Incidental Mutation 'R4846:Dip2a'
| ID |
372175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2a
|
| Ensembl Gene |
ENSMUSG00000020231 |
| Gene Name |
disco interacting protein 2 homolog A |
| Synonyms |
Kiaa0184-hp, 4931420H10Rik, Dip2 |
| MMRRC Submission |
042459-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4846 (G1)
|
| Quality Score |
178 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
76259429-76345291 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76321493 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 93
(S93P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036033]
[ENSMUST00000105417]
[ENSMUST00000160048]
|
| AlphaFold |
Q8BWT5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036033
AA Change: S93P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: S93P
| Domain | Start | End | E-Value | Type |
|---|
|
DMAP_binding
|
9 |
122 |
2.55e-35 |
SMART |
|
low complexity region
|
173 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
330 |
806 |
4.3e-26 |
PFAM |
|
Pfam:AMP-binding
|
982 |
1456 |
1.4e-52 |
PFAM |
|
low complexity region
|
1487 |
1498 |
N/A |
INTRINSIC |
|
low complexity region
|
1511 |
1532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105417
AA Change: S93P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: S93P
| Domain | Start | End | E-Value | Type |
|---|
|
DMAP_binding
|
9 |
122 |
2.55e-35 |
SMART |
|
low complexity region
|
173 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
330 |
806 |
6.6e-28 |
PFAM |
|
Pfam:AMP-binding
|
992 |
1466 |
7.3e-65 |
PFAM |
|
low complexity region
|
1497 |
1508 |
N/A |
INTRINSIC |
|
low complexity region
|
1521 |
1542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160048
|
| SMART Domains |
Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
| Domain | Start | End | E-Value | Type |
|---|
|
DMAP_binding
|
9 |
83 |
7.94e-23 |
SMART |
|
low complexity region
|
134 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
254 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
291 |
767 |
5.3e-26 |
PFAM |
|
Pfam:AMP-binding
|
943 |
1417 |
1.7e-52 |
PFAM |
|
low complexity region
|
1448 |
1459 |
N/A |
INTRINSIC |
|
low complexity region
|
1472 |
1493 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162766
|
| Meta Mutation Damage Score |
0.4532 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
A |
14: 70,155,943 (GRCm38) |
H299L |
probably damaging |
Het |
| Abcb4 |
C |
T |
5: 8,935,180 (GRCm38) |
A687V |
probably benign |
Het |
| Abtb3 |
A |
G |
10: 85,629,266 (GRCm38) |
T657A |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 40,795,011 (GRCm38) |
T53A |
probably benign |
Het |
| Afg1l |
G |
A |
10: 42,454,494 (GRCm38) |
T59I |
probably benign |
Het |
| AI837181 |
A |
G |
19: 5,426,301 (GRCm38) |
Q164R |
probably benign |
Het |
| Anapc15 |
T |
A |
7: 101,897,767 (GRCm38) |
I12N |
probably benign |
Het |
| Ankrd55 |
A |
C |
13: 112,363,454 (GRCm38) |
E278D |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,942,299 (GRCm38) |
T437A |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,784,081 (GRCm38) |
D168G |
probably damaging |
Het |
| Cd200 |
C |
T |
16: 45,392,301 (GRCm38) |
R261H |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,421,102 (GRCm38) |
S123L |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,484,690 (GRCm38) |
D156E |
probably damaging |
Het |
| Ctss |
C |
T |
3: 95,545,384 (GRCm38) |
Q159* |
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,658,126 (GRCm38) |
T3700N |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,616,809 (GRCm38) |
R542Q |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,954,311 (GRCm38) |
D491G |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,536,893 (GRCm38) |
M140K |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,371,837 (GRCm38) |
V14A |
probably benign |
Het |
| Gm17546 |
C |
A |
15: 95,829,962 (GRCm38) |
|
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,864,267 (GRCm38) |
V257L |
possibly damaging |
Het |
| Hc |
A |
G |
2: 35,019,670 (GRCm38) |
V866A |
probably benign |
Het |
| Hoxb6 |
G |
A |
11: 96,299,522 (GRCm38) |
G116R |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,920,606 (GRCm38) |
Y43C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,821,148 (GRCm38) |
T495A |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,342,972 (GRCm38) |
V755E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,479,113 (GRCm38) |
D2814V |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,256,997 (GRCm38) |
N406K |
probably damaging |
Het |
| Met |
A |
T |
6: 17,491,929 (GRCm38) |
D230V |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,482,836 (GRCm38) |
V78D |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,808,536 (GRCm38) |
T112A |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,163,163 (GRCm38) |
E566D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,175,579 (GRCm38) |
S235P |
probably damaging |
Het |
| Npas4 |
C |
A |
19: 4,986,777 (GRCm38) |
S453I |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,862,403 (GRCm38) |
S113L |
probably damaging |
Het |
| Psg18 |
A |
T |
7: 18,350,786 (GRCm38) |
Y128* |
probably null |
Het |
| Ptges3l |
A |
T |
11: 101,419,184 (GRCm38) |
|
probably benign |
Het |
| Pus1 |
T |
C |
5: 110,779,930 (GRCm38) |
|
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,644,583 (GRCm38) |
S12C |
possibly damaging |
Het |
| Rps6-ps2 |
T |
G |
8: 88,806,578 (GRCm38) |
|
noncoding transcript |
Het |
| Slc5a4b |
A |
G |
10: 76,062,239 (GRCm38) |
L547P |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,967,828 (GRCm38) |
S135P |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,742,233 (GRCm38) |
D591G |
probably benign |
Het |
| St5 |
C |
A |
7: 109,556,836 (GRCm38) |
E236* |
probably null |
Het |
| Stra6l |
G |
A |
4: 45,873,682 (GRCm38) |
V281M |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,834,408 (GRCm38) |
T818I |
possibly damaging |
Het |
| Syde1 |
A |
T |
10: 78,588,897 (GRCm38) |
V367D |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,376,883 (GRCm38) |
L932* |
probably null |
Het |
| Trpm7 |
G |
A |
2: 126,813,185 (GRCm38) |
L1278F |
possibly damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,541,065 (GRCm38) |
T116S |
probably damaging |
Het |
| Wfdc6b |
A |
G |
2: 164,617,294 (GRCm38) |
Q92R |
possibly damaging |
Het |
|
| Other mutations in Dip2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Dip2a
|
APN |
10 |
76,313,236 (GRCm38) |
missense |
probably benign |
|
|
IGL00849:Dip2a
|
APN |
10 |
76,292,318 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01685:Dip2a
|
APN |
10 |
76,327,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01825:Dip2a
|
APN |
10 |
76,272,680 (GRCm38) |
nonsense |
probably null |
|
|
IGL02343:Dip2a
|
APN |
10 |
76,319,478 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02437:Dip2a
|
APN |
10 |
76,298,267 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02981:Dip2a
|
APN |
10 |
76,276,421 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL03122:Dip2a
|
APN |
10 |
76,275,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03261:Dip2a
|
APN |
10 |
76,305,148 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0369:Dip2a
|
UTSW |
10 |
76,298,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0522:Dip2a
|
UTSW |
10 |
76,321,531 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0962:Dip2a
|
UTSW |
10 |
76,292,432 (GRCm38) |
unclassified |
probably benign |
|
|
R1164:Dip2a
|
UTSW |
10 |
76,276,397 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1309:Dip2a
|
UTSW |
10 |
76,279,776 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1426:Dip2a
|
UTSW |
10 |
76,279,820 (GRCm38) |
unclassified |
probably benign |
|
|
R1636:Dip2a
|
UTSW |
10 |
76,321,578 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1823:Dip2a
|
UTSW |
10 |
76,278,502 (GRCm38) |
nonsense |
probably null |
|
|
R1830:Dip2a
|
UTSW |
10 |
76,317,963 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1876:Dip2a
|
UTSW |
10 |
76,318,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2284:Dip2a
|
UTSW |
10 |
76,313,193 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2369:Dip2a
|
UTSW |
10 |
76,313,196 (GRCm38) |
missense |
probably benign |
|
|
R4050:Dip2a
|
UTSW |
10 |
76,278,607 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4089:Dip2a
|
UTSW |
10 |
76,278,489 (GRCm38) |
splice site |
probably null |
|
|
R4231:Dip2a
|
UTSW |
10 |
76,319,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4715:Dip2a
|
UTSW |
10 |
76,296,406 (GRCm38) |
missense |
probably benign |
0.34 |
|
R4752:Dip2a
|
UTSW |
10 |
76,276,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4849:Dip2a
|
UTSW |
10 |
76,294,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4892:Dip2a
|
UTSW |
10 |
76,280,759 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4998:Dip2a
|
UTSW |
10 |
76,319,556 (GRCm38) |
nonsense |
probably null |
|
|
R5068:Dip2a
|
UTSW |
10 |
76,318,043 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5141:Dip2a
|
UTSW |
10 |
76,270,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5253:Dip2a
|
UTSW |
10 |
76,299,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5304:Dip2a
|
UTSW |
10 |
76,294,523 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5324:Dip2a
|
UTSW |
10 |
76,296,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5369:Dip2a
|
UTSW |
10 |
76,292,360 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6272:Dip2a
|
UTSW |
10 |
76,286,407 (GRCm38) |
makesense |
probably null |
|
|
R6884:Dip2a
|
UTSW |
10 |
76,272,532 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7143:Dip2a
|
UTSW |
10 |
76,297,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7247:Dip2a
|
UTSW |
10 |
76,272,532 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7252:Dip2a
|
UTSW |
10 |
76,273,202 (GRCm38) |
missense |
not run |
|
|
R7327:Dip2a
|
UTSW |
10 |
76,272,562 (GRCm38) |
missense |
probably benign |
0.41 |
|
R7334:Dip2a
|
UTSW |
10 |
76,274,246 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7349:Dip2a
|
UTSW |
10 |
76,285,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7360:Dip2a
|
UTSW |
10 |
76,278,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7513:Dip2a
|
UTSW |
10 |
76,313,235 (GRCm38) |
missense |
probably benign |
|
|
R7793:Dip2a
|
UTSW |
10 |
76,278,583 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7794:Dip2a
|
UTSW |
10 |
76,276,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7819:Dip2a
|
UTSW |
10 |
76,291,028 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8079:Dip2a
|
UTSW |
10 |
76,287,321 (GRCm38) |
missense |
probably benign |
|
|
R8280:Dip2a
|
UTSW |
10 |
76,264,776 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R8281:Dip2a
|
UTSW |
10 |
76,276,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8286:Dip2a
|
UTSW |
10 |
76,286,463 (GRCm38) |
missense |
probably benign |
|
|
R8350:Dip2a
|
UTSW |
10 |
76,264,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8450:Dip2a
|
UTSW |
10 |
76,264,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8525:Dip2a
|
UTSW |
10 |
76,274,281 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8824:Dip2a
|
UTSW |
10 |
76,278,486 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8897:Dip2a
|
UTSW |
10 |
76,274,264 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9039:Dip2a
|
UTSW |
10 |
76,327,719 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9286:Dip2a
|
UTSW |
10 |
76,302,262 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9504:Dip2a
|
UTSW |
10 |
76,296,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9523:Dip2a
|
UTSW |
10 |
76,276,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9628:Dip2a
|
UTSW |
10 |
76,307,159 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9732:Dip2a
|
UTSW |
10 |
76,274,243 (GRCm38) |
missense |
probably benign |
0.11 |
|
Z1088:Dip2a
|
UTSW |
10 |
76,285,628 (GRCm38) |
missense |
probably benign |
0.06 |
|
Z1176:Dip2a
|
UTSW |
10 |
76,280,820 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1176:Dip2a
|
UTSW |
10 |
76,266,323 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
Z1177:Dip2a
|
UTSW |
10 |
76,296,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Dip2a
|
UTSW |
10 |
76,266,322 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATGCAAGCAATATGTGAG -3'
(R):5'- TGCACACTGTTTCAAATGGG -3'
Sequencing Primer
(F):5'- GTTCCAGGACATTCAGGGTTACAC -3'
(R):5'- CAAATGGGGCTTTTTATAATGGGAAC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation