Incidental Mutation 'R2392:Psd4'
| ID |
247786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd4
|
| Ensembl Gene |
ENSMUSG00000026979 |
| Gene Name |
pleckstrin and Sec7 domain containing 4 |
| Synonyms |
SEC7 homolog, EFA6B |
| MMRRC Submission |
040360-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24257571-24299882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24284679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 181
(P181Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056641]
[ENSMUST00000102942]
[ENSMUST00000127242]
[ENSMUST00000131930]
[ENSMUST00000140547]
[ENSMUST00000142522]
[ENSMUST00000166388]
|
| AlphaFold |
Q8BLR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056641
AA Change: P181Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062415
Gene: ENSMUSG00000026979
AA Change: P181Q
| 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 damaging
Transcript: ENSMUST00000102942
AA Change: P181Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100006
Gene: ENSMUSG00000026979
AA Change: P181Q
| 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: ENSMUST00000127242
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133730
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140547
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142522
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166388
AA Change: P181Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132395
Gene: ENSMUSG00000026979
AA Change: P181Q
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,297,264 (GRCm39) |
S2409T |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,958,458 (GRCm39) |
F120S |
probably damaging |
Het |
| Akr1c6 |
A |
G |
13: 4,484,477 (GRCm39) |
|
probably null |
Het |
| Bptf |
C |
A |
11: 106,963,573 (GRCm39) |
A1874S |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,856,173 (GRCm39) |
V244A |
probably damaging |
Het |
| Cenpe |
T |
G |
3: 134,953,874 (GRCm39) |
L1628R |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,860,873 (GRCm39) |
|
probably null |
Het |
| Chchd7 |
T |
A |
4: 3,943,381 (GRCm39) |
|
probably null |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crybg2 |
G |
T |
4: 133,799,925 (GRCm39) |
V362L |
probably benign |
Het |
| Ddx11 |
T |
A |
17: 66,456,968 (GRCm39) |
V791E |
probably damaging |
Het |
| Disp1 |
G |
A |
1: 182,868,731 (GRCm39) |
P1230S |
probably benign |
Het |
| Elp5 |
T |
C |
11: 69,865,928 (GRCm39) |
H116R |
probably benign |
Het |
| Epb42 |
T |
C |
2: 120,860,468 (GRCm39) |
E177G |
possibly damaging |
Het |
| F13a1 |
T |
A |
13: 37,127,971 (GRCm39) |
I336F |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,616,356 (GRCm39) |
M453T |
probably benign |
Het |
| Hacd2 |
A |
T |
16: 34,926,748 (GRCm39) |
E249V |
probably benign |
Het |
| Hnrnpf |
C |
A |
6: 117,901,829 (GRCm39) |
A371D |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,065,683 (GRCm39) |
T1703A |
probably damaging |
Het |
| Kcnj13 |
G |
A |
1: 87,314,622 (GRCm39) |
T200I |
possibly damaging |
Het |
| Kif1b |
G |
A |
4: 149,305,077 (GRCm39) |
T949M |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,123,031 (GRCm39) |
A552T |
possibly damaging |
Het |
| Krt74 |
A |
G |
15: 101,665,236 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap14 |
T |
A |
16: 88,622,597 (GRCm39) |
|
probably null |
Het |
| Lrrc45 |
A |
G |
11: 120,610,365 (GRCm39) |
N492S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,580 (GRCm39) |
N114K |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,915,164 (GRCm39) |
D375G |
possibly damaging |
Het |
| Mgat4a |
A |
G |
1: 37,537,785 (GRCm39) |
L44P |
probably damaging |
Het |
| Mttp |
A |
C |
3: 137,800,782 (GRCm39) |
D774E |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,116,521 (GRCm39) |
V1554A |
probably benign |
Het |
| Nes |
C |
T |
3: 87,883,250 (GRCm39) |
A503V |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,873,113 (GRCm39) |
|
probably null |
Het |
| Nr4a1 |
A |
G |
15: 101,172,075 (GRCm39) |
D583G |
possibly damaging |
Het |
| Or12d17 |
A |
G |
17: 37,777,310 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,797 (GRCm39) |
S239P |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,358,287 (GRCm39) |
L746I |
probably damaging |
Het |
| Ppp1r7 |
A |
T |
1: 93,282,063 (GRCm39) |
I205F |
probably benign |
Het |
| Ripor2 |
G |
A |
13: 24,890,206 (GRCm39) |
V694I |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,268 (GRCm39) |
S1185P |
possibly damaging |
Het |
| Sec23b |
T |
A |
2: 144,427,507 (GRCm39) |
|
probably null |
Het |
| Slfn2 |
A |
G |
11: 82,956,154 (GRCm39) |
N12S |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,076,248 (GRCm39) |
K38R |
possibly damaging |
Het |
| Smarca2 |
G |
T |
19: 26,618,050 (GRCm39) |
|
probably null |
Het |
| Taar4 |
A |
G |
10: 23,837,172 (GRCm39) |
T261A |
possibly damaging |
Het |
| Tbl2 |
A |
G |
5: 135,185,368 (GRCm39) |
D159G |
probably benign |
Het |
| Tmem120a |
T |
C |
5: 135,770,892 (GRCm39) |
E55G |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,037,794 (GRCm39) |
|
probably null |
Het |
| Vill |
A |
T |
9: 118,896,628 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,487,130 (GRCm39) |
M511K |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,110,516 (GRCm39) |
D543V |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,504,135 (GRCm39) |
T314A |
probably benign |
Het |
| Zbtb8b |
A |
G |
4: 129,326,982 (GRCm39) |
I61T |
probably damaging |
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 |
|
R1551:Psd4
|
UTSW |
2 |
24,293,292 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- TGGGGAGTCCACAGCAAAAC -3'
(R):5'- TGATGCCAGGTCTTCATGTC -3'
Sequencing Primer
(F):5'- CAGATGTGTGTCCTGGACC -3'
(R):5'- CCAGGTCTTCATGTCTGGGTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation