Incidental Mutation 'R7018:Srbd1'
| ID |
545477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srbd1
|
| Ensembl Gene |
ENSMUSG00000024135 |
| Gene Name |
S1 RNA binding domain 1 |
| Synonyms |
D530025C17Rik |
| MMRRC Submission |
045119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R7018 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
86292093-86452603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86443843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 128
(R128W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095187]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095187
AA Change: R128W
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: R128W
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcdd1 |
G |
T |
18: 63,070,120 (GRCm39) |
R129L |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,101,943 (GRCm39) |
V844I |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,265,665 (GRCm39) |
V1569A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,748,747 (GRCm39) |
S431T |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,360,953 (GRCm39) |
D795G |
possibly damaging |
Het |
| Crygf |
T |
C |
1: 65,967,130 (GRCm39) |
S85P |
probably benign |
Het |
| Dip2c |
T |
A |
13: 9,709,314 (GRCm39) |
Y1385N |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,454,509 (GRCm39) |
V840I |
possibly damaging |
Het |
| Dsg1a |
T |
C |
18: 20,461,795 (GRCm39) |
F299L |
possibly damaging |
Het |
| Fgfr4 |
A |
T |
13: 55,314,013 (GRCm39) |
S576C |
probably damaging |
Het |
| Frmd8 |
T |
C |
19: 5,919,546 (GRCm39) |
D167G |
probably damaging |
Het |
| Gm5105 |
G |
A |
3: 137,755,319 (GRCm39) |
T89I |
unknown |
Het |
| Grhl1 |
C |
T |
12: 24,625,996 (GRCm39) |
S35L |
possibly damaging |
Het |
| Gsn |
A |
G |
2: 35,183,518 (GRCm39) |
E242G |
probably benign |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,661 (GRCm39) |
I140T |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,431,135 (GRCm39) |
Y208H |
possibly damaging |
Het |
| Ighv1-58 |
T |
C |
12: 115,275,985 (GRCm39) |
Y51C |
probably damaging |
Het |
| Iqcj |
T |
A |
3: 67,948,580 (GRCm39) |
Y21* |
probably null |
Het |
| Kcnc4 |
T |
C |
3: 107,366,178 (GRCm39) |
Y10C |
probably benign |
Het |
| Kcnk7 |
G |
T |
19: 5,756,160 (GRCm39) |
G129W |
probably damaging |
Het |
| Kcnq2 |
T |
A |
2: 180,723,517 (GRCm39) |
R620* |
probably null |
Het |
| Klk13 |
C |
A |
7: 43,376,126 (GRCm39) |
P267Q |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,012,488 (GRCm39) |
M729L |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,918,044 (GRCm39) |
|
probably null |
Het |
| Med13l |
G |
A |
5: 118,890,051 (GRCm39) |
R1909H |
probably damaging |
Het |
| Mstn |
T |
A |
1: 53,103,243 (GRCm39) |
L193Q |
possibly damaging |
Het |
| Mylk |
T |
C |
16: 34,820,796 (GRCm39) |
V125A |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,647,233 (GRCm39) |
M547L |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,952,785 (GRCm39) |
S1256P |
probably damaging |
Het |
| Nkain1 |
T |
C |
4: 130,532,118 (GRCm38) |
Y189C |
probably damaging |
Het |
| Oosp3 |
T |
A |
19: 11,676,783 (GRCm39) |
D47E |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,393 (GRCm39) |
I174N |
probably damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,600 (GRCm39) |
I227F |
probably benign |
Het |
| Or5h25 |
A |
G |
16: 58,930,970 (GRCm39) |
M1T |
probably null |
Het |
| Or5p66 |
T |
G |
7: 107,885,551 (GRCm39) |
I261L |
probably benign |
Het |
| Pcdh15 |
G |
T |
10: 74,302,186 (GRCm39) |
G942W |
probably damaging |
Het |
| Pcyox1l |
C |
A |
18: 61,840,625 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,711,838 (GRCm39) |
E1128G |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plscr1 |
T |
A |
9: 92,146,715 (GRCm39) |
V119D |
probably damaging |
Het |
| Prss56 |
A |
T |
1: 87,113,670 (GRCm39) |
D258V |
possibly damaging |
Het |
| Ptpn23 |
T |
G |
9: 110,214,884 (GRCm39) |
K85Q |
possibly damaging |
Het |
| Ranbp3l |
C |
A |
15: 9,037,159 (GRCm39) |
S7Y |
probably benign |
Het |
| Rnf31 |
T |
C |
14: 55,829,690 (GRCm39) |
L85P |
probably damaging |
Het |
| Rptn |
T |
C |
3: 93,305,207 (GRCm39) |
C847R |
possibly damaging |
Het |
| Six4 |
T |
A |
12: 73,155,727 (GRCm39) |
E413D |
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,212,143 (GRCm39) |
V1115A |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,220,755 (GRCm39) |
K401E |
unknown |
Het |
| Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
| Susd1 |
T |
G |
4: 59,390,627 (GRCm39) |
T230P |
probably benign |
Het |
| Thumpd2 |
G |
T |
17: 81,363,326 (GRCm39) |
S47* |
probably null |
Het |
| Tmprss11a |
C |
T |
5: 86,576,429 (GRCm39) |
V141I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,821,741 (GRCm39) |
Y438C |
possibly damaging |
Het |
| Tnfrsf1a |
T |
C |
6: 125,333,914 (GRCm39) |
S56P |
probably damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,610 (GRCm39) |
W90R |
probably benign |
Het |
| Utp25 |
A |
G |
1: 192,797,163 (GRCm39) |
I563T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdr20rt |
A |
T |
12: 65,272,536 (GRCm39) |
|
probably null |
Het |
| Zfp646 |
C |
A |
7: 127,481,494 (GRCm39) |
Q1224K |
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 |
|
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 |
|
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'- GGACATGACTCAGTCCTGATCC -3'
(R):5'- GGCACATGTAGATACATCATTTACTTT -3'
Sequencing Primer
(F):5'- GATCCTCTTTACCGGGGACTG -3'
(R):5'- ATGGGGCTGTCTCAACTTAAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation