Incidental Mutation 'R4619:Srbd1'
| ID |
345210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srbd1
|
| Ensembl Gene |
ENSMUSG00000024135 |
| Gene Name |
S1 RNA binding domain 1 |
| Synonyms |
D530025C17Rik |
| MMRRC Submission |
041885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R4619 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
86292093-86452603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86416693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 488
(F488L)
|
| 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: F488L
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: F488L
| 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 |
|
| Meta Mutation Damage Score |
0.1885 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,775,520 (GRCm39) |
V1570I |
probably damaging |
Het |
| Alx4 |
A |
G |
2: 93,473,106 (GRCm39) |
R35G |
probably damaging |
Het |
| Apod |
T |
C |
16: 31,116,211 (GRCm39) |
D173G |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,361,858 (GRCm39) |
T731I |
possibly damaging |
Het |
| Birc6 |
A |
C |
17: 74,947,145 (GRCm39) |
T2955P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,587,612 (GRCm39) |
D179N |
probably damaging |
Het |
| Cntnap5c |
G |
T |
17: 58,717,263 (GRCm39) |
V1282L |
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,141,372 (GRCm39) |
R1175H |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,064,836 (GRCm39) |
D349G |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,605,278 (GRCm39) |
I2372V |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,889,007 (GRCm39) |
W389R |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,984,036 (GRCm39) |
T1297A |
unknown |
Het |
| Gart |
T |
C |
16: 91,422,321 (GRCm39) |
N732S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,313,924 (GRCm39) |
I463V |
probably benign |
Het |
| Gm5591 |
G |
A |
7: 38,220,072 (GRCm39) |
S267L |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,309,657 (GRCm39) |
V92A |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,273,884 (GRCm39) |
R2680W |
probably damaging |
Het |
| Insyn2a |
A |
G |
7: 134,520,270 (GRCm39) |
Y87H |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,131,982 (GRCm39) |
V646M |
probably damaging |
Het |
| Kcnk7 |
A |
C |
19: 5,756,463 (GRCm39) |
I230L |
probably benign |
Het |
| Kif3b |
C |
T |
2: 153,158,594 (GRCm39) |
R132* |
probably null |
Het |
| Klra5 |
T |
C |
6: 129,885,776 (GRCm39) |
S128G |
probably benign |
Het |
| Krba1 |
C |
T |
6: 48,383,282 (GRCm39) |
R4* |
probably null |
Het |
| Krt1c |
T |
A |
15: 101,726,026 (GRCm39) |
I171F |
probably damaging |
Het |
| Lss |
A |
G |
10: 76,372,089 (GRCm39) |
D148G |
probably benign |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Mipep |
T |
C |
14: 61,140,865 (GRCm39) |
C566R |
probably damaging |
Het |
| Myocd |
T |
A |
11: 65,069,254 (GRCm39) |
|
probably benign |
Het |
| Ndufa9 |
C |
T |
6: 126,804,498 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
G |
A |
19: 46,071,959 (GRCm39) |
G583D |
probably damaging |
Het |
| Nucb2 |
T |
C |
7: 116,127,059 (GRCm39) |
|
probably null |
Het |
| Or1i2 |
T |
C |
10: 78,448,409 (GRCm39) |
D22G |
probably benign |
Het |
| Or52e19 |
C |
T |
7: 102,959,165 (GRCm39) |
T79I |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,301 (GRCm39) |
I145N |
possibly damaging |
Het |
| Pank4 |
C |
A |
4: 155,061,076 (GRCm39) |
D508E |
probably benign |
Het |
| Phb1 |
T |
A |
11: 95,562,416 (GRCm39) |
|
probably benign |
Het |
| Pign |
T |
A |
1: 105,449,715 (GRCm39) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,076,382 (GRCm39) |
K349E |
probably benign |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,743 (GRCm39) |
V9E |
possibly damaging |
Het |
| Rap1gap |
T |
A |
4: 137,443,422 (GRCm39) |
V130D |
probably damaging |
Het |
| Senp3 |
T |
A |
11: 69,567,944 (GRCm39) |
Y432F |
probably benign |
Het |
| Serpina3f |
T |
C |
12: 104,183,549 (GRCm39) |
I137T |
possibly damaging |
Het |
| Slc46a3 |
T |
A |
5: 147,823,540 (GRCm39) |
K101* |
probably null |
Het |
| Snph |
G |
A |
2: 151,436,434 (GRCm39) |
Q96* |
probably null |
Het |
| Sptb |
A |
T |
12: 76,630,581 (GRCm39) |
C2244* |
probably null |
Het |
| Ssc5d |
A |
T |
7: 4,932,524 (GRCm39) |
H396L |
probably damaging |
Het |
| Sulf1 |
A |
C |
1: 12,856,876 (GRCm39) |
R42S |
probably damaging |
Het |
| Taf1a |
T |
A |
1: 183,181,752 (GRCm39) |
|
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,876,218 (GRCm39) |
M609K |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,568,617 (GRCm39) |
I1588F |
probably damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,020,247 (GRCm39) |
V402I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,818,358 (GRCm39) |
D524G |
probably damaging |
Het |
| Trbv31 |
T |
C |
6: 41,534,901 (GRCm39) |
I21V |
probably benign |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,398 (GRCm39) |
T233S |
possibly damaging |
Het |
| Vmn1r74 |
G |
C |
7: 11,581,403 (GRCm39) |
Q234H |
probably damaging |
Het |
| Vsx1 |
A |
T |
2: 150,530,529 (GRCm39) |
S118T |
probably benign |
Het |
| Wnt9b |
G |
A |
11: 103,621,949 (GRCm39) |
T236I |
probably benign |
Het |
| Zbtb21 |
T |
C |
16: 97,751,092 (GRCm39) |
T1092A |
possibly damaging |
Het |
| Zc3hc1 |
G |
A |
6: 30,387,523 (GRCm39) |
T52I |
probably benign |
Het |
| Zfp558 |
T |
A |
9: 18,367,577 (GRCm39) |
N404Y |
possibly damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,031 (GRCm39) |
D325V |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,623,879 (GRCm39) |
M96K |
probably damaging |
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 |
|
IGL02186:Srbd1
|
APN |
17 |
86,416,659 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATACTGACCTATGCGTGAGAC -3'
(R):5'- GCCCCTCCTTCCAGATAATG -3'
Sequencing Primer
(F):5'- CTGACCTATGCGTGAGACTAAATC -3'
(R):5'- CTCCTTCCAGATAATGTTATAAAGGC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation