Incidental Mutation 'R5017:Gdpd4'
ID |
385615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gdpd4
|
Ensembl Gene |
ENSMUSG00000035582 |
Gene Name |
glycerophosphodiester phosphodiesterase domain containing 4 |
Synonyms |
|
MMRRC Submission |
042608-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R5017 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
97569162-97698870 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 97653482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 498
(Y498*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041860]
[ENSMUST00000170049]
|
AlphaFold |
Q3TT99 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041860
AA Change: Y498*
|
SMART Domains |
Protein: ENSMUSP00000036772 Gene: ENSMUSG00000035582 AA Change: Y498*
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 null
Transcript: ENSMUST00000170049
AA Change: Y498*
|
SMART Domains |
Protein: ENSMUSP00000131960 Gene: ENSMUSG00000035582 AA Change: Y498*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 87.9%
|
Validation Efficiency |
96% (46/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
T |
C |
14: 68,810,694 (GRCm39) |
D154G |
probably benign |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Arhgef3 |
G |
T |
14: 26,987,487 (GRCm39) |
R20L |
possibly damaging |
Het |
Birc2 |
A |
T |
9: 7,818,886 (GRCm39) |
C568* |
probably null |
Het |
Bltp3a |
T |
A |
17: 28,113,713 (GRCm39) |
L1295* |
probably null |
Het |
Cep44 |
A |
G |
8: 56,997,242 (GRCm39) |
S99P |
possibly damaging |
Het |
Clstn2 |
A |
G |
9: 97,365,139 (GRCm39) |
W456R |
probably damaging |
Het |
Cog5 |
T |
A |
12: 31,970,604 (GRCm39) |
S783T |
probably benign |
Het |
Endod1 |
G |
A |
9: 14,268,187 (GRCm39) |
R433* |
probably null |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
Hapln2 |
A |
G |
3: 87,931,308 (GRCm39) |
V69A |
probably damaging |
Het |
Ifit3 |
A |
C |
19: 34,564,592 (GRCm39) |
N46T |
possibly damaging |
Het |
Kcnh8 |
T |
C |
17: 53,200,958 (GRCm39) |
L464S |
probably damaging |
Het |
Lrrc9 |
C |
A |
12: 72,553,099 (GRCm39) |
R1334S |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,345,906 (GRCm39) |
F2631L |
probably damaging |
Het |
Mafa |
T |
C |
15: 75,619,338 (GRCm39) |
H145R |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,226,795 (GRCm39) |
T1411A |
probably benign |
Het |
Nos3 |
A |
G |
5: 24,571,717 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,807,484 (GRCm39) |
|
probably benign |
Het |
Or10g6 |
A |
T |
9: 39,933,672 (GRCm39) |
|
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,622,821 (GRCm39) |
Y251* |
probably null |
Het |
Or8g20 |
A |
T |
9: 39,396,051 (GRCm39) |
M166K |
possibly damaging |
Het |
Pde11a |
A |
T |
2: 75,966,711 (GRCm39) |
D579E |
probably benign |
Het |
Phkb |
A |
T |
8: 86,776,438 (GRCm39) |
H954L |
probably benign |
Het |
Phldb3 |
C |
T |
7: 24,319,521 (GRCm39) |
T353M |
probably damaging |
Het |
Pigu |
A |
T |
2: 155,141,128 (GRCm39) |
|
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,353,104 (GRCm39) |
|
probably null |
Het |
Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
C |
A |
18: 78,899,809 (GRCm39) |
G1286V |
possibly damaging |
Het |
Siglecg |
T |
A |
7: 43,060,810 (GRCm39) |
|
probably benign |
Het |
Slc25a46 |
A |
T |
18: 31,738,836 (GRCm39) |
H118Q |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,132,510 (GRCm39) |
F167I |
unknown |
Het |
Sycp1 |
A |
T |
3: 102,803,303 (GRCm39) |
|
probably null |
Het |
Tmem132c |
A |
G |
5: 127,640,414 (GRCm39) |
T862A |
probably benign |
Het |
Tmem256 |
T |
C |
11: 69,729,818 (GRCm39) |
|
probably benign |
Het |
Tpr |
A |
T |
1: 150,274,388 (GRCm39) |
E98D |
probably benign |
Het |
Trdn |
A |
G |
10: 33,344,155 (GRCm39) |
D623G |
probably benign |
Het |
Trip11 |
T |
C |
12: 101,812,879 (GRCm39) |
N1485S |
probably benign |
Het |
Trpm1 |
T |
C |
7: 63,894,580 (GRCm39) |
|
probably benign |
Het |
Vmn1r227 |
T |
C |
17: 20,956,340 (GRCm39) |
|
noncoding transcript |
Het |
Xpo6 |
G |
A |
7: 125,703,919 (GRCm39) |
A21V |
probably benign |
Het |
Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
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 |
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 |
R6884:Gdpd4
|
UTSW |
7 |
97,621,382 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ATTCGGTCTCAGCGAATCGG -3'
(R):5'- AGGCACATTTCCATTACTCACAGATC -3'
Sequencing Primer
(F):5'- AGCGAATCGGAAGCTGTCTTTTG -3'
(R):5'- AGATCTCTGTATTCTGACGTAGC -3'
|
Posted On |
2016-05-10 |