Incidental Mutation 'T0975:Dlgap1'
ID |
67740 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dlgap1
|
Ensembl Gene |
ENSMUSG00000003279 |
Gene Name |
DLG associated protein 1 |
Synonyms |
Sapap1, Gkap, GKAP/SAPAP, SAPAP1, D17Bwg0511e, DAP-1 beta, 4933422O14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
T0975 (G3)
of strain
714
|
Quality Score |
211 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70823950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 312
(S312P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000146730]
[ENSMUST00000155016]
|
AlphaFold |
Q9D415 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060072
AA Change: S312P
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000052858 Gene: ENSMUSG00000003279 AA Change: S312P
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
low complexity region
|
515 |
539 |
N/A |
INTRINSIC |
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
Pfam:GKAP
|
643 |
982 |
6.8e-139 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130971
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133983
AA Change: S312P
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116716 Gene: ENSMUSG00000003279 AA Change: S312P
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
low complexity region
|
515 |
539 |
N/A |
INTRINSIC |
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
Pfam:GKAP
|
643 |
982 |
6.8e-139 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135938
AA Change: S312P
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000118497 Gene: ENSMUSG00000003279 AA Change: S312P
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
low complexity region
|
610 |
624 |
N/A |
INTRINSIC |
Pfam:GKAP
|
625 |
964 |
9.3e-139 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146730
AA Change: S312P
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116072 Gene: ENSMUSG00000003279 AA Change: S312P
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
low complexity region
|
552 |
569 |
N/A |
INTRINSIC |
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
Pfam:GKAP
|
653 |
933 |
9.5e-106 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150798
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155016
AA Change: S312P
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122896 Gene: ENSMUSG00000003279 AA Change: S312P
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
low complexity region
|
552 |
569 |
N/A |
INTRINSIC |
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
Pfam:GKAP
|
660 |
992 |
2e-153 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
TAA |
TAAA |
11: 3,887,945 (GRCm39) |
|
probably null |
Het |
4930556J24Rik |
C |
T |
11: 3,926,324 (GRCm39) |
A27T |
unknown |
Het |
Ago3 |
C |
T |
4: 126,298,056 (GRCm39) |
V155I |
probably benign |
Het |
Ago3 |
G |
A |
4: 126,298,103 (GRCm39) |
A139V |
probably benign |
Het |
Ago3 |
C |
T |
4: 126,298,098 (GRCm39) |
A141T |
probably benign |
Het |
Ahdc1 |
ACCTCCT |
ACCTCCTCCT |
4: 132,790,065 (GRCm39) |
|
probably benign |
Het |
Azin2 |
A |
G |
4: 128,839,927 (GRCm39) |
Y222H |
probably benign |
Het |
Bpifb5 |
C |
A |
2: 154,071,384 (GRCm39) |
|
probably null |
Het |
Castor1 |
G |
C |
11: 4,170,445 (GRCm39) |
G147A |
probably benign |
Het |
Ccdc157 |
C |
T |
11: 4,096,246 (GRCm39) |
A455T |
probably damaging |
Het |
Ccng1 |
A |
C |
11: 40,644,871 (GRCm39) |
S9A |
probably benign |
Het |
Cfh |
T |
C |
1: 140,082,336 (GRCm39) |
T164A |
probably benign |
Het |
Cherp |
TTGGACCTGGACCTGGACCTGGACCTGGA |
TTGGACCTGGACCTGGACCTGGA |
8: 73,215,878 (GRCm39) |
|
probably benign |
Het |
Chrng |
T |
C |
1: 87,138,348 (GRCm39) |
S380P |
probably benign |
Het |
Clspn |
ACGGCGGCGGCGGCG |
ACGGCGGCGGCGGCGGCGGCG |
4: 126,460,230 (GRCm39) |
|
probably benign |
Het |
Ctrc |
T |
TA |
4: 141,572,507 (GRCm39) |
|
probably null |
Het |
Cxxc1 |
C |
T |
18: 74,353,992 (GRCm39) |
R593C |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,840,130 (GRCm39) |
S1255G |
probably benign |
Het |
Dpep1 |
A |
T |
8: 123,927,727 (GRCm39) |
S388C |
probably damaging |
Het |
Emid1 |
T |
C |
11: 5,094,386 (GRCm39) |
T42A |
probably damaging |
Het |
Emid1 |
A |
C |
11: 5,078,884 (GRCm39) |
L353V |
probably benign |
Het |
Epn3 |
A |
G |
11: 94,382,733 (GRCm39) |
|
probably null |
Het |
Fam124b |
T |
C |
1: 80,190,843 (GRCm39) |
E180G |
probably benign |
Het |
Fam135b |
T |
G |
15: 71,335,734 (GRCm39) |
T487P |
probably damaging |
Het |
Gja4 |
G |
C |
4: 127,206,024 (GRCm39) |
H246Q |
probably benign |
Het |
Gm9972 |
GA |
GAA |
11: 42,927,597 (GRCm39) |
|
probably null |
Het |
Hmmr |
G |
C |
11: 40,614,243 (GRCm39) |
N148K |
probably damaging |
Het |
Homez |
C |
T |
14: 55,094,796 (GRCm39) |
R304K |
possibly damaging |
Het |
Ifngr1 |
G |
A |
10: 19,485,221 (GRCm39) |
V407M |
probably damaging |
Het |
Inpp5j |
G |
T |
11: 3,452,527 (GRCm39) |
T241N |
possibly damaging |
Het |
Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
Kremen1 |
C |
T |
11: 5,145,105 (GRCm39) |
A424T |
probably benign |
Het |
Mat2b |
G |
A |
11: 40,570,918 (GRCm39) |
T302I |
probably benign |
Het |
Mtmr3 |
C |
T |
11: 4,438,441 (GRCm39) |
R671K |
probably benign |
Het |
Nacad |
A |
G |
11: 6,551,632 (GRCm39) |
C520R |
probably benign |
Het |
Nacad |
GCAGGGTCAGGGTC |
GCAGGGTCAGGGTCAGGGTC |
11: 6,549,750 (GRCm39) |
|
probably benign |
Het |
Nacad |
T |
C |
11: 6,551,622 (GRCm39) |
N523S |
probably benign |
Het |
Nefh |
G |
A |
11: 4,890,151 (GRCm39) |
P823S |
probably benign |
Het |
Nfrkb |
G |
C |
9: 31,308,379 (GRCm39) |
A230P |
probably benign |
Het |
Nlrp4a |
A |
G |
7: 26,149,062 (GRCm39) |
E223G |
probably damaging |
Het |
Notch3 |
T |
A |
17: 32,365,391 (GRCm39) |
Y1107F |
probably damaging |
Het |
Or10ak9 |
G |
T |
4: 118,726,500 (GRCm39) |
R174M |
probably benign |
Het |
Or13g1 |
A |
T |
7: 85,955,492 (GRCm39) |
Y276* |
probably null |
Het |
Or6c35 |
A |
G |
10: 129,169,314 (GRCm39) |
D188G |
probably benign |
Het |
Osm |
A |
G |
11: 4,189,588 (GRCm39) |
D124G |
probably benign |
Het |
Plekhm2 |
TTCCTCCTCCT |
TTCCTCCT |
4: 141,359,292 (GRCm39) |
|
probably benign |
Het |
Pomgnt1 |
C |
T |
4: 115,994,624 (GRCm39) |
|
probably benign |
Het |
Spen |
A |
G |
4: 141,201,664 (GRCm39) |
V2321A |
probably benign |
Het |
Sytl1 |
TCTGC |
TC |
4: 132,984,305 (GRCm39) |
|
probably benign |
Het |
Tcn2 |
G |
C |
11: 3,873,487 (GRCm39) |
F286L |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,560,712 (GRCm39) |
S10P |
probably benign |
Het |
Tmprss7 |
C |
T |
16: 45,501,096 (GRCm39) |
R235Q |
probably benign |
Het |
Tns3 |
G |
A |
11: 8,499,100 (GRCm39) |
|
probably benign |
Het |
Tns3 |
G |
T |
11: 8,401,146 (GRCm39) |
L1051M |
probably benign |
Het |
Tns3 |
T |
G |
11: 8,429,518 (GRCm39) |
E806A |
probably benign |
Het |
Toe1 |
T |
C |
4: 116,663,290 (GRCm39) |
I62M |
probably benign |
Het |
Txnrd2 |
A |
G |
16: 18,294,315 (GRCm39) |
H436R |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,179,092 (GRCm39) |
P2001S |
probably damaging |
Het |
Vmn2r23 |
T |
A |
6: 123,690,120 (GRCm39) |
M332K |
probably benign |
Het |
Zbtb8a |
GG |
GGATG |
4: 129,253,812 (GRCm39) |
|
probably benign |
Het |
Zbtb8a |
T |
C |
4: 129,254,005 (GRCm39) |
H163R |
probably benign |
Het |
Zfyve21 |
A |
G |
12: 111,794,067 (GRCm39) |
D206G |
probably damaging |
Het |
Zkscan4 |
AGAGGAG |
AGAG |
13: 21,663,370 (GRCm39) |
|
probably benign |
Het |
Zmym1 |
A |
C |
4: 126,943,466 (GRCm39) |
H307Q |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,941,740 (GRCm39) |
D785N |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,942,043 (GRCm39) |
V684I |
probably benign |
Het |
Zpld2 |
GTG |
GTGCTG |
4: 133,929,940 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dlgap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Dlgap1
|
APN |
17 |
70,823,080 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01413:Dlgap1
|
APN |
17 |
70,823,069 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01531:Dlgap1
|
APN |
17 |
70,823,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02226:Dlgap1
|
APN |
17 |
70,823,029 (GRCm39) |
missense |
probably damaging |
1.00 |
BB009:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
BB019:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R0453:Dlgap1
|
UTSW |
17 |
71,068,341 (GRCm39) |
missense |
probably benign |
0.03 |
R0482:Dlgap1
|
UTSW |
17 |
70,823,185 (GRCm39) |
missense |
probably benign |
0.11 |
R0520:Dlgap1
|
UTSW |
17 |
70,823,989 (GRCm39) |
nonsense |
probably null |
|
R1951:Dlgap1
|
UTSW |
17 |
71,068,306 (GRCm39) |
missense |
probably damaging |
0.96 |
R2072:Dlgap1
|
UTSW |
17 |
70,969,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R2076:Dlgap1
|
UTSW |
17 |
71,093,826 (GRCm39) |
nonsense |
probably null |
|
R3438:Dlgap1
|
UTSW |
17 |
70,823,356 (GRCm39) |
missense |
probably damaging |
0.97 |
R3743:Dlgap1
|
UTSW |
17 |
71,025,221 (GRCm39) |
critical splice donor site |
probably null |
|
R3881:Dlgap1
|
UTSW |
17 |
71,093,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R3981:Dlgap1
|
UTSW |
17 |
70,823,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R4043:Dlgap1
|
UTSW |
17 |
71,068,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R4272:Dlgap1
|
UTSW |
17 |
71,073,038 (GRCm39) |
missense |
probably benign |
|
R4273:Dlgap1
|
UTSW |
17 |
71,073,038 (GRCm39) |
missense |
probably benign |
|
R4557:Dlgap1
|
UTSW |
17 |
70,823,684 (GRCm39) |
missense |
probably benign |
0.01 |
R4652:Dlgap1
|
UTSW |
17 |
71,068,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Dlgap1
|
UTSW |
17 |
70,900,375 (GRCm39) |
nonsense |
probably null |
|
R5000:Dlgap1
|
UTSW |
17 |
71,073,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Dlgap1
|
UTSW |
17 |
71,025,222 (GRCm39) |
critical splice donor site |
probably null |
|
R5291:Dlgap1
|
UTSW |
17 |
71,025,205 (GRCm39) |
missense |
probably benign |
0.03 |
R5304:Dlgap1
|
UTSW |
17 |
71,122,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5473:Dlgap1
|
UTSW |
17 |
70,824,025 (GRCm39) |
intron |
probably benign |
|
R5522:Dlgap1
|
UTSW |
17 |
70,823,993 (GRCm39) |
critical splice donor site |
probably null |
|
R5586:Dlgap1
|
UTSW |
17 |
71,125,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R5742:Dlgap1
|
UTSW |
17 |
71,025,194 (GRCm39) |
missense |
probably benign |
|
R5802:Dlgap1
|
UTSW |
17 |
71,073,086 (GRCm39) |
critical splice donor site |
probably null |
|
R5850:Dlgap1
|
UTSW |
17 |
71,094,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R5857:Dlgap1
|
UTSW |
17 |
71,122,388 (GRCm39) |
intron |
probably benign |
|
R5883:Dlgap1
|
UTSW |
17 |
70,824,008 (GRCm39) |
intron |
probably benign |
|
R6045:Dlgap1
|
UTSW |
17 |
71,125,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R6336:Dlgap1
|
UTSW |
17 |
71,122,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R6448:Dlgap1
|
UTSW |
17 |
70,900,325 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6682:Dlgap1
|
UTSW |
17 |
71,094,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R6795:Dlgap1
|
UTSW |
17 |
71,125,069 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7147:Dlgap1
|
UTSW |
17 |
70,969,753 (GRCm39) |
missense |
probably benign |
0.00 |
R7187:Dlgap1
|
UTSW |
17 |
70,823,093 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7382:Dlgap1
|
UTSW |
17 |
71,094,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R7859:Dlgap1
|
UTSW |
17 |
70,823,683 (GRCm39) |
missense |
probably benign |
|
R7932:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R8477:Dlgap1
|
UTSW |
17 |
70,823,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R8673:Dlgap1
|
UTSW |
17 |
71,122,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R8866:Dlgap1
|
UTSW |
17 |
70,823,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R8910:Dlgap1
|
UTSW |
17 |
71,093,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Dlgap1
|
UTSW |
17 |
70,823,528 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9012:Dlgap1
|
UTSW |
17 |
70,823,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9035:Dlgap1
|
UTSW |
17 |
70,823,855 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9067:Dlgap1
|
UTSW |
17 |
71,116,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R9361:Dlgap1
|
UTSW |
17 |
71,068,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R9464:Dlgap1
|
UTSW |
17 |
70,823,964 (GRCm39) |
missense |
probably benign |
0.11 |
R9550:Dlgap1
|
UTSW |
17 |
71,093,902 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9564:Dlgap1
|
UTSW |
17 |
70,964,458 (GRCm39) |
missense |
probably benign |
0.02 |
R9565:Dlgap1
|
UTSW |
17 |
70,964,458 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Dlgap1
|
UTSW |
17 |
71,122,204 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Dlgap1
|
UTSW |
17 |
70,969,738 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTCCCGGAGTAACAATGACATC -3'
(R):5'- CAGGCTGGAGATTAATTACCGCCAC -3'
Sequencing Primer
(F):5'- TGACATCAAGTGCTCCACCTG -3'
(R):5'- AAGTTGCTAGACGATGTCTCC -3'
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Posted On |
2013-09-03 |