Incidental Mutation 'R7340:Srbd1'
ID 569810
Institutional Source Beutler Lab
Gene Symbol Srbd1
Ensembl Gene ENSMUSG00000024135
Gene Name S1 RNA binding domain 1
Synonyms D530025C17Rik
MMRRC Submission 045430-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R7340 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 86292093-86452603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86443782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 148 (V148E)
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: V148E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: V148E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (83/84)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Adam30 A T 3: 98,069,637 (GRCm39) N490I probably benign Het
Ankrd55 A T 13: 112,492,497 (GRCm39) I223F probably damaging Het
Ano8 T A 8: 71,935,655 (GRCm39) E321V probably damaging Het
Apc2 A G 10: 80,149,316 (GRCm39) K1457E probably benign Het
Asb15 T A 6: 24,558,513 (GRCm39) V38E probably benign Het
Atp4a T C 7: 30,416,155 (GRCm39) S417P possibly damaging Het
AY358078 A G 14: 52,063,716 (GRCm39) N454S probably damaging Het
Cables2 A G 2: 179,903,450 (GRCm39) Y245H Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Camsap3 G A 8: 3,637,960 (GRCm39) probably null Het
Ccdc178 A T 18: 22,150,518 (GRCm39) V705E probably benign Het
Ccdc47 T C 11: 106,091,799 (GRCm39) Q472R possibly damaging Het
Ccdc62 A G 5: 124,089,283 (GRCm39) D307G probably damaging Het
Cdcp3 A G 7: 130,879,344 (GRCm39) T1788A unknown Het
Cdh23 A G 10: 60,366,775 (GRCm39) I235T probably benign Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cfap65 T C 1: 74,960,742 (GRCm39) N743D probably benign Het
Cimap1b T A 15: 89,262,610 (GRCm39) T116S probably benign Het
Clec16a A G 16: 10,398,827 (GRCm39) N329S probably null Het
Col25a1 A G 3: 130,340,006 (GRCm39) probably null Het
Daam1 T G 12: 72,035,713 (GRCm39) D969E probably benign Het
Dntt A C 19: 41,047,004 (GRCm39) probably null Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Dst T A 1: 34,229,810 (GRCm39) Y2468N probably benign Het
Exosc9 A G 3: 36,615,297 (GRCm39) T262A possibly damaging Het
Exph5 G A 9: 53,288,309 (GRCm39) A1797T probably damaging Het
Fbp2 A T 13: 62,985,061 (GRCm39) Y287N probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Fus T A 7: 127,581,123 (GRCm39) probably null Het
Galnt9 T A 5: 110,762,054 (GRCm39) N397K probably damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gga1 A G 15: 78,775,651 (GRCm39) T369A probably benign Het
Gp1ba T C 11: 70,531,119 (GRCm39) I295T unknown Het
Hk2 T C 6: 82,705,873 (GRCm39) E810G probably benign Het
Igsf10 A G 3: 59,233,189 (GRCm39) V1848A probably damaging Het
Insrr G A 3: 87,721,623 (GRCm39) probably null Het
Ip6k3 T A 17: 27,367,504 (GRCm39) M231L probably benign Het
Itgb8 T C 12: 119,155,939 (GRCm39) N171S probably benign Het
Ldlrad3 T C 2: 101,897,184 (GRCm39) probably null Het
Ltbp1 T A 17: 75,634,223 (GRCm39) C886* probably null Het
Mettl13 T C 1: 162,366,547 (GRCm39) D444G probably benign Het
Mns1 A G 9: 72,356,025 (GRCm39) Y224C probably damaging Het
Mri1 C T 8: 84,983,525 (GRCm39) R122Q probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo5c A C 9: 75,196,423 (GRCm39) K1290Q probably benign Het
Nlrp12 T G 7: 3,281,755 (GRCm39) Q842H possibly damaging Het
Oga G A 19: 45,755,895 (GRCm39) Q583* probably null Het
Or14c44 T C 7: 86,061,957 (GRCm39) L129P possibly damaging Het
Or14j8 T A 17: 38,263,413 (GRCm39) R167S probably benign Het
Or2t1 A T 14: 14,328,401 (GRCm38) T97S possibly damaging Het
Or5d39 T C 2: 87,979,620 (GRCm39) T248A possibly damaging Het
Otoa A G 7: 120,729,288 (GRCm39) T554A probably benign Het
Per1 A G 11: 68,994,008 (GRCm39) D438G probably damaging Het
Phactr3 G A 2: 177,975,854 (GRCm39) R533H probably damaging Het
Phykpl T C 11: 51,490,370 (GRCm39) F417S probably damaging Het
Pole A T 5: 110,482,330 (GRCm39) T2057S probably benign Het
Polq A G 16: 36,881,288 (GRCm39) T1151A probably benign Het
Polr1g T C 7: 19,093,073 (GRCm39) T36A probably benign Het
Rbm26 A T 14: 105,389,976 (GRCm39) V216E possibly damaging Het
Ryk T C 9: 102,775,737 (GRCm39) I449T probably damaging Het
Sap25 A G 5: 137,640,935 (GRCm39) T225A probably benign Het
Sart3 A G 5: 113,882,728 (GRCm39) M864T probably benign Het
Sec31b T C 19: 44,517,161 (GRCm39) S280G probably benign Het
Sema4d A T 13: 51,877,598 (GRCm39) I78N probably damaging Het
Sgip1 G C 4: 102,778,661 (GRCm39) R419S unknown Het
Slc13a3 T C 2: 165,272,210 (GRCm39) I278V probably benign Het
Slc2a5 A G 4: 150,224,439 (GRCm39) D312G probably benign Het
Slc39a2 A T 14: 52,131,660 (GRCm39) Q77L possibly damaging Het
Syngr2 A G 11: 117,703,322 (GRCm39) E46G probably damaging Het
Taok1 A G 11: 77,470,643 (GRCm39) V54A possibly damaging Het
Tas2r106 T A 6: 131,655,185 (GRCm39) H222L probably damaging Het
Tcaf3 A G 6: 42,566,848 (GRCm39) I747T probably benign Het
Tmem151b G T 17: 45,856,195 (GRCm39) P415Q probably benign Het
Tmf1 T C 6: 97,145,061 (GRCm39) D659G possibly damaging Het
Tnn G T 1: 159,973,592 (GRCm39) D258E probably damaging Het
Traj33 A G 14: 54,422,862 (GRCm39) I16V unknown Het
Ttll13 G T 7: 79,906,772 (GRCm39) C480F probably damaging Het
Ttn T C 2: 76,714,415 (GRCm39) N8137S unknown Het
Vmn1r85 T C 7: 12,819,073 (GRCm39) N24D probably damaging Het
Wdr81 T C 11: 75,335,525 (GRCm39) Q649R probably null Het
Zan T C 5: 137,382,092 (GRCm39) T5152A unknown Het
Zc3h6 A G 2: 128,835,110 (GRCm39) D82G 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
R7209:Srbd1 UTSW 17 86,308,948 (GRCm39) missense probably damaging 1.00
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'- TGACACGAGGCTGTACTCAC -3'
(R):5'- CTTTATAGAACAGCCCGGTGG -3'

Sequencing Primer
(F):5'- GAGGCTGTACTCACCTGTACTACG -3'
(R):5'- CCCGGTGGCTATTGTTGATGC -3'
Posted On 2019-09-13