Mutagenetix > Incidental Mutation

Incidental Mutation 'R8143:Tgm6'

632624

Institutional Source

Beutler Lab

Gene Symbol

Tgm6

Ensembl Gene

ENSMUSG00000027403

Gene Name

transglutaminase 6

Synonyms

TGM3L

MMRRC Submission

067571-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8143 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

129954336-129996152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129983763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 307 (N307K)

Ref Sequence

ENSEMBL: ENSMUSP00000028888 (fasta)

Gene Model

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

AlphaFold

Q8BM11

Predicted Effect

probably damaging
Transcript: ENSMUST00000028888
AA Change: N307K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403
AA Change: N307K

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.3%
20x: 85.9%

Validation Efficiency

100% (65/65)

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
4930402F06Rik	C	A	2: 35,265,884 (GRCm39)	C262F	probably damaging	Het
Acss1	T	C	2: 150,509,801 (GRCm39)		probably null	Het
Adamtsl1	T	C	4: 86,260,492 (GRCm39)	V909A	possibly damaging	Het
Adprh	G	A	16: 38,270,694 (GRCm39)	T37M	probably benign	Het
Ak9	T	A	10: 41,213,588 (GRCm39)	Y264*	probably null	Het
Aox3	G	T	1: 58,198,074 (GRCm39)	A629S	probably benign	Het
Apcs	G	A	1: 172,721,900 (GRCm39)	P149S	probably damaging	Het
Arnt	T	A	3: 95,377,294 (GRCm39)		probably null	Het
Asb13	G	A	13: 3,692,065 (GRCm39)	G15D	probably damaging	Het
Bltp1	T	G	3: 37,000,657 (GRCm39)		probably null	Het
Cacnb1	T	G	11: 97,894,146 (GRCm39)	T459P	probably benign	Het
Chrnb2	T	C	3: 89,654,630 (GRCm39)	T718A	unknown	Het
Cttn	T	A	7: 144,014,999 (GRCm39)	K70*	probably null	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cyp39a1	T	C	17: 44,036,517 (GRCm39)	V349A	probably benign	Het
Ebf2	C	A	14: 67,649,386 (GRCm39)	Y430*	probably null	Het
Eef2	T	C	10: 81,017,182 (GRCm39)	Y730H	probably damaging	Het
Eif2ak2	G	A	17: 79,165,961 (GRCm39)	T412I	probably benign	Het
Flnc	G	C	6: 29,441,484 (GRCm39)	R422P	probably benign	Het
Fryl	G	A	5: 73,207,682 (GRCm39)	A2496V	probably benign	Het
Galnt6	A	G	15: 100,614,088 (GRCm39)	L71P	probably damaging	Het
Gm7579	C	T	7: 141,766,163 (GRCm39)	Q190*	probably null	Het
H2-T3	T	A	17: 36,498,384 (GRCm39)	R220S	probably benign	Het
Hmcn1	A	G	1: 150,734,957 (GRCm39)	V185A	probably benign	Het
Ifi208	T	A	1: 173,510,242 (GRCm39)	D132E	possibly damaging	Het
Itgb4	G	A	11: 115,884,255 (GRCm39)	V981I	probably damaging	Het
Itsn2	A	G	12: 4,683,003 (GRCm39)	T310A	unknown	Het
Kat5	A	G	19: 5,657,577 (GRCm39)		probably null	Het
Kif22	A	T	7: 126,632,397 (GRCm39)	D304E	probably damaging	Het
Mapre3	A	T	5: 31,020,719 (GRCm39)	N147Y	possibly damaging	Het
Morc2a	T	C	11: 3,628,537 (GRCm39)	V330A	probably benign	Het
Mylk	G	A	16: 34,734,525 (GRCm39)	V709M	possibly damaging	Het
Myo3a	T	G	2: 22,287,476 (GRCm39)		probably null	Het
N4bp2l2	A	T	5: 150,585,670 (GRCm39)	D103E	probably benign	Het
Nckap1	T	C	2: 80,336,530 (GRCm39)	K1062R	possibly damaging	Het
Nol9	T	C	4: 152,125,559 (GRCm39)	V170A	possibly damaging	Het
Numa1	A	G	7: 101,648,891 (GRCm39)	Q874R	possibly damaging	Het
Olig3	T	G	10: 19,232,732 (GRCm39)	V119G	probably damaging	Het
Or7g34	A	G	9: 19,478,587 (GRCm39)	V31A	probably benign	Het
Osbpl9	A	G	4: 108,922,906 (GRCm39)	S485P	probably benign	Het
Otogl	A	G	10: 107,642,527 (GRCm39)	F1301S	probably damaging	Het
Pank3	A	G	11: 35,667,036 (GRCm39)	Y51C	probably damaging	Het
Pex5l	T	C	3: 33,136,658 (GRCm39)		probably benign	Het
Pgm1	G	A	4: 99,824,415 (GRCm39)		probably null	Het
Psmd9	T	G	5: 123,366,479 (GRCm39)	I37S	probably damaging	Het
Qtrt2	A	G	16: 43,692,117 (GRCm39)	S135P	probably damaging	Het
Rexo5	T	A	7: 119,433,484 (GRCm39)		probably null	Het
Rsrp1	T	A	4: 134,654,319 (GRCm39)	D286E	probably benign	Het
Scara3	C	T	14: 66,169,269 (GRCm39)	C116Y	probably damaging	Het
Serpina3b	A	T	12: 104,096,793 (GRCm39)	T25S	probably benign	Het
Sh3pxd2a	G	A	19: 47,257,138 (GRCm39)	P555S	probably damaging	Het
Slc1a2	T	A	2: 102,568,230 (GRCm39)	L89Q	probably damaging	Het
Tmem86b	G	T	7: 4,631,484 (GRCm39)	D189E	probably damaging	Het
Trim65	G	A	11: 116,017,287 (GRCm39)	R392C	probably benign	Het
Trpc7	T	C	13: 56,930,362 (GRCm39)	T769A	probably benign	Het
Trrap	T	A	5: 144,772,707 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,693,677 (GRCm39)	E397G	possibly damaging	Het
Vcl	A	T	14: 21,037,112 (GRCm39)	M237L	possibly damaging	Het
Vmn1r36	G	A	6: 66,693,036 (GRCm39)	Q280*	probably null	Het
Vmn2r23	A	T	6: 123,718,312 (GRCm39)	D555V	probably damaging	Het
Wnk4	A	G	11: 101,153,625 (GRCm39)	N229S	probably damaging	Het
Zfp784	A	C	7: 5,038,910 (GRCm39)	V216G	possibly 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
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
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

PCR Primer
(F):5'- ATGGAAGCCCTCTGAGAGAG -3'
(R):5'- ATACATTGGTAACTGTCCGGGAG -3'

Sequencing Primer
(F):5'- CCCTCTGAGAGAGTGCAGAG -3'
(R):5'- TTGGTAACTGTCCGGGAGCTAAAG -3'

Posted On

2020-06-30