
Or2a54	A	G	6: 43,093,440 (GRCm39)	I255V	probably benign	Het
Or2h15	A	G	17: 38,441,484 (GRCm39)	S200P	probably damaging	Het
Or52e8b	C	T	7: 104,673,885 (GRCm39)	G97R	probably benign	Het
Pde2a	T	A	7: 101,153,880 (GRCm39)	Y487N	possibly damaging	Het
Pde4a	C	T	9: 21,077,404 (GRCm39)	P61S	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Prr5l	A	G	2: 101,571,630 (GRCm39)		probably null	Het
Ptpn6	G	A	6: 124,705,614 (GRCm39)	T179I	possibly damaging	Het
Ralyl	T	C	3: 14,104,836 (GRCm39)	S34P	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Robo2	A	T	16: 73,812,814 (GRCm39)	C293*	probably null	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Slc22a22	A	T	15: 57,122,506 (GRCm39)	V157E	probably damaging	Het
Sytl2	A	G	7: 90,034,283 (GRCm39)	T498A	probably benign	Het
Tnpo3	A	T	6: 29,582,302 (GRCm39)	C187S	possibly damaging	Het
Ttn	A	G	2: 76,616,485 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,336,905 (GRCm39)	A210T	possibly damaging	Het
Vangl2	C	A	1: 171,837,513 (GRCm39)	V99F	possibly damaging	Het
Vmn1r167	C	T	7: 23,204,215 (GRCm39)	C267Y	probably damaging	Het
Vsig10l	T	C	7: 43,113,531 (GRCm39)	V161A	possibly damaging	Het
Xrcc5	G	A	1: 72,364,244 (GRCm39)	R232Q	possibly damaging	Het
Xrcc6	C	G	15: 81,913,463 (GRCm39)	F365L	probably damaging	Het
Zdhhc13	A	G	7: 48,465,257 (GRCm39)	Y389C	probably damaging	Het

Other mutations in Tgm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Tgm6	APN	2	129,978,415 (GRCm39)	missense	probably benign	0.00
IGL01331:Tgm6	APN	2	129,985,538 (GRCm39)	splice site	probably null
IGL01348:Tgm6	APN	2	129,979,299 (GRCm39)	missense	probably damaging	1.00
IGL01787:Tgm6	APN	2	129,993,354 (GRCm39)	splice site	probably benign
IGL02208:Tgm6	APN	2	129,977,790 (GRCm39)	missense	probably benign	0.11
IGL02656:Tgm6	APN	2	129,987,023 (GRCm39)	missense	probably damaging	1.00
IGL03280:Tgm6	APN	2	129,980,851 (GRCm39)	missense	probably damaging	1.00
R0200:Tgm6	UTSW	2	129,994,865 (GRCm39)	splice site	probably null
R0507:Tgm6	UTSW	2	129,980,751 (GRCm39)	missense	possibly damaging	0.56
R0744:Tgm6	UTSW	2	129,993,681 (GRCm39)	missense	probably benign	0.00
R0800:Tgm6	UTSW	2	129,985,342 (GRCm39)	missense	possibly damaging	0.94
R1530:Tgm6	UTSW	2	129,993,202 (GRCm39)	missense	possibly damaging	0.71
R1573:Tgm6	UTSW	2	129,993,660 (GRCm39)	missense	probably benign	0.00
R1706:Tgm6	UTSW	2	129,987,079 (GRCm39)	missense	possibly damaging	0.53
R2330:Tgm6	UTSW	2	129,985,162 (GRCm39)	missense	probably damaging	1.00
R2881:Tgm6	UTSW	2	129,979,359 (GRCm39)	missense	probably benign	0.04
R2882:Tgm6	UTSW	2	129,979,359 (GRCm39)	missense	probably benign	0.04
R3622:Tgm6	UTSW	2	129,993,681 (GRCm39)	missense	possibly damaging	0.86
R3624:Tgm6	UTSW	2	129,993,681 (GRCm39)	missense	possibly damaging	0.86
R4370:Tgm6	UTSW	2	129,985,525 (GRCm39)	missense	probably benign	0.12
R4664:Tgm6	UTSW	2	129,983,128 (GRCm39)	missense	probably benign	0.34
R4664:Tgm6	UTSW	2	129,979,314 (GRCm39)	missense	probably benign	0.05
R4983:Tgm6	UTSW	2	129,983,113 (GRCm39)	missense	probably damaging	0.99
R5182:Tgm6	UTSW	2	129,983,222 (GRCm39)	missense	probably damaging	0.98
R5397:Tgm6	UTSW	2	129,983,828 (GRCm39)	missense	possibly damaging	0.90
R5411:Tgm6	UTSW	2	129,987,116 (GRCm39)	missense	probably benign	0.01
R5683:Tgm6	UTSW	2	129,980,875 (GRCm39)	missense	probably damaging	1.00
R5933:Tgm6	UTSW	2	129,983,176 (GRCm39)	missense	probably damaging	1.00
R6016:Tgm6	UTSW	2	129,983,148 (GRCm39)	missense	probably damaging	0.99
R7252:Tgm6	UTSW	2	129,986,884 (GRCm39)	missense	probably damaging	1.00
R7290:Tgm6	UTSW	2	129,983,110 (GRCm39)	missense	probably damaging	1.00
R7581:Tgm6	UTSW	2	129,983,205 (GRCm39)	missense	probably damaging	1.00
R8143:Tgm6	UTSW	2	129,983,763 (GRCm39)	missense	probably damaging	0.98
R8153:Tgm6	UTSW	2	129,986,975 (GRCm39)	missense	probably benign	0.00
R8219:Tgm6	UTSW	2	129,993,200 (GRCm39)	missense	probably benign
R8743:Tgm6	UTSW	2	129,985,418 (GRCm39)	missense	probably damaging	0.98
R9312:Tgm6	UTSW	2	129,977,701 (GRCm39)	missense	probably benign
R9346:Tgm6	UTSW	2	129,983,776 (GRCm39)	nonsense	probably null
R9631:Tgm6	UTSW	2	129,977,810 (GRCm39)	missense	probably benign	0.32

Predicted Primers

Posted On

2020-07-28