Incidental Mutation 'IGL00961:Gm21759'
| ID |
306597 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm21759
|
| Ensembl Gene |
ENSMUSG00000094226 |
| Gene Name |
predicted gene, 21759 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL00961
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
8229636-8231463 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 8229731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046838]
[ENSMUST00000050166]
[ENSMUST00000088744]
[ENSMUST00000088761]
[ENSMUST00000115385]
[ENSMUST00000115386]
[ENSMUST00000115388]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046838
|
| SMART Domains |
Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
7e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
9.3e-9 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
808 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050166
|
| SMART Domains |
Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
7.6e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.1e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3.4e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
839 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088744
|
| SMART Domains |
Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
41 |
186 |
4.2e-29 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.2e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
2.9e-65 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
378 |
9.2e-13 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
736 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
898 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088761
|
| SMART Domains |
Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
8.1e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.2e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3.6e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
860 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115385
|
| SMART Domains |
Protein: ENSMUSP00000111043
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
40 |
186 |
5.2e-28 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin
|
237 |
333 |
2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115386
|
| SMART Domains |
Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
3.4e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
5.1e-9 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
5e-59 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
1.6e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
870 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115388
|
| SMART Domains |
Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
8e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.1e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3.5e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
872 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178345
|
| SMART Domains |
Protein: ENSMUSP00000136133
Gene: ENSMUSG00000094226
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
271 |
1.67e-93 |
SMART |
|
low complexity region
|
325 |
339 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921522P10Rik |
C |
A |
8: 8,713,425 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,486,985 (GRCm39) |
I1350F |
probably damaging |
Het |
| Arfip1 |
A |
G |
3: 84,405,095 (GRCm39) |
V236A |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,796,987 (GRCm39) |
I124T |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,367,724 (GRCm39) |
I82F |
possibly damaging |
Het |
| Card11 |
A |
T |
5: 140,885,464 (GRCm39) |
M365K |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,093,997 (GRCm39) |
S1560P |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,229,451 (GRCm39) |
N594K |
possibly damaging |
Het |
| Dmbx1 |
A |
T |
4: 115,777,203 (GRCm39) |
V215E |
probably benign |
Het |
| Farp2 |
A |
T |
1: 93,549,035 (GRCm39) |
E1047V |
possibly damaging |
Het |
| Gpr182 |
C |
T |
10: 127,586,559 (GRCm39) |
V131I |
probably benign |
Het |
| Irx1 |
T |
C |
13: 72,108,076 (GRCm39) |
D202G |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,484,609 (GRCm39) |
D338G |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 90,171,320 (GRCm39) |
I241L |
possibly damaging |
Het |
| Parp6 |
A |
G |
9: 59,540,242 (GRCm39) |
Y265C |
probably damaging |
Het |
| Prex1 |
G |
T |
2: 166,427,656 (GRCm39) |
Q999K |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,599,699 (GRCm39) |
I301T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,331,669 (GRCm39) |
I2294F |
possibly damaging |
Het |
| Ska3 |
T |
C |
14: 58,059,581 (GRCm39) |
I81M |
possibly damaging |
Het |
| Smap1 |
T |
C |
1: 23,887,355 (GRCm39) |
N308S |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,296,611 (GRCm39) |
K490E |
probably benign |
Het |
| Stk11ip |
C |
T |
1: 75,506,910 (GRCm39) |
R664C |
probably damaging |
Het |
| Tmem176b |
T |
A |
6: 48,811,004 (GRCm39) |
I259F |
possibly damaging |
Het |
| Usp37 |
T |
C |
1: 74,529,314 (GRCm39) |
T122A |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,234 (GRCm39) |
E453G |
possibly damaging |
Het |
|
| Other mutations in Gm21759 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01621:Gm21759
|
APN |
5 |
8,229,775 (GRCm39) |
intron |
probably benign |
|
|
IGL01939:Gm21759
|
APN |
5 |
8,230,685 (GRCm39) |
intron |
probably benign |
|
|
IGL01984:Gm21759
|
APN |
5 |
8,230,547 (GRCm39) |
intron |
probably benign |
|
|
IGL02262:Gm21759
|
APN |
5 |
8,230,747 (GRCm39) |
intron |
probably benign |
|
|
IGL02525:Gm21759
|
APN |
5 |
8,229,967 (GRCm39) |
intron |
probably benign |
|
|
R2870:Gm21759
|
UTSW |
5 |
8,230,863 (GRCm39) |
intron |
probably benign |
|
|
R2871:Gm21759
|
UTSW |
5 |
8,230,863 (GRCm39) |
intron |
probably benign |
|
|
R2872:Gm21759
|
UTSW |
5 |
8,230,863 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation