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) question?
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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