Incidental Mutation 'R2428:Gstm6'
| ID |
250305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstm6
|
| Ensembl Gene |
ENSMUSG00000068762 |
| Gene Name |
glutathione S-transferase, mu 6 |
| Synonyms |
|
| MMRRC Submission |
040390-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2428 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107846163-107851065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107850922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 10
(I10F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106681]
[ENSMUST00000106683]
[ENSMUST00000106684]
[ENSMUST00000106685]
[ENSMUST00000155926]
|
| AlphaFold |
O35660 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106680
|
| SMART Domains |
Protein: ENSMUSP00000102291
Gene: ENSMUSG00000068762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
77 |
6.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106681
|
| SMART Domains |
Protein: ENSMUSP00000102292
Gene: ENSMUSG00000068762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
1 |
48 |
9.4e-12 |
PFAM |
|
Pfam:GST_C_3
|
7 |
154 |
7.6e-11 |
PFAM |
|
Pfam:GST_C
|
70 |
154 |
3.6e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106683
|
| SMART Domains |
Protein: ENSMUSP00000102294
Gene: ENSMUSG00000068762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_C_3
|
4 |
95 |
6.3e-11 |
PFAM |
|
Pfam:GST_C
|
6 |
97 |
2.1e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106684
AA Change: I10F
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102295
Gene: ENSMUSG00000068762
AA Change: I10F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
82 |
2e-22 |
PFAM |
|
Pfam:GST_C_3
|
41 |
204 |
4.1e-12 |
PFAM |
|
Pfam:GST_C
|
104 |
205 |
5.9e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106685
AA Change: I10F
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102296
Gene: ENSMUSG00000068762
AA Change: I10F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
82 |
7.9e-23 |
PFAM |
|
Pfam:GST_C
|
104 |
192 |
8.4e-20 |
PFAM |
|
Pfam:GST_C_3
|
113 |
190 |
6.8e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155926
|
| SMART Domains |
Protein: ENSMUSP00000139500
Gene: ENSMUSG00000068762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
1 |
48 |
1.9e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.7019 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
A |
3: 36,145,072 (GRCm39) |
A624T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,439,916 (GRCm39) |
A828V |
possibly damaging |
Het |
| Bag6 |
A |
C |
17: 35,366,151 (GRCm39) |
D1117A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,509,533 (GRCm39) |
C3042S |
probably benign |
Het |
| Ctc1 |
G |
A |
11: 68,918,527 (GRCm39) |
V265I |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,480,961 (GRCm39) |
Y298C |
probably damaging |
Het |
| Dmtn |
G |
A |
14: 70,850,843 (GRCm39) |
R183W |
probably damaging |
Het |
| F2rl2 |
T |
A |
13: 95,833,585 (GRCm39) |
I5N |
possibly damaging |
Het |
| Gpr137c |
A |
G |
14: 45,516,420 (GRCm39) |
Y336C |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,955,705 (GRCm39) |
C1340* |
probably null |
Het |
| Igf1 |
A |
G |
10: 87,700,683 (GRCm39) |
T36A |
probably damaging |
Het |
| Lrch1 |
T |
A |
14: 75,044,985 (GRCm39) |
|
probably benign |
Het |
| Mrpl40 |
A |
T |
16: 18,691,125 (GRCm39) |
I195N |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Ndufc1 |
A |
C |
3: 51,315,564 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,523,392 (GRCm39) |
N973S |
possibly damaging |
Het |
| Or4f62 |
G |
A |
2: 111,986,787 (GRCm39) |
V164I |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,675 (GRCm39) |
R188* |
probably null |
Het |
| Or6c212 |
T |
C |
10: 129,558,652 (GRCm39) |
I254V |
probably benign |
Het |
| Or9g19 |
A |
T |
2: 85,600,322 (GRCm39) |
Y59F |
probably damaging |
Het |
| Pkdrej |
C |
A |
15: 85,701,773 (GRCm39) |
E1388* |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,106,067 (GRCm39) |
D1482E |
probably benign |
Het |
| Relch |
C |
T |
1: 105,673,851 (GRCm39) |
S1080L |
possibly damaging |
Het |
| Sppl2a |
A |
T |
2: 126,754,615 (GRCm39) |
S403R |
possibly damaging |
Het |
| Tespa1 |
A |
G |
10: 130,197,944 (GRCm39) |
D322G |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,288,569 (GRCm39) |
V373M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,644,517 (GRCm39) |
N13079S |
possibly damaging |
Het |
| Wdr53 |
A |
G |
16: 32,071,008 (GRCm39) |
I118V |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,774 (GRCm39) |
M1051T |
probably benign |
Het |
| Zfp784 |
G |
C |
7: 5,041,357 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gstm6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01321:Gstm6
|
APN |
3 |
107,848,379 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02100:Gstm6
|
APN |
3 |
107,849,653 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02685:Gstm6
|
APN |
3 |
107,848,507 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1221:Gstm6
|
UTSW |
3 |
107,848,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2763:Gstm6
|
UTSW |
3 |
107,848,358 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6178:Gstm6
|
UTSW |
3 |
107,848,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6545:Gstm6
|
UTSW |
3 |
107,849,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Gstm6
|
UTSW |
3 |
107,850,041 (GRCm39) |
nonsense |
probably null |
|
|
R8240:Gstm6
|
UTSW |
3 |
107,849,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9354:Gstm6
|
UTSW |
3 |
107,850,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Gstm6
|
UTSW |
3 |
107,850,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGACAGAGTTTGGACTG -3'
(R):5'- GCCTTCGGTATCTGAAAGCTC -3'
Sequencing Primer
(F):5'- GGGAATCTTCTTCGTGGA -3'
(R):5'- CGGATGATAGCTCCTGGAATTAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation