Incidental Mutation 'R7209:Srbd1'
ID |
560968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srbd1
|
Ensembl Gene |
ENSMUSG00000024135 |
Gene Name |
S1 RNA binding domain 1 |
Synonyms |
D530025C17Rik |
MMRRC Submission |
045338-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R7209 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
86292093-86452603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 86308948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 743
(L743F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092810
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095187]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095187
AA Change: L743F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092810 Gene: ENSMUSG00000024135 AA Change: L743F
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 |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
A |
G |
14: 68,767,268 (GRCm39) |
Y61H |
probably damaging |
Het |
Adgrb1 |
T |
G |
15: 74,441,797 (GRCm39) |
V966G |
possibly damaging |
Het |
Adh5 |
G |
A |
3: 138,148,909 (GRCm39) |
|
probably benign |
Het |
Akr1b8 |
T |
C |
6: 34,333,207 (GRCm39) |
V28A |
probably damaging |
Het |
Apbb1 |
T |
A |
7: 105,215,292 (GRCm39) |
I450F |
probably damaging |
Het |
Arhgap23 |
C |
T |
11: 97,366,911 (GRCm39) |
T1064I |
probably damaging |
Het |
Arhgap23 |
G |
C |
11: 97,383,273 (GRCm39) |
|
probably null |
Het |
Atg4b |
A |
G |
1: 93,702,955 (GRCm39) |
I128M |
probably damaging |
Het |
Baat |
A |
T |
4: 49,503,065 (GRCm39) |
I19N |
probably damaging |
Het |
Bspry |
T |
G |
4: 62,404,852 (GRCm39) |
I216S |
possibly damaging |
Het |
Commd9 |
T |
A |
2: 101,725,483 (GRCm39) |
S19T |
possibly damaging |
Het |
Cr2 |
A |
G |
1: 194,851,032 (GRCm39) |
C145R |
probably damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,677,649 (GRCm39) |
L447P |
probably damaging |
Het |
Depdc1b |
T |
C |
13: 108,519,389 (GRCm39) |
M333T |
possibly damaging |
Het |
Dhx9 |
T |
C |
1: 153,340,369 (GRCm39) |
T710A |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,459,371 (GRCm39) |
V4530A |
possibly damaging |
Het |
Dohh |
T |
A |
10: 81,221,874 (GRCm39) |
H89Q |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,566,733 (GRCm39) |
N1171K |
probably benign |
Het |
Dscam |
T |
C |
16: 96,451,544 (GRCm39) |
|
probably null |
Het |
Entpd5 |
T |
A |
12: 84,443,702 (GRCm39) |
S14C |
probably benign |
Het |
Eqtn |
G |
A |
4: 94,813,806 (GRCm39) |
S125F |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,211,704 (GRCm39) |
D197E |
probably benign |
Het |
Fgf18 |
A |
T |
11: 33,084,315 (GRCm39) |
D46E |
probably benign |
Het |
Foxa1 |
T |
A |
12: 57,590,077 (GRCm39) |
M48L |
probably benign |
Het |
Gabrg1 |
C |
A |
5: 70,911,513 (GRCm39) |
C417F |
probably damaging |
Het |
Glrp1 |
T |
A |
1: 88,431,004 (GRCm39) |
Q122L |
unknown |
Het |
Gm5622 |
A |
G |
14: 51,893,363 (GRCm39) |
I97V |
possibly damaging |
Het |
Gusb |
A |
G |
5: 130,027,387 (GRCm39) |
V306A |
probably benign |
Het |
Hars1 |
A |
G |
18: 36,906,593 (GRCm39) |
S126P |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,292,314 (GRCm39) |
S356G |
possibly damaging |
Het |
Hydin |
C |
A |
8: 111,216,424 (GRCm39) |
Y1336* |
probably null |
Het |
Iftap |
T |
C |
2: 101,396,727 (GRCm39) |
*217W |
probably null |
Het |
Kin |
T |
C |
2: 10,096,564 (GRCm39) |
Y138H |
possibly damaging |
Het |
Lypd2 |
C |
T |
15: 74,604,266 (GRCm39) |
V101M |
probably benign |
Het |
Madcam1 |
A |
T |
10: 79,500,892 (GRCm39) |
T70S |
possibly damaging |
Het |
Man1a2 |
A |
G |
3: 100,554,395 (GRCm39) |
C112R |
unknown |
Het |
Mia2 |
T |
A |
12: 59,201,176 (GRCm39) |
V198E |
possibly damaging |
Het |
Mpdz |
C |
T |
4: 81,225,114 (GRCm39) |
V1438M |
possibly damaging |
Het |
Mtif2 |
G |
A |
11: 29,479,996 (GRCm39) |
V21M |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nln |
G |
A |
13: 104,209,406 (GRCm39) |
Q56* |
probably null |
Het |
Nlrp4b |
T |
C |
7: 10,444,297 (GRCm39) |
V82A |
probably benign |
Het |
Obscn |
C |
A |
11: 58,975,933 (GRCm39) |
E2065* |
probably null |
Het |
Or10g1 |
A |
G |
14: 52,647,550 (GRCm39) |
C260R |
possibly damaging |
Het |
Pilrb2 |
C |
T |
5: 137,869,126 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
C |
A |
12: 79,097,150 (GRCm39) |
D99E |
probably benign |
Het |
Polr2b |
T |
A |
5: 77,491,026 (GRCm39) |
F956I |
probably damaging |
Het |
Ppp3cc |
A |
G |
14: 70,504,947 (GRCm39) |
F20L |
probably benign |
Het |
Prmt9 |
T |
C |
8: 78,291,627 (GRCm39) |
V333A |
probably benign |
Het |
Psd4 |
T |
C |
2: 24,287,357 (GRCm39) |
S430P |
probably damaging |
Het |
Relch |
C |
A |
1: 105,678,082 (GRCm39) |
P1136T |
probably damaging |
Het |
Rrp12 |
A |
C |
19: 41,861,388 (GRCm39) |
V973G |
possibly damaging |
Het |
Rxfp2 |
A |
G |
5: 149,976,563 (GRCm39) |
|
probably null |
Het |
S100a6 |
G |
A |
3: 90,521,095 (GRCm39) |
A8T |
possibly damaging |
Het |
Sgsm2 |
C |
A |
11: 74,745,151 (GRCm39) |
G717V |
probably damaging |
Het |
Sipa1 |
A |
G |
19: 5,705,003 (GRCm39) |
Y531H |
probably damaging |
Het |
Slc45a1 |
A |
C |
4: 150,719,669 (GRCm39) |
|
probably null |
Het |
Spopfm3 |
A |
T |
3: 94,106,012 (GRCm39) |
Q110L |
probably benign |
Het |
Taar2 |
A |
T |
10: 23,816,597 (GRCm39) |
I46F |
possibly damaging |
Het |
Tmem241 |
A |
T |
18: 12,237,229 (GRCm39) |
V69D |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,993,074 (GRCm39) |
S535G |
possibly damaging |
Het |
Trgc3 |
A |
G |
13: 19,445,334 (GRCm39) |
N94S |
probably benign |
Het |
Ttc34 |
C |
A |
4: 154,923,585 (GRCm39) |
P98Q |
probably damaging |
Het |
Ubr1 |
C |
A |
2: 120,693,246 (GRCm39) |
R1720L |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,846,478 (GRCm39) |
D1597E |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,091,883 (GRCm39) |
M1930T |
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,751,576 (GRCm39) |
I603F |
not run |
Het |
Vps26b |
A |
T |
9: 26,921,288 (GRCm39) |
S304T |
probably benign |
Het |
Zfp952 |
A |
T |
17: 33,222,444 (GRCm39) |
T308S |
possibly 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 |
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 |
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'- CATCTAGAGCTTTCGGCAGG -3'
(R):5'- TCCAGTATCACAAGCAGCAG -3'
Sequencing Primer
(F):5'- CTTTCGGCAGGAGGGATAAC -3'
(R):5'- CAGTTGCAGGTGATTTTAAGATCC -3'
|
Posted On |
2019-06-26 |