Incidental Mutation 'IGL02186:Srbd1'
ID |
283640 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Srbd1
|
Ensembl Gene |
ENSMUSG00000024135 |
Gene Name |
S1 RNA binding domain 1 |
Synonyms |
D530025C17Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
IGL02186
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
86292093-86452603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86416659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 500
(F500L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092810
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095187]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095187
AA Change: F500L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092810 Gene: ENSMUSG00000024135 AA Change: F500L
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
low complexity region
|
104 |
128 |
N/A |
INTRINSIC |
Pfam:Tex_N
|
213 |
403 |
2.8e-43 |
PFAM |
YqgFc
|
532 |
631 |
4.1e-32 |
SMART |
Pfam:HHH_7
|
668 |
764 |
1.6e-6 |
PFAM |
Pfam:HHH_3
|
698 |
762 |
4.2e-25 |
PFAM |
S1
|
903 |
978 |
7e-15 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130230L23Rik |
A |
G |
5: 66,145,811 (GRCm39) |
F100S |
unknown |
Het |
Abca3 |
A |
G |
17: 24,596,714 (GRCm39) |
Y389C |
possibly damaging |
Het |
Acrbp |
G |
T |
6: 125,031,773 (GRCm39) |
|
probably null |
Het |
Adam21 |
G |
A |
12: 81,605,983 (GRCm39) |
T593I |
possibly damaging |
Het |
Adipor1 |
T |
A |
1: 134,353,698 (GRCm39) |
M161K |
probably benign |
Het |
Agrp |
A |
T |
8: 106,293,821 (GRCm39) |
N48K |
probably benign |
Het |
Asprv1 |
A |
T |
6: 86,605,900 (GRCm39) |
M249L |
probably damaging |
Het |
Begain |
A |
G |
12: 108,999,278 (GRCm39) |
Y703H |
probably damaging |
Het |
Bspry |
T |
A |
4: 62,414,226 (GRCm39) |
|
probably benign |
Het |
Cct8l1 |
T |
G |
5: 25,721,836 (GRCm39) |
S184A |
probably benign |
Het |
Cdk13 |
C |
T |
13: 17,947,112 (GRCm39) |
V549I |
probably benign |
Het |
Cdyl2 |
C |
T |
8: 117,306,025 (GRCm39) |
R412Q |
possibly damaging |
Het |
Celf6 |
T |
C |
9: 59,510,808 (GRCm39) |
S205P |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,595,811 (GRCm39) |
A1263V |
possibly damaging |
Het |
Cltc |
C |
A |
11: 86,595,812 (GRCm39) |
A1263S |
possibly damaging |
Het |
Ctnnd2 |
T |
A |
15: 30,480,939 (GRCm39) |
F62L |
probably damaging |
Het |
Dlec1 |
T |
A |
9: 118,972,695 (GRCm39) |
C1473S |
probably benign |
Het |
Dmbt1 |
T |
A |
7: 130,694,986 (GRCm39) |
|
probably benign |
Het |
Dnase1 |
G |
A |
16: 3,856,896 (GRCm39) |
V176I |
probably benign |
Het |
Dusp1 |
G |
T |
17: 26,726,032 (GRCm39) |
Y220* |
probably null |
Het |
Enpp3 |
A |
C |
10: 24,667,881 (GRCm39) |
|
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,649,755 (GRCm39) |
L395P |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,677,693 (GRCm39) |
K533R |
probably damaging |
Het |
Gcm2 |
T |
A |
13: 41,258,125 (GRCm39) |
T168S |
possibly damaging |
Het |
Gm9924 |
C |
A |
5: 31,252,491 (GRCm39) |
|
probably benign |
Het |
Ifrd1 |
A |
G |
12: 40,264,092 (GRCm39) |
V101A |
probably benign |
Het |
Iqsec1 |
G |
T |
6: 90,653,859 (GRCm39) |
Q629K |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,576,881 (GRCm39) |
M254L |
probably benign |
Het |
Krit1 |
T |
C |
5: 3,859,733 (GRCm39) |
|
probably benign |
Het |
Letm1 |
T |
C |
5: 33,902,391 (GRCm39) |
K633E |
probably benign |
Het |
Mfsd1 |
A |
G |
3: 67,503,928 (GRCm39) |
I307V |
probably benign |
Het |
Mtrr |
T |
C |
13: 68,712,476 (GRCm39) |
T637A |
probably benign |
Het |
Naxe |
C |
A |
3: 87,964,305 (GRCm39) |
D212Y |
probably damaging |
Het |
Nlk |
A |
T |
11: 78,477,762 (GRCm39) |
V327D |
probably damaging |
Het |
Or2f1b |
A |
G |
6: 42,739,880 (GRCm39) |
K298R |
probably null |
Het |
Or5w11 |
A |
T |
2: 87,459,715 (GRCm39) |
I187F |
probably benign |
Het |
Pdzd8 |
C |
T |
19: 59,289,060 (GRCm39) |
G780D |
probably damaging |
Het |
Prune1 |
T |
C |
3: 95,166,548 (GRCm39) |
|
probably benign |
Het |
Qser1 |
A |
T |
2: 104,618,606 (GRCm39) |
H645Q |
probably damaging |
Het |
Rd3l |
A |
G |
12: 111,945,901 (GRCm39) |
Y193H |
probably benign |
Het |
Reln |
A |
G |
5: 22,114,956 (GRCm39) |
Y3119H |
probably damaging |
Het |
Scel |
C |
T |
14: 103,802,257 (GRCm39) |
A219V |
probably benign |
Het |
Skint11 |
A |
T |
4: 114,101,833 (GRCm39) |
Q91L |
possibly damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Slc5a5 |
C |
A |
8: 71,338,764 (GRCm39) |
D516Y |
possibly damaging |
Het |
Slc8b1 |
G |
A |
5: 120,665,928 (GRCm39) |
|
probably null |
Het |
Slc9a3 |
A |
G |
13: 74,311,233 (GRCm39) |
E576G |
possibly damaging |
Het |
Slco1b2 |
A |
T |
6: 141,580,271 (GRCm39) |
|
probably benign |
Het |
Smc5 |
A |
G |
19: 23,209,223 (GRCm39) |
V647A |
probably damaging |
Het |
Snph |
T |
C |
2: 151,436,263 (GRCm39) |
N222D |
possibly damaging |
Het |
Stxbp6 |
T |
C |
12: 44,948,806 (GRCm39) |
D101G |
probably damaging |
Het |
Taar7b |
A |
G |
10: 23,875,879 (GRCm39) |
I15V |
probably benign |
Het |
Tdrd12 |
G |
T |
7: 35,200,826 (GRCm39) |
N338K |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Tmem219 |
A |
T |
7: 126,495,988 (GRCm39) |
D128E |
probably benign |
Het |
Togaram2 |
A |
G |
17: 71,992,166 (GRCm39) |
T3A |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,724,627 (GRCm39) |
|
probably benign |
Het |
Uchl1 |
C |
A |
5: 66,834,382 (GRCm39) |
C47* |
probably null |
Het |
Unc79 |
T |
G |
12: 102,977,542 (GRCm39) |
S182A |
probably benign |
Het |
Vmn2r1 |
A |
G |
3: 63,989,138 (GRCm39) |
T26A |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Vps54 |
T |
C |
11: 21,256,947 (GRCm39) |
V685A |
probably damaging |
Het |
Zcchc7 |
T |
G |
4: 44,762,250 (GRCm39) |
V126G |
possibly damaging |
Het |
Zmym2 |
A |
G |
14: 57,180,808 (GRCm39) |
T907A |
probably benign |
Het |
|
Other mutations in Srbd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00963:Srbd1
|
APN |
17 |
86,422,637 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00988:Srbd1
|
APN |
17 |
86,437,698 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01111:Srbd1
|
APN |
17 |
86,405,961 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02233:Srbd1
|
APN |
17 |
86,406,050 (GRCm39) |
splice site |
probably null |
|
IGL02307:Srbd1
|
APN |
17 |
86,433,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02392:Srbd1
|
APN |
17 |
86,295,801 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02831:Srbd1
|
APN |
17 |
86,311,299 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03299:Srbd1
|
APN |
17 |
86,428,087 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4494001:Srbd1
|
UTSW |
17 |
86,449,787 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4677001:Srbd1
|
UTSW |
17 |
86,422,640 (GRCm39) |
nonsense |
probably null |
|
R0233:Srbd1
|
UTSW |
17 |
86,365,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R0233:Srbd1
|
UTSW |
17 |
86,365,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R0464:Srbd1
|
UTSW |
17 |
86,427,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R0692:Srbd1
|
UTSW |
17 |
86,443,888 (GRCm39) |
missense |
probably benign |
0.25 |
R0771:Srbd1
|
UTSW |
17 |
86,437,682 (GRCm39) |
missense |
probably benign |
0.09 |
R1074:Srbd1
|
UTSW |
17 |
86,311,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R1173:Srbd1
|
UTSW |
17 |
86,405,940 (GRCm39) |
missense |
probably null |
1.00 |
R1446:Srbd1
|
UTSW |
17 |
86,446,580 (GRCm39) |
missense |
probably benign |
0.44 |
R1587:Srbd1
|
UTSW |
17 |
86,292,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R1780:Srbd1
|
UTSW |
17 |
86,365,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R1865:Srbd1
|
UTSW |
17 |
86,422,732 (GRCm39) |
splice site |
probably benign |
|
R1933:Srbd1
|
UTSW |
17 |
86,410,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R1934:Srbd1
|
UTSW |
17 |
86,410,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R2002:Srbd1
|
UTSW |
17 |
86,449,828 (GRCm39) |
missense |
probably benign |
|
R2228:Srbd1
|
UTSW |
17 |
86,292,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R3160:Srbd1
|
UTSW |
17 |
86,437,643 (GRCm39) |
missense |
probably benign |
0.03 |
R3162:Srbd1
|
UTSW |
17 |
86,437,643 (GRCm39) |
missense |
probably benign |
0.03 |
R3162:Srbd1
|
UTSW |
17 |
86,437,643 (GRCm39) |
missense |
probably benign |
0.03 |
R3439:Srbd1
|
UTSW |
17 |
86,365,187 (GRCm39) |
missense |
probably benign |
0.01 |
R3611:Srbd1
|
UTSW |
17 |
86,410,355 (GRCm39) |
missense |
probably benign |
0.03 |
R4255:Srbd1
|
UTSW |
17 |
86,410,350 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4300:Srbd1
|
UTSW |
17 |
86,292,632 (GRCm39) |
missense |
probably damaging |
0.98 |
R4319:Srbd1
|
UTSW |
17 |
86,358,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R4619:Srbd1
|
UTSW |
17 |
86,416,693 (GRCm39) |
missense |
probably benign |
0.30 |
R4620:Srbd1
|
UTSW |
17 |
86,416,693 (GRCm39) |
missense |
probably benign |
0.30 |
R4629:Srbd1
|
UTSW |
17 |
86,428,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R5379:Srbd1
|
UTSW |
17 |
86,308,964 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5469:Srbd1
|
UTSW |
17 |
86,427,370 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5587:Srbd1
|
UTSW |
17 |
86,435,229 (GRCm39) |
missense |
probably damaging |
0.99 |
R5726:Srbd1
|
UTSW |
17 |
86,428,157 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6166:Srbd1
|
UTSW |
17 |
86,406,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R6237:Srbd1
|
UTSW |
17 |
86,292,723 (GRCm39) |
missense |
probably damaging |
0.99 |
R6696:Srbd1
|
UTSW |
17 |
86,446,619 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6971:Srbd1
|
UTSW |
17 |
86,406,718 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6986:Srbd1
|
UTSW |
17 |
86,292,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R7018:Srbd1
|
UTSW |
17 |
86,443,843 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7082:Srbd1
|
UTSW |
17 |
86,365,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R7209:Srbd1
|
UTSW |
17 |
86,308,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R7340:Srbd1
|
UTSW |
17 |
86,443,782 (GRCm39) |
missense |
probably benign |
0.02 |
R7417:Srbd1
|
UTSW |
17 |
86,443,749 (GRCm39) |
missense |
probably benign |
|
R7467:Srbd1
|
UTSW |
17 |
86,406,702 (GRCm39) |
missense |
probably damaging |
0.96 |
R7833:Srbd1
|
UTSW |
17 |
86,292,882 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8720:Srbd1
|
UTSW |
17 |
86,358,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R8839:Srbd1
|
UTSW |
17 |
86,295,849 (GRCm39) |
missense |
probably benign |
|
R8899:Srbd1
|
UTSW |
17 |
86,292,885 (GRCm39) |
missense |
|
|
R8905:Srbd1
|
UTSW |
17 |
86,308,890 (GRCm39) |
missense |
probably benign |
0.00 |
R9051:Srbd1
|
UTSW |
17 |
86,428,115 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9402:Srbd1
|
UTSW |
17 |
86,406,705 (GRCm39) |
missense |
probably benign |
0.26 |
R9701:Srbd1
|
UTSW |
17 |
86,433,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R9729:Srbd1
|
UTSW |
17 |
86,437,550 (GRCm39) |
missense |
probably benign |
|
R9733:Srbd1
|
UTSW |
17 |
86,422,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |