Mutagenetix > Incidental Mutation

Incidental Mutation 'R7581:Tgm6'

586727

Institutional Source

Beutler Lab

Gene Symbol

Tgm6

Ensembl Gene

ENSMUSG00000027403

Gene Name

transglutaminase 6

Synonyms

TGM3L

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7581 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130112416-130154232 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130141285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 265 (R265W)

Ref Sequence

ENSEMBL: ENSMUSP00000028888 (fasta)

Gene Model

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

AlphaFold

Q8BM11

Predicted Effect

probably damaging
Transcript: ENSMUST00000028888
AA Change: R265W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403
AA Change: R265W

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: 99.2%

Validation Efficiency

98% (47/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	G	A	5: 109,690,788		probably benign	Het
Adamts9	A	C	6: 92,937,338	D196E	probably benign	Het
Adnp	A	T	2: 168,183,466	D636E	probably damaging	Het
Afdn	T	C	17: 13,849,238	V723A	probably damaging	Het
Arid1a	A	T	4: 133,680,351	F1897I	unknown	Het
Atp6v0b	T	C	4: 117,885,286	M137V	probably benign	Het
Bicd1	T	A	6: 149,519,004	I784N	probably damaging	Het
Cckbr	A	G	7: 105,433,786	T119A	probably benign	Het
Creb5	T	C	6: 53,681,237	L184P	probably damaging	Het
Cyp2a22	T	G	7: 26,938,148	K141Q	possibly damaging	Het
D16Ertd472e	T	C	16: 78,546,557	T219A	possibly damaging	Het
Ep400	A	T	5: 110,756,025	L236Q	unknown	Het
Exph5	A	G	9: 53,372,557	S313G	possibly damaging	Het
Gm10024	T	C	10: 77,711,563	V36A	unknown	Het
Gm5493	A	G	17: 22,747,274	E44G	probably damaging	Het
Gtdc1	A	T	2: 44,790,005		probably null	Het
Invs	T	C	4: 48,421,909	V847A	probably benign	Het
Kif18b	C	A	11: 102,914,722	Q236H	probably damaging	Het
Kntc1	A	G	5: 123,816,755	T2079A	probably benign	Het
Large2	A	G	2: 92,370,193	S89P	probably damaging	Het
Maml3	A	C	3: 51,856,768	D258E	probably benign	Het
Mdga2	A	T	12: 66,506,255	M868K	probably damaging	Het
Mtss1l	A	G	8: 110,726,213	E30G	possibly damaging	Het
Muc16	T	C	9: 18,645,614	I3128V	unknown	Het
Mug2	C	T	6: 122,063,711	T740I	probably damaging	Het
Noc2l	T	C	4: 156,245,449	V612A	probably benign	Het
Olfr420	G	A	1: 174,158,771		probably null	Het
Olfr979	A	T	9: 40,000,422	D268E	probably damaging	Het
Padi6	T	C	4: 140,728,929	T585A	probably benign	Het
Pcdhga1	A	T	18: 37,662,177	N78I	probably damaging	Het
Pdgfd	A	G	9: 6,293,894	Y156C	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452		probably benign	Het
Pi4ka	C	T	16: 17,301,060	V1307I		Het
Pip5k1c	A	G	10: 81,308,960	N212D	probably damaging	Het
Plekha1	A	G	7: 130,910,865	T264A	probably benign	Het
Polr2b	A	G	5: 77,326,704	R463G	probably damaging	Het
Psd2	T	G	18: 35,979,997	D248E	probably benign	Het
Rag1	G	T	2: 101,643,304	Q498K	possibly damaging	Het
Ryr3	A	G	2: 112,753,027	I2853T	probably damaging	Het
Selenow	G	T	7: 15,922,382		probably null	Het
Sned1	C	T	1: 93,256,545	S165F	probably benign	Het
Spata31d1a	A	G	13: 59,704,139		probably null	Het
Taar4	C	A	10: 23,961,154	H221N	probably damaging	Het
Trpm1	A	T	7: 64,204,555	Q275L	probably benign	Het
Ulk3	T	C	9: 57,592,042	L173P	probably damaging	Het
Urah	A	T	7: 140,835,627	T3S	probably benign	Het
Vmn1r149	A	T	7: 22,437,904	V109D	probably damaging	Het
Xpc	A	T	6: 91,498,017		probably benign	Het
Zglp1	T	A	9: 21,062,708	K227N	probably damaging	Het

Other mutations in Tgm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Tgm6	APN	2	130136495	missense	probably benign	0.00
IGL01331:Tgm6	APN	2	130143618	splice site	probably null
IGL01348:Tgm6	APN	2	130137379	missense	probably damaging	1.00
IGL01787:Tgm6	APN	2	130151434	splice site	probably benign
IGL02208:Tgm6	APN	2	130135870	missense	probably benign	0.11
IGL02656:Tgm6	APN	2	130145103	missense	probably damaging	1.00
IGL03280:Tgm6	APN	2	130138931	missense	probably damaging	1.00
R0200:Tgm6	UTSW	2	130152945	splice site	probably null
R0507:Tgm6	UTSW	2	130138831	missense	possibly damaging	0.56
R0744:Tgm6	UTSW	2	130151761	missense	probably benign	0.00
R0800:Tgm6	UTSW	2	130143422	missense	possibly damaging	0.94
R1530:Tgm6	UTSW	2	130151282	missense	possibly damaging	0.71
R1573:Tgm6	UTSW	2	130151740	missense	probably benign	0.00
R1706:Tgm6	UTSW	2	130145159	missense	possibly damaging	0.53
R2330:Tgm6	UTSW	2	130143242	missense	probably damaging	1.00
R2881:Tgm6	UTSW	2	130137439	missense	probably benign	0.04
R2882:Tgm6	UTSW	2	130137439	missense	probably benign	0.04
R3622:Tgm6	UTSW	2	130151761	missense	possibly damaging	0.86
R3624:Tgm6	UTSW	2	130151761	missense	possibly damaging	0.86
R4370:Tgm6	UTSW	2	130143605	missense	probably benign	0.12
R4664:Tgm6	UTSW	2	130137394	missense	probably benign	0.05
R4664:Tgm6	UTSW	2	130141208	missense	probably benign	0.34
R4983:Tgm6	UTSW	2	130141193	missense	probably damaging	0.99
R5182:Tgm6	UTSW	2	130141302	missense	probably damaging	0.98
R5397:Tgm6	UTSW	2	130141908	missense	possibly damaging	0.90
R5411:Tgm6	UTSW	2	130145196	missense	probably benign	0.01
R5683:Tgm6	UTSW	2	130138955	missense	probably damaging	1.00
R5933:Tgm6	UTSW	2	130141256	missense	probably damaging	1.00
R6016:Tgm6	UTSW	2	130141228	missense	probably damaging	0.99
R7252:Tgm6	UTSW	2	130144964	missense	probably damaging	1.00
R7290:Tgm6	UTSW	2	130141190	missense	probably damaging	1.00
R8143:Tgm6	UTSW	2	130141843	missense	probably damaging	0.98
R8153:Tgm6	UTSW	2	130145055	missense	probably benign	0.00
R8219:Tgm6	UTSW	2	130151280	missense	probably benign
R8297:Tgm6	UTSW	2	130137438	missense	probably benign
R8743:Tgm6	UTSW	2	130143498	missense	probably damaging	0.98
R9312:Tgm6	UTSW	2	130135781	missense	probably benign
R9346:Tgm6	UTSW	2	130141856	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGATTCCAAAGCTTGAAGATG -3'
(R):5'- AACGAACTGTTTGGTTTCTCTC -3'

Sequencing Primer
(F):5'- TCCAAAGCTTGAAGATGAGTTTAC -3'
(R):5'- GTTTGGTTTCTCTCTTCCTTAACCAG -3'

Posted On

2019-10-24