Mutagenetix > Incidental Mutation

Incidental Mutation 'R9312:Tgm6'

705635

Institutional Source

Beutler Lab

Gene Symbol

Tgm6

Ensembl Gene

ENSMUSG00000027403

Gene Name

transglutaminase 6

Synonyms

TGM3L

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129954336-129996152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129977701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 13 (H13Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028888 (fasta)

Gene Model

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

AlphaFold

Q8BM11

Predicted Effect

probably benign
Transcript: ENSMUST00000028888
AA Change: H13Q

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

SMART Domains

Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403
AA Change: H13Q

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: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	A	G	7: 139,565,791 (GRCm39)	L607P	probably damaging	Het
Adamts16	T	A	13: 70,949,045 (GRCm39)	R205S	probably damaging	Het
Adgra3	T	C	5: 50,117,900 (GRCm39)	Y1216C	probably damaging	Het
Arl3	A	G	19: 46,531,964 (GRCm39)	V91A	probably damaging	Het
Bckdhb	A	T	9: 83,870,833 (GRCm39)	K114N	probably benign	Het
Cabin1	A	T	10: 75,561,569 (GRCm39)	D150E	probably benign	Het
Cadps	G	A	14: 12,616,095 (GRCm38)	R312C	probably damaging	Het
Cep120	A	G	18: 53,860,713 (GRCm39)	I239T	probably benign	Het
Clec4g	T	A	8: 3,768,371 (GRCm39)	E120V	probably null	Het
Col18a1	T	C	10: 76,894,606 (GRCm39)	E1022G	probably damaging	Het
Cyfip2	A	G	11: 46,167,709 (GRCm39)	I231T	possibly damaging	Het
Dcaf17	T	C	2: 70,908,458 (GRCm39)	Y228H	probably benign	Het
Ddx41	T	A	13: 55,683,842 (GRCm39)	Q52L	probably benign	Het
Dync2h1	T	C	9: 7,050,413 (GRCm39)	Y3212C	probably damaging	Het
Etv4	A	G	11: 101,664,923 (GRCm39)	Y177H	probably benign	Het
Fer1l5	A	G	1: 36,460,248 (GRCm39)	E1910G	probably damaging	Het
Fgf11	G	T	11: 69,689,412 (GRCm39)	H195Q	probably damaging	Het
Gatb	A	G	3: 85,561,070 (GRCm39)	K529E	probably damaging	Het
Gfus	T	C	15: 75,797,169 (GRCm39)	Y292C	possibly damaging	Het
Gsdmc	C	A	15: 63,649,806 (GRCm39)	A362S	probably damaging	Het
Gucy1b1	A	T	3: 81,942,123 (GRCm39)	N545K	probably damaging	Het
Heatr1	A	G	13: 12,446,565 (GRCm39)	H1638R	probably benign	Het
Hecw1	T	G	13: 14,546,567 (GRCm39)	I145L	probably damaging	Het
Hmmr	A	G	11: 40,614,316 (GRCm39)	V124A	possibly damaging	Het
Il31ra	C	T	13: 112,686,023 (GRCm39)	V89I	probably benign	Het
Kcnmb3	A	T	3: 32,536,575 (GRCm39)	M51K	probably benign	Het
Lamb1	C	T	12: 31,368,352 (GRCm39)	R1209C	probably damaging	Het
Lcn6	G	T	2: 25,570,074 (GRCm39)	G80V	probably benign	Het
Lgsn	A	G	1: 31,243,280 (GRCm39)	E454G	probably benign	Het
Loxhd1	G	A	18: 77,498,285 (GRCm39)	M1624I	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mapk8ip3	T	C	17: 25,146,925 (GRCm39)		probably null	Het
Mlip	A	G	9: 77,147,060 (GRCm39)	Y26H	probably damaging	Het
Nipsnap1	A	C	11: 4,839,902 (GRCm39)	I208L	possibly damaging	Het
Nusap1	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	2: 119,458,119 (GRCm39)		probably benign	Het
Or5m11	T	A	2: 85,781,509 (GRCm39)	V34D	possibly damaging	Het
Pigr	C	T	1: 130,762,185 (GRCm39)	T7M	probably benign	Het
Pigu	T	C	2: 155,199,315 (GRCm39)	M1V	probably null	Het
Pkd1	T	A	17: 24,797,364 (GRCm39)	I2568N	probably damaging	Het
Psmd4	A	T	3: 94,940,729 (GRCm39)	S345T	probably benign	Het
Rab3gap2	A	T	1: 185,015,684 (GRCm39)	M1321L	probably benign	Het
Rnf157	A	G	11: 116,240,158 (GRCm39)		probably null	Het
Sart3	C	T	5: 113,900,935 (GRCm39)	E168K	possibly damaging	Het
Scnn1g	A	G	7: 121,339,818 (GRCm39)	K206E	probably benign	Het
Smg6	A	C	11: 74,820,877 (GRCm39)	S383R	probably benign	Het
Smurf1	G	T	5: 144,830,893 (GRCm39)	P294H	probably damaging	Het
Sspo	A	T	6: 48,445,396 (GRCm39)	H2279L	probably benign	Het
Tacc2	A	T	7: 130,223,978 (GRCm39)	D221V	probably benign	Het
Tnfaip8l2	T	C	3: 95,047,767 (GRCm39)	D32G	probably damaging	Het
Tppp	A	G	13: 74,179,377 (GRCm39)	D167G	probably damaging	Het
Trak1	A	G	9: 121,280,757 (GRCm39)	E382G	probably benign	Het
Trdv2-1	C	T	14: 54,183,570 (GRCm39)	T14I	probably benign	Het
Ubr3	A	T	2: 69,784,677 (GRCm39)	D799V	probably damaging	Het
Usp28	T	A	9: 48,926,439 (GRCm39)	Y317*	probably null	Het
Vmn1r225	C	T	17: 20,722,960 (GRCm39)	L134F	probably benign	Het
Vmn2r86	A	G	10: 130,288,406 (GRCm39)	I365T	probably benign	Het
Wfikkn2	A	G	11: 94,129,497 (GRCm39)	S215P	probably damaging	Het
Xrcc2	A	G	5: 25,897,124 (GRCm39)	V275A	probably damaging	Het
Zfp423	T	A	8: 88,508,569 (GRCm39)	I592F	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
R8297:Tgm6	UTSW	2	129,979,358 (GRCm39)	missense	probably benign
R8743:Tgm6	UTSW	2	129,985,418 (GRCm39)	missense	probably damaging	0.98
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

PCR Primer
(F):5'- GTCATGAACAGATGGATCCGC -3'
(R):5'- TGGCCATAAAATCGGTAGTCTG -3'

Sequencing Primer
(F):5'- ACAGATGGATCCGCACTGG -3'
(R):5'- CCATAAAATCGGTAGTCTGTGGGC -3'

Posted On

2022-03-25