Incidental Mutation 'R2922:Dlgap5'
| ID |
255591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlgap5
|
| Ensembl Gene |
ENSMUSG00000037544 |
| Gene Name |
DLG associated protein 5 |
| Synonyms |
Dlg7, C86398, Hurp |
| MMRRC Submission |
040507-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R2922 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47625236-47655864 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 47627898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043296]
[ENSMUST00000142734]
[ENSMUST00000146468]
[ENSMUST00000150290]
[ENSMUST00000178661]
[ENSMUST00000180299]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043296
|
| SMART Domains |
Protein: ENSMUSP00000040416
Gene: ENSMUSG00000037544
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
86 |
116 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
327 |
590 |
2.2e-38 |
PFAM |
|
low complexity region
|
735 |
757 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142734
|
| SMART Domains |
Protein: ENSMUSP00000118169
Gene: ENSMUSG00000050335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
127 |
N/A |
INTRINSIC |
|
GLECT
|
130 |
262 |
8.36e-57 |
SMART |
|
Gal-bind_lectin
|
136 |
261 |
1.02e-57 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146468
|
| SMART Domains |
Protein: ENSMUSP00000119275
Gene: ENSMUSG00000050335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
127 |
N/A |
INTRINSIC |
|
GLECT
|
130 |
262 |
8.36e-57 |
SMART |
|
Gal-bind_lectin
|
136 |
261 |
1.02e-57 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150290
|
| SMART Domains |
Protein: ENSMUSP00000114350
Gene: ENSMUSG00000050335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
127 |
N/A |
INTRINSIC |
|
GLECT
|
130 |
262 |
8.36e-57 |
SMART |
|
Gal-bind_lectin
|
136 |
261 |
1.02e-57 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179465
|
| Predicted Effect |
silent
Transcript: ENSMUST00000180299
|
| Meta Mutation Damage Score |
0.9583 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display female infertility resulting from a defect in decidualization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Bsn |
C |
T |
9: 107,985,385 (GRCm39) |
V2890M |
unknown |
Het |
| Bsn |
T |
C |
9: 107,992,668 (GRCm39) |
E1028G |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
| Cdk11b |
CAGAAGAAG |
CAGAAG |
4: 155,725,201 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
| Clpb |
A |
G |
7: 101,372,035 (GRCm39) |
D257G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dmwd |
T |
C |
7: 18,810,270 (GRCm39) |
F26L |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,057,100 (GRCm39) |
|
probably benign |
Het |
| Flii |
A |
G |
11: 60,609,742 (GRCm39) |
Y622H |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,240,333 (GRCm39) |
E17V |
probably benign |
Het |
| Ghrh |
T |
C |
2: 157,173,797 (GRCm39) |
|
probably null |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
| Hgd |
T |
C |
16: 37,439,330 (GRCm39) |
F213L |
probably damaging |
Het |
| Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,675,912 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
T |
C |
3: 89,428,329 (GRCm39) |
V185A |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,050,536 (GRCm39) |
T739A |
probably benign |
Het |
| Mib1 |
C |
T |
18: 10,760,831 (GRCm39) |
Q374* |
probably null |
Het |
| Myh9 |
A |
G |
15: 77,697,384 (GRCm39) |
L10P |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
| Nr3c1 |
C |
A |
18: 39,620,156 (GRCm39) |
A44S |
possibly damaging |
Het |
| Or10n1 |
G |
A |
9: 39,525,060 (GRCm39) |
V66I |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,794 (GRCm39) |
V148A |
probably benign |
Het |
| Ovch2 |
A |
G |
7: 107,389,596 (GRCm39) |
L317P |
possibly damaging |
Het |
| Pcolce2 |
T |
A |
9: 95,576,767 (GRCm39) |
L346Q |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,530,551 (GRCm39) |
|
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 86,909,591 (GRCm39) |
V660A |
possibly damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,494 (GRCm39) |
S1648P |
probably damaging |
Het |
| Tmem198b |
G |
A |
10: 128,638,062 (GRCm39) |
T167I |
probably damaging |
Het |
| Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,206,811 (GRCm39) |
N4886S |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,692,405 (GRCm39) |
S956G |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,790,459 (GRCm39) |
V482E |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,724 (GRCm39) |
P2986S |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,224 (GRCm39) |
E273G |
probably damaging |
Het |
|
| Other mutations in Dlgap5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:Dlgap5
|
APN |
14 |
47,635,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01110:Dlgap5
|
APN |
14 |
47,631,783 (GRCm39) |
splice site |
probably benign |
|
|
IGL02943:Dlgap5
|
APN |
14 |
47,650,433 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4453001:Dlgap5
|
UTSW |
14 |
47,638,979 (GRCm39) |
frame shift |
probably null |
|
|
R0189:Dlgap5
|
UTSW |
14 |
47,650,432 (GRCm39) |
splice site |
probably null |
|
|
R0383:Dlgap5
|
UTSW |
14 |
47,647,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1078:Dlgap5
|
UTSW |
14 |
47,637,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Dlgap5
|
UTSW |
14 |
47,645,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1959:Dlgap5
|
UTSW |
14 |
47,653,843 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2051:Dlgap5
|
UTSW |
14 |
47,648,941 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2145:Dlgap5
|
UTSW |
14 |
47,633,380 (GRCm39) |
nonsense |
probably null |
|
|
R4261:Dlgap5
|
UTSW |
14 |
47,651,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Dlgap5
|
UTSW |
14 |
47,650,475 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4724:Dlgap5
|
UTSW |
14 |
47,638,977 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4898:Dlgap5
|
UTSW |
14 |
47,651,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5135:Dlgap5
|
UTSW |
14 |
47,637,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Dlgap5
|
UTSW |
14 |
47,651,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Dlgap5
|
UTSW |
14 |
47,649,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5849:Dlgap5
|
UTSW |
14 |
47,626,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5958:Dlgap5
|
UTSW |
14 |
47,651,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6845:Dlgap5
|
UTSW |
14 |
47,654,020 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7163:Dlgap5
|
UTSW |
14 |
47,637,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Dlgap5
|
UTSW |
14 |
47,653,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7646:Dlgap5
|
UTSW |
14 |
47,636,976 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8029:Dlgap5
|
UTSW |
14 |
47,653,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8084:Dlgap5
|
UTSW |
14 |
47,645,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9126:Dlgap5
|
UTSW |
14 |
47,638,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Dlgap5
|
UTSW |
14 |
47,651,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dlgap5
|
UTSW |
14 |
47,625,520 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATTGCTCTCTGAAGCATC -3'
(R):5'- AAACGAATTTGCCTCTTCCTG -3'
Sequencing Primer
(F):5'- AACAAGGTCTCGCTGCATTG -3'
(R):5'- CTGCTGGTGATGCTAATACCAATC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation