Incidental Mutation 'R5746:Gm11149'
| ID |
445791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm11149
|
| Ensembl Gene |
ENSMUSG00000079564 |
| Gene Name |
predicted gene 11149 |
| Synonyms |
|
| MMRRC Submission |
043199-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R5746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
49429588-49479325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49457494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 393
(G393S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114476]
[ENSMUST00000166811]
[ENSMUST00000192584]
[ENSMUST00000193547]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000068730
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114476
AA Change: G393S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110120
Gene: ENSMUSG00000039542
AA Change: G393S
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
32 |
103 |
2.88e-4 |
SMART |
|
IGc2
|
130 |
196 |
6.35e-6 |
SMART |
|
IGc2
|
226 |
295 |
6.38e-20 |
SMART |
|
IGc2
|
321 |
393 |
4.12e-14 |
SMART |
|
IGc2
|
418 |
487 |
9.7e-11 |
SMART |
|
FN3
|
501 |
586 |
4.77e-8 |
SMART |
|
FN3
|
602 |
683 |
6.97e-1 |
SMART |
|
low complexity region
|
711 |
725 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000166811
AA Change: G393S
|
| SMART Domains |
Protein: ENSMUSP00000130668
Gene: ENSMUSG00000039542
AA Change: G393S
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
32 |
103 |
2.88e-4 |
SMART |
|
IGc2
|
130 |
196 |
6.35e-6 |
SMART |
|
IGc2
|
226 |
295 |
6.38e-20 |
SMART |
|
IGc2
|
321 |
393 |
4.12e-14 |
SMART |
|
IGc2
|
418 |
487 |
9.7e-11 |
SMART |
|
FN3
|
501 |
586 |
4.77e-8 |
SMART |
|
FN3
|
602 |
683 |
6.97e-1 |
SMART |
|
transmembrane domain
|
706 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
830 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192584
AA Change: G393S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141700
Gene: ENSMUSG00000039542
AA Change: G393S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
32 |
103 |
1.2e-6 |
SMART |
|
IGc2
|
130 |
196 |
2.6e-8 |
SMART |
|
IGc2
|
226 |
295 |
2.6e-22 |
SMART |
|
IGc2
|
321 |
393 |
1.6e-16 |
SMART |
|
IGc2
|
418 |
487 |
4e-13 |
SMART |
|
FN3
|
501 |
586 |
2.4e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193547
AA Change: G393S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142275
Gene: ENSMUSG00000039542
AA Change: G393S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IGc2
|
32 |
103 |
2.88e-4 |
SMART |
|
IGc2
|
130 |
196 |
6.35e-6 |
SMART |
|
IGc2
|
226 |
295 |
6.38e-20 |
SMART |
|
IGc2
|
321 |
393 |
4.12e-14 |
SMART |
|
IGc2
|
418 |
487 |
9.7e-11 |
SMART |
|
FN3
|
501 |
586 |
4.77e-8 |
SMART |
|
FN3
|
602 |
683 |
6.97e-1 |
SMART |
|
transmembrane domain
|
706 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
830 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194252
AA Change: G360S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215465
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
A |
G |
3: 105,815,126 (GRCm39) |
E292G |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,606,612 (GRCm39) |
T1187I |
probably damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,789,178 (GRCm39) |
I255K |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,698 (GRCm39) |
N328S |
probably benign |
Het |
| Cbln3 |
A |
G |
14: 56,120,601 (GRCm39) |
S144P |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,358,810 (GRCm39) |
L78Q |
probably null |
Het |
| Cpsf1 |
C |
T |
15: 76,484,037 (GRCm39) |
R761H |
probably benign |
Het |
| Cyp2d10 |
T |
G |
15: 82,289,472 (GRCm39) |
E213D |
probably benign |
Het |
| Gba2 |
T |
C |
4: 43,568,465 (GRCm39) |
|
probably null |
Het |
| Glb1l2 |
G |
A |
9: 26,708,086 (GRCm39) |
A29V |
probably benign |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,544,635 (GRCm39) |
N574S |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,017,427 (GRCm39) |
V1099A |
probably damaging |
Het |
| Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
| Ly6g |
A |
T |
15: 75,028,596 (GRCm39) |
N19Y |
possibly damaging |
Het |
| Nexn |
TCTTCCTTC |
TCTTC |
3: 151,948,513 (GRCm39) |
|
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,390,970 (GRCm39) |
S411P |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ptpn14 |
G |
A |
1: 189,578,610 (GRCm39) |
|
probably null |
Het |
| Smg6 |
G |
A |
11: 75,030,113 (GRCm39) |
G211E |
probably damaging |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,046,184 (GRCm39) |
S440G |
probably damaging |
Het |
| Tpm2 |
A |
G |
4: 43,519,731 (GRCm39) |
V85A |
possibly damaging |
Het |
| Ttf1 |
G |
T |
2: 28,955,754 (GRCm39) |
A373S |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,201,560 (GRCm39) |
T315S |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
probably benign |
Het |
| Zfp146 |
T |
C |
7: 29,861,818 (GRCm39) |
S75G |
probably benign |
Het |
| Zfp994 |
A |
G |
17: 22,420,254 (GRCm39) |
Y232H |
probably damaging |
Het |
|
| Other mutations in Gm11149 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03194:Gm11149
|
APN |
9 |
49,457,646 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03367:Gm11149
|
APN |
9 |
49,457,646 (GRCm39) |
unclassified |
probably benign |
|
|
R2233:Gm11149
|
UTSW |
9 |
49,473,446 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTACTTAGGGCCATAGC -3'
(R):5'- TGTCTCCTAGACCCACACTG -3'
Sequencing Primer
(F):5'- CATAGCTCTGACATAGTTGAGGGCC -3'
(R):5'- AGACCCACACTGCTCTAGTTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation