Incidental Mutation 'R6016:Tgm6'
| ID |
478590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgm6
|
| Ensembl Gene |
ENSMUSG00000027403 |
| Gene Name |
transglutaminase 6 |
| Synonyms |
TGM3L |
| MMRRC Submission |
043255-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
129954336-129996152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129983148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 246
(T246A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028888]
|
| AlphaFold |
Q8BM11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028888
AA Change: T246A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403
AA Change: T246A
| 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: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
| Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
| Dcaf12 |
A |
G |
4: 41,313,267 (GRCm39) |
F93L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
| Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
| Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
| Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
| Gne |
T |
C |
4: 44,039,063 (GRCm39) |
E532G |
probably damaging |
Het |
| Gsdmc3 |
T |
G |
15: 63,740,261 (GRCm39) |
D86A |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,099,922 (GRCm39) |
H256R |
probably damaging |
Het |
| Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
| Mill2 |
G |
T |
7: 18,590,373 (GRCm39) |
S151I |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
| Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
| Or2bd2 |
A |
T |
7: 6,443,613 (GRCm39) |
H238L |
probably benign |
Het |
| Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
| Pde1a |
T |
C |
2: 79,695,406 (GRCm39) |
R446G |
probably benign |
Het |
| Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
| Psg23 |
G |
T |
7: 18,346,112 (GRCm39) |
H194Q |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,053,826 (GRCm39) |
V124A |
possibly damaging |
Het |
| Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
| Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
| Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,882,734 (GRCm39) |
L187P |
probably damaging |
Het |
| Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
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 |
|
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'- TTAAAGGCAAAGAGTGACCCC -3'
(R):5'- AACGAACTGTTTGGTTTCTCTC -3'
Sequencing Primer
(F):5'- GCTTGGGATTCCAAAGCT -3'
(R):5'- CATTCAAATCTATGTAAACCCATGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation