Mutagenetix > Incidental Mutation

Incidental Mutation 'R0200:Tgm6'

23537

Institutional Source

Beutler Lab

Gene Symbol

Tgm6

Ensembl Gene

ENSMUSG00000027403

Gene Name

transglutaminase 6

Synonyms

TGM3L

MMRRC Submission

038457-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0200 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

129954336-129996152 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 129994865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028888 (fasta)

Gene Model

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

AlphaFold

Q8BM11

Predicted Effect

probably null
Transcript: ENSMUST00000028888

SMART Domains

Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147616

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,336,502 (GRCm39)	K466E	probably damaging	Het
Abcc3	T	C	11: 94,245,900 (GRCm39)	D1245G	probably damaging	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ank1	T	G	8: 23,586,828 (GRCm39)	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,332,792 (GRCm39)	S402G	possibly damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,815,676 (GRCm39)	Q107*	probably null	Het
Cacng3	T	A	7: 122,271,008 (GRCm39)	C4*	probably null	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cecr2	T	G	6: 120,738,758 (GRCm39)	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,311,065 (GRCm39)	V17A	probably benign	Het
Col20a1	T	C	2: 180,642,231 (GRCm39)	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,419,119 (GRCm39)	M156K	possibly damaging	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Defb25	C	A	2: 152,464,332 (GRCm39)	V71L	probably benign	Het
Dhx35	A	T	2: 158,671,543 (GRCm39)	M325L	probably benign	Het
Dhx57	A	T	17: 80,558,902 (GRCm39)	L1019H	probably damaging	Het
Dnah6	T	A	6: 73,046,403 (GRCm39)	D3195V	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Dpm1	C	A	2: 168,065,075 (GRCm39)		probably null	Het
Dsg1a	A	T	18: 20,473,995 (GRCm39)	M1023L	probably benign	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,251,866 (GRCm39)	Y455C	probably damaging	Het
Iars1	A	T	13: 49,879,678 (GRCm39)	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,470,545 (GRCm39)	G325V	probably damaging	Het
Il1rl1	T	A	1: 40,480,463 (GRCm39)	W31R	possibly damaging	Het
Ip6k3	C	T	17: 27,363,999 (GRCm39)	D350N	probably damaging	Het
Irgc	T	C	7: 24,131,431 (GRCm39)	D462G	probably benign	Het
Itprid1	T	C	6: 55,874,941 (GRCm39)	L297P	probably benign	Het
Jph3	A	G	8: 122,511,572 (GRCm39)	E520G	probably benign	Het
Kcna2	T	A	3: 107,012,476 (GRCm39)	D352E	probably benign	Het
Klk4	T	A	7: 43,534,785 (GRCm39)	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,876,123 (GRCm39)	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,801,035 (GRCm39)		probably null	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lypd3	T	A	7: 24,339,656 (GRCm39)	V241D	probably damaging	Het
Lyz2	T	A	10: 117,116,678 (GRCm39)	N57Y	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mcm4	G	A	16: 15,447,503 (GRCm39)	T487I	probably benign	Het
Mettl21c	T	A	1: 44,052,814 (GRCm39)	I68F	probably damaging	Het
Miip	T	A	4: 147,946,720 (GRCm39)	T313S	probably damaging	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mog	A	T	17: 37,323,311 (GRCm39)	I209K	probably damaging	Het
Myo1c	C	A	11: 75,563,008 (GRCm39)	D997E	probably benign	Het
Npc1	T	C	18: 12,352,261 (GRCm39)	Y146C	probably damaging	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Opa1	A	G	16: 29,432,947 (GRCm39)	N544S	probably benign	Het
Or2j6	T	C	7: 139,980,788 (GRCm39)	Y57C	probably damaging	Het
Or2v1	T	A	11: 49,025,874 (GRCm39)	M285K	probably damaging	Het
Or6k6	T	C	1: 173,945,078 (GRCm39)	H168R	probably benign	Het
Pam	C	T	1: 97,822,126 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,300,575 (GRCm39)	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,174,023 (GRCm39)	V1191M	probably damaging	Het
Polk	T	A	13: 96,633,330 (GRCm39)	N238Y	probably benign	Het
Ptprq	T	C	10: 107,521,018 (GRCm39)	N718S	probably benign	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,341,028 (GRCm39)	K238R	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Slc12a4	T	C	8: 106,678,249 (GRCm39)	R315G	probably benign	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc28a2b	T	A	2: 122,357,928 (GRCm39)	*661R	probably null	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spata7	T	A	12: 98,629,428 (GRCm39)	S332T	probably benign	Het
Spsb1	A	G	4: 149,982,673 (GRCm39)	*274R	probably null	Het
Sspo	T	G	6: 48,463,349 (GRCm39)	V3767G	probably null	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Them7	A	C	2: 105,128,262 (GRCm39)	N81T	probably damaging	Het
Tinag	C	A	9: 76,859,217 (GRCm39)	A464S	probably damaging	Het
Tmem217	T	G	17: 29,745,284 (GRCm39)	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,637,603 (GRCm39)	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,409,084 (GRCm39)	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,547,379 (GRCm39)	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,886,817 (GRCm39)	M242T	probably benign	Het
Xkr4	T	C	1: 3,740,886 (GRCm39)	N229S	probably benign	Het
Zcchc2	T	A	1: 105,931,853 (GRCm39)	L352M	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp638	T	C	6: 83,944,336 (GRCm39)	L1018P	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
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
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'- CCCCTGTTGTGTTGGGGAAAGTAAG -3'
(R):5'- CAAGAAGTGGTGAGTTACCTGGGC -3'

Sequencing Primer
(F):5'- TGTTACAGCCAAAGCCGAG -3'
(R):5'- AGGGTTACTGAGTCCAGCAC -3'

Posted On

2013-04-16