Incidental Mutation 'R1551:Psd4'
ID |
169894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd4
|
Ensembl Gene |
ENSMUSG00000026979 |
Gene Name |
pleckstrin and Sec7 domain containing 4 |
Synonyms |
SEC7 homolog, EFA6B |
MMRRC Submission |
039590-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1551 (G1)
|
Quality Score |
196 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
24257571-24299882 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24293292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 719
(M719K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056641]
[ENSMUST00000102942]
[ENSMUST00000140303]
[ENSMUST00000166388]
|
AlphaFold |
Q8BLR5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056641
AA Change: M719K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000062415 Gene: ENSMUSG00000026979 AA Change: M719K
Domain | Start | End | E-Value | Type |
low complexity region
|
156 |
176 |
N/A |
INTRINSIC |
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
low complexity region
|
420 |
438 |
N/A |
INTRINSIC |
low complexity region
|
458 |
474 |
N/A |
INTRINSIC |
Sec7
|
497 |
688 |
9.39e-47 |
SMART |
PH
|
727 |
843 |
1.1e-10 |
SMART |
low complexity region
|
883 |
893 |
N/A |
INTRINSIC |
low complexity region
|
897 |
920 |
N/A |
INTRINSIC |
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102942
AA Change: M719K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000100006 Gene: ENSMUSG00000026979 AA Change: M719K
Domain | Start | End | E-Value | Type |
low complexity region
|
156 |
176 |
N/A |
INTRINSIC |
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
low complexity region
|
420 |
438 |
N/A |
INTRINSIC |
low complexity region
|
458 |
474 |
N/A |
INTRINSIC |
Sec7
|
497 |
688 |
9.39e-47 |
SMART |
PH
|
727 |
843 |
1.1e-10 |
SMART |
low complexity region
|
883 |
893 |
N/A |
INTRINSIC |
low complexity region
|
897 |
920 |
N/A |
INTRINSIC |
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132924
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166388
AA Change: M719K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000132395 Gene: ENSMUSG00000026979 AA Change: M719K
Domain | Start | End | E-Value | Type |
low complexity region
|
156 |
176 |
N/A |
INTRINSIC |
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
low complexity region
|
420 |
438 |
N/A |
INTRINSIC |
low complexity region
|
458 |
474 |
N/A |
INTRINSIC |
Sec7
|
497 |
688 |
9.39e-47 |
SMART |
PH
|
727 |
843 |
1.1e-10 |
SMART |
low complexity region
|
883 |
893 |
N/A |
INTRINSIC |
low complexity region
|
897 |
920 |
N/A |
INTRINSIC |
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 83.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,918,101 (GRCm39) |
I1534M |
probably benign |
Het |
Acad11 |
G |
A |
9: 104,003,785 (GRCm39) |
A626T |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,119,174 (GRCm39) |
N3560K |
probably benign |
Het |
Aldh3a2 |
C |
T |
11: 61,144,470 (GRCm39) |
V363I |
probably benign |
Het |
Anks1b |
A |
G |
10: 89,912,843 (GRCm39) |
T289A |
probably benign |
Het |
Atp11a |
A |
G |
8: 12,862,340 (GRCm39) |
N64S |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,282,072 (GRCm39) |
|
probably null |
Het |
Cd101 |
T |
C |
3: 100,919,329 (GRCm39) |
H591R |
probably damaging |
Het |
Cd36 |
C |
T |
5: 18,002,120 (GRCm39) |
V294I |
probably benign |
Het |
Cfap47 |
C |
A |
X: 78,532,251 (GRCm39) |
L842F |
probably damaging |
Het |
Cgref1 |
T |
C |
5: 31,090,929 (GRCm39) |
E295G |
probably benign |
Het |
Cit |
A |
G |
5: 116,083,901 (GRCm39) |
M787V |
probably benign |
Het |
Clcn6 |
G |
A |
4: 148,097,235 (GRCm39) |
P611S |
possibly damaging |
Het |
Clec12a |
A |
C |
6: 129,327,384 (GRCm39) |
M1L |
probably damaging |
Het |
Cmtm6 |
C |
T |
9: 114,575,573 (GRCm39) |
R161W |
probably damaging |
Het |
Colec10 |
G |
T |
15: 54,325,658 (GRCm39) |
V163L |
probably damaging |
Het |
Coq8b |
A |
G |
7: 26,956,907 (GRCm39) |
Y520C |
probably damaging |
Het |
Ctsll3 |
C |
A |
13: 60,948,821 (GRCm39) |
E45* |
probably null |
Het |
Dsg3 |
A |
G |
18: 20,669,975 (GRCm39) |
E663G |
possibly damaging |
Het |
Dst |
G |
A |
1: 34,231,293 (GRCm39) |
R2962H |
probably benign |
Het |
Etnk2 |
T |
C |
1: 133,300,995 (GRCm39) |
I254T |
probably damaging |
Het |
Fbxo36 |
T |
C |
1: 84,858,835 (GRCm39) |
I40T |
probably damaging |
Het |
Fgd2 |
G |
A |
17: 29,597,383 (GRCm39) |
V568M |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,356,207 (GRCm39) |
Y883H |
possibly damaging |
Het |
Fpr-rs4 |
A |
T |
17: 18,242,589 (GRCm39) |
T199S |
possibly damaging |
Het |
Gm12789 |
A |
G |
4: 101,846,131 (GRCm39) |
K131E |
probably benign |
Het |
Gm17641 |
C |
A |
3: 68,777,448 (GRCm39) |
|
silent |
Het |
Gm6665 |
G |
T |
18: 31,953,340 (GRCm39) |
R43S |
probably damaging |
Het |
Gzmc |
T |
A |
14: 56,470,203 (GRCm39) |
H98L |
probably damaging |
Het |
Hecw1 |
T |
A |
13: 14,491,528 (GRCm39) |
E75V |
probably damaging |
Het |
Herc2 |
G |
T |
7: 55,796,417 (GRCm39) |
V1930L |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Htr6 |
A |
T |
4: 138,801,776 (GRCm39) |
C99* |
probably null |
Het |
Lgals2 |
C |
T |
15: 78,736,511 (GRCm39) |
M16I |
probably benign |
Het |
Lrrc8c |
A |
G |
5: 105,756,090 (GRCm39) |
N622D |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,383,791 (GRCm39) |
I1613F |
possibly damaging |
Het |
Oacyl |
C |
T |
18: 65,875,280 (GRCm39) |
R455C |
probably benign |
Het |
Or13c25 |
A |
T |
4: 52,911,397 (GRCm39) |
Y132* |
probably null |
Het |
Or5ac21 |
T |
A |
16: 59,123,766 (GRCm39) |
N84K |
probably benign |
Het |
Or5bh3 |
T |
C |
X: 49,098,872 (GRCm39) |
T81A |
possibly damaging |
Het |
Orm3 |
A |
G |
4: 63,275,146 (GRCm39) |
|
probably null |
Het |
Phf2 |
G |
C |
13: 48,985,579 (GRCm39) |
T67S |
unknown |
Het |
Phf2 |
A |
G |
13: 48,957,079 (GRCm39) |
L1096P |
probably damaging |
Het |
Pigt |
T |
C |
2: 164,349,323 (GRCm39) |
V542A |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,937,720 (GRCm39) |
F992L |
probably benign |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Pramel11 |
A |
G |
4: 143,622,263 (GRCm39) |
M364T |
probably benign |
Het |
Prmt7 |
A |
G |
8: 106,964,014 (GRCm39) |
T303A |
probably benign |
Het |
Prpf4b |
A |
T |
13: 35,078,426 (GRCm39) |
I679F |
possibly damaging |
Het |
Ranbp9 |
A |
T |
13: 43,578,593 (GRCm39) |
M160K |
probably benign |
Het |
Rfc1 |
A |
G |
5: 65,434,706 (GRCm39) |
Y687H |
probably damaging |
Het |
Rimbp2 |
T |
C |
5: 128,883,423 (GRCm39) |
K119R |
probably damaging |
Het |
Rnf113a1 |
T |
C |
X: 36,455,046 (GRCm39) |
M1T |
probably null |
Het |
Rnf40 |
A |
C |
7: 127,195,506 (GRCm39) |
K511Q |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,800,029 (GRCm39) |
|
probably null |
Het |
Scrib |
A |
T |
15: 75,937,011 (GRCm39) |
V365E |
probably damaging |
Het |
Slc6a17 |
A |
G |
3: 107,379,443 (GRCm39) |
V575A |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,067,732 (GRCm39) |
N2053S |
possibly damaging |
Het |
Ssbp2 |
G |
A |
13: 91,790,511 (GRCm39) |
|
probably null |
Het |
Stab1 |
G |
T |
14: 30,882,456 (GRCm39) |
N460K |
probably benign |
Het |
Tbc1d9 |
T |
A |
8: 83,992,787 (GRCm39) |
C964S |
probably benign |
Het |
Tmed11 |
A |
G |
5: 108,927,680 (GRCm39) |
|
probably null |
Het |
Tmem191 |
C |
A |
16: 17,095,984 (GRCm39) |
R285S |
probably damaging |
Het |
Tpr |
T |
C |
1: 150,312,552 (GRCm39) |
S1917P |
probably benign |
Het |
Vill |
A |
T |
9: 118,892,440 (GRCm39) |
H357L |
probably benign |
Het |
Vmn1r229 |
A |
G |
17: 21,035,051 (GRCm39) |
T99A |
probably benign |
Het |
Vmn2r14 |
A |
G |
5: 109,369,283 (GRCm39) |
S97P |
probably damaging |
Het |
Wasf2 |
G |
T |
4: 132,917,483 (GRCm39) |
R194L |
unknown |
Het |
|
Other mutations in Psd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00850:Psd4
|
APN |
2 |
24,284,298 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01302:Psd4
|
APN |
2 |
24,286,799 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01446:Psd4
|
APN |
2 |
24,295,407 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01577:Psd4
|
APN |
2 |
24,293,234 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01823:Psd4
|
APN |
2 |
24,284,444 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02103:Psd4
|
APN |
2 |
24,290,540 (GRCm39) |
nonsense |
probably null |
|
IGL02212:Psd4
|
APN |
2 |
24,295,326 (GRCm39) |
nonsense |
probably null |
|
IGL02240:Psd4
|
APN |
2 |
24,286,389 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02261:Psd4
|
APN |
2 |
24,291,756 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02345:Psd4
|
APN |
2 |
24,291,835 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03272:Psd4
|
APN |
2 |
24,295,692 (GRCm39) |
splice site |
probably benign |
|
bitcoin
|
UTSW |
2 |
24,291,569 (GRCm39) |
missense |
probably damaging |
1.00 |
crypto
|
UTSW |
2 |
24,287,259 (GRCm39) |
missense |
probably benign |
|
Ethereum
|
UTSW |
2 |
24,296,996 (GRCm39) |
missense |
probably damaging |
1.00 |
underworld
|
UTSW |
2 |
24,295,363 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4469001:Psd4
|
UTSW |
2 |
24,284,306 (GRCm39) |
missense |
probably benign |
0.08 |
R0131:Psd4
|
UTSW |
2 |
24,295,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Psd4
|
UTSW |
2 |
24,295,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0132:Psd4
|
UTSW |
2 |
24,295,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0278:Psd4
|
UTSW |
2 |
24,284,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R1303:Psd4
|
UTSW |
2 |
24,285,030 (GRCm39) |
missense |
probably benign |
0.00 |
R1715:Psd4
|
UTSW |
2 |
24,295,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R1854:Psd4
|
UTSW |
2 |
24,287,468 (GRCm39) |
missense |
probably benign |
0.26 |
R1942:Psd4
|
UTSW |
2 |
24,295,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R2392:Psd4
|
UTSW |
2 |
24,284,679 (GRCm39) |
missense |
probably damaging |
0.98 |
R2420:Psd4
|
UTSW |
2 |
24,291,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R4509:Psd4
|
UTSW |
2 |
24,286,347 (GRCm39) |
missense |
probably benign |
|
R4512:Psd4
|
UTSW |
2 |
24,292,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R4558:Psd4
|
UTSW |
2 |
24,294,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R4995:Psd4
|
UTSW |
2 |
24,287,259 (GRCm39) |
missense |
probably benign |
|
R5120:Psd4
|
UTSW |
2 |
24,295,450 (GRCm39) |
missense |
probably benign |
|
R5314:Psd4
|
UTSW |
2 |
24,290,528 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5563:Psd4
|
UTSW |
2 |
24,284,897 (GRCm39) |
missense |
probably benign |
|
R5638:Psd4
|
UTSW |
2 |
24,287,427 (GRCm39) |
missense |
probably benign |
0.14 |
R6191:Psd4
|
UTSW |
2 |
24,284,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R6224:Psd4
|
UTSW |
2 |
24,291,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R7024:Psd4
|
UTSW |
2 |
24,284,555 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7046:Psd4
|
UTSW |
2 |
24,284,985 (GRCm39) |
missense |
probably benign |
0.05 |
R7209:Psd4
|
UTSW |
2 |
24,287,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Psd4
|
UTSW |
2 |
24,294,768 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7498:Psd4
|
UTSW |
2 |
24,296,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R7571:Psd4
|
UTSW |
2 |
24,297,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R7741:Psd4
|
UTSW |
2 |
24,291,108 (GRCm39) |
critical splice donor site |
probably null |
|
R7978:Psd4
|
UTSW |
2 |
24,294,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R8133:Psd4
|
UTSW |
2 |
24,286,701 (GRCm39) |
missense |
probably benign |
|
R8254:Psd4
|
UTSW |
2 |
24,293,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R8786:Psd4
|
UTSW |
2 |
24,295,444 (GRCm39) |
missense |
probably benign |
0.08 |
R8797:Psd4
|
UTSW |
2 |
24,287,440 (GRCm39) |
missense |
probably benign |
0.02 |
R9015:Psd4
|
UTSW |
2 |
24,287,492 (GRCm39) |
missense |
|
|
R9413:Psd4
|
UTSW |
2 |
24,287,472 (GRCm39) |
missense |
probably benign |
0.39 |
X0009:Psd4
|
UTSW |
2 |
24,291,537 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Psd4
|
UTSW |
2 |
24,294,750 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Psd4
|
UTSW |
2 |
24,284,943 (GRCm39) |
frame shift |
probably null |
|
Z1177:Psd4
|
UTSW |
2 |
24,284,924 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCGCAGTGAGAAGCTCGAATG -3'
(R):5'- TCCAGGAAAGAAACACAGGTTGCTC -3'
Sequencing Primer
(F):5'- AGGGGTCTACATAGTTCTGCATC -3'
(R):5'- GAAACACAGGTTGCTCGTTCTTC -3'
|
Posted On |
2014-04-13 |