Incidental Mutation 'R6884:Gdpd4'
| ID |
536841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdpd4
|
| Ensembl Gene |
ENSMUSG00000035582 |
| Gene Name |
glycerophosphodiester phosphodiesterase domain containing 4 |
| Synonyms |
|
| MMRRC Submission |
044979-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6884 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
97569162-97698870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97621382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 208
(L208F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041860]
[ENSMUST00000170049]
|
| AlphaFold |
Q3TT99 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041860
AA Change: L208F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036772
Gene: ENSMUSG00000035582
AA Change: L208F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
65 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
135 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
168 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
281 |
440 |
1.4e-19 |
PFAM |
|
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170049
AA Change: L208F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131960
Gene: ENSMUSG00000035582
AA Change: L208F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
65 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
135 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
168 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
281 |
439 |
3.4e-21 |
PFAM |
|
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,407 (GRCm39) |
|
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,220,043 (GRCm39) |
V8M |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,863 (GRCm39) |
D736E |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,050,324 (GRCm39) |
D1072G |
probably benign |
Het |
| Cacna1i |
C |
T |
15: 80,259,010 (GRCm39) |
R1240C |
probably damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,133,565 (GRCm39) |
E568D |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,547,091 (GRCm39) |
G2247E |
possibly damaging |
Het |
| Dapk3 |
T |
A |
10: 81,027,588 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
T |
C |
15: 38,986,635 (GRCm39) |
W136R |
probably damaging |
Het |
| Dip2a |
C |
A |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
| Eif3c |
T |
C |
7: 126,156,051 (GRCm39) |
D473G |
probably benign |
Het |
| Erich2 |
G |
A |
2: 70,339,505 (GRCm39) |
R20H |
possibly damaging |
Het |
| Gcnt7 |
T |
C |
2: 172,296,125 (GRCm39) |
N233S |
probably damaging |
Het |
| Gm10269 |
T |
A |
18: 20,815,932 (GRCm39) |
Q30L |
possibly damaging |
Het |
| Gm7298 |
A |
T |
6: 121,737,480 (GRCm39) |
I295F |
possibly damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,779 (GRCm39) |
|
probably null |
Het |
| Ing1 |
A |
G |
8: 11,611,916 (GRCm39) |
Y118C |
probably damaging |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,284 (GRCm39) |
W40* |
probably null |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,467 (GRCm39) |
D51E |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,986 (GRCm39) |
Q2513L |
probably benign |
Het |
| Morf4l1 |
A |
T |
9: 89,976,532 (GRCm39) |
N265K |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,952,904 (GRCm39) |
D299G |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,745,197 (GRCm39) |
G55R |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,028,431 (GRCm39) |
K144I |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,709,875 (GRCm39) |
I587T |
possibly damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,135,374 (GRCm39) |
S288G |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,969,128 (GRCm39) |
Y2700H |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,345 (GRCm39) |
V247A |
probably benign |
Het |
| Or6c3 |
T |
A |
10: 129,309,023 (GRCm39) |
F154Y |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,536,574 (GRCm39) |
D90G |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,022,627 (GRCm39) |
F315L |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Ret |
T |
C |
6: 118,132,362 (GRCm39) |
D1026G |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,096 (GRCm39) |
Q143L |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,272,910 (GRCm39) |
E210G |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,698,712 (GRCm39) |
T46S |
probably benign |
Het |
| Serpinb9e |
A |
T |
13: 33,435,609 (GRCm39) |
H14L |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,059,652 (GRCm39) |
S1003P |
possibly damaging |
Het |
| Slc25a25 |
A |
C |
2: 32,310,674 (GRCm39) |
V168G |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,238,726 (GRCm39) |
T261A |
possibly damaging |
Het |
| Spocd1 |
T |
C |
4: 129,849,197 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,995,514 (GRCm39) |
Y178N |
probably damaging |
Het |
| Top1mt |
C |
T |
15: 75,535,893 (GRCm39) |
E470K |
probably benign |
Het |
| Traj42 |
T |
C |
14: 54,413,290 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
C |
12: 91,504,876 (GRCm39) |
Y13H |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,566,461 (GRCm39) |
|
probably null |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,633 (GRCm39) |
V159I |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,213 (GRCm39) |
T700S |
probably benign |
Het |
|
| Other mutations in Gdpd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Gdpd4
|
APN |
7 |
97,653,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01292:Gdpd4
|
APN |
7 |
97,664,161 (GRCm39) |
splice site |
probably benign |
|
|
IGL01317:Gdpd4
|
APN |
7 |
97,647,465 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02678:Gdpd4
|
APN |
7 |
97,623,584 (GRCm39) |
splice site |
probably benign |
|
|
IGL02822:Gdpd4
|
APN |
7 |
97,621,131 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02987:Gdpd4
|
APN |
7 |
97,610,758 (GRCm39) |
splice site |
probably benign |
|
|
R0022:Gdpd4
|
UTSW |
7 |
97,632,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0331:Gdpd4
|
UTSW |
7 |
97,622,215 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0882:Gdpd4
|
UTSW |
7 |
97,615,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1425:Gdpd4
|
UTSW |
7 |
97,623,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1469:Gdpd4
|
UTSW |
7 |
97,623,673 (GRCm39) |
splice site |
probably null |
|
|
R1469:Gdpd4
|
UTSW |
7 |
97,623,673 (GRCm39) |
splice site |
probably null |
|
|
R1870:Gdpd4
|
UTSW |
7 |
97,622,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4747:Gdpd4
|
UTSW |
7 |
97,610,840 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5017:Gdpd4
|
UTSW |
7 |
97,653,482 (GRCm39) |
nonsense |
probably null |
|
|
R5208:Gdpd4
|
UTSW |
7 |
97,664,118 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5290:Gdpd4
|
UTSW |
7 |
97,615,543 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5398:Gdpd4
|
UTSW |
7 |
97,621,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5605:Gdpd4
|
UTSW |
7 |
97,655,507 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5715:Gdpd4
|
UTSW |
7 |
97,610,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5990:Gdpd4
|
UTSW |
7 |
97,690,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6269:Gdpd4
|
UTSW |
7 |
97,623,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Gdpd4
|
UTSW |
7 |
97,623,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6817:Gdpd4
|
UTSW |
7 |
97,607,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7054:Gdpd4
|
UTSW |
7 |
97,623,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7575:Gdpd4
|
UTSW |
7 |
97,647,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7582:Gdpd4
|
UTSW |
7 |
97,607,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7694:Gdpd4
|
UTSW |
7 |
97,621,146 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7867:Gdpd4
|
UTSW |
7 |
97,623,185 (GRCm39) |
nonsense |
probably null |
|
|
R8145:Gdpd4
|
UTSW |
7 |
97,690,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8169:Gdpd4
|
UTSW |
7 |
97,621,335 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8692:Gdpd4
|
UTSW |
7 |
97,690,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9211:Gdpd4
|
UTSW |
7 |
97,615,466 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9286:Gdpd4
|
UTSW |
7 |
97,647,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Gdpd4
|
UTSW |
7 |
97,607,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9529:Gdpd4
|
UTSW |
7 |
97,610,793 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9563:Gdpd4
|
UTSW |
7 |
97,649,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Gdpd4
|
UTSW |
7 |
97,615,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGTCACTGCAGGTAAGC -3'
(R):5'- TGCCCCAGATAAATGGTGTGC -3'
Sequencing Primer
(F):5'- CTGCAGGTAAGCATCGCTCTATAG -3'
(R):5'- GCCCCAGATAAATGGTGTGCATTAAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation