Incidental Mutation 'R0575:Strbp'
ID 56186
Institutional Source Beutler Lab
Gene Symbol Strbp
Ensembl Gene ENSMUSG00000026915
Gene Name spermatid perinuclear RNA binding protein
Synonyms Spnr, C230082I21Rik, 6430510M02Rik
MMRRC Submission 038765-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.526) question?
Stock # R0575 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 37459880-37593890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37530885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 123 (D123V)
Ref Sequence ENSEMBL: ENSMUSP00000122263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028279] [ENSMUST00000072186] [ENSMUST00000145808] [ENSMUST00000155237] [ENSMUST00000183690]
AlphaFold Q91WM1
Predicted Effect possibly damaging
Transcript: ENSMUST00000028279
AA Change: D123V

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028279
Gene: ENSMUSG00000026915
AA Change: D123V

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000072186
AA Change: D123V

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072047
Gene: ENSMUSG00000026915
AA Change: D123V

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135488
Predicted Effect possibly damaging
Transcript: ENSMUST00000145808
AA Change: D123V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120163
Gene: ENSMUSG00000026915
AA Change: D123V

DomainStartEndE-ValueType
Pfam:DZF 87 167 1.4e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155237
AA Change: D123V

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122263
Gene: ENSMUSG00000026915
AA Change: D123V

DomainStartEndE-ValueType
Pfam:DZF 87 128 2e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183690
AA Change: D123V

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915
AA Change: D123V

DomainStartEndE-ValueType
DZF 81 334 2.45e-168 SMART
DSRM 388 452 3.11e-16 SMART
low complexity region 474 497 N/A INTRINSIC
DSRM 511 575 1.2e-22 SMART
low complexity region 578 593 N/A INTRINSIC
low complexity region 608 618 N/A INTRINSIC
Meta Mutation Damage Score 0.1940 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (30/30)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex. Minor brain abnormalities and spermatogenesis defects were also noted. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,828,709 (GRCm39) S264N possibly damaging Het
Acsm1 G A 7: 119,258,424 (GRCm39) probably null Het
Adsl C T 15: 80,847,886 (GRCm39) A93V probably damaging Het
Agbl5 A T 5: 31,051,798 (GRCm39) S539C probably damaging Het
Aggf1 T A 13: 95,504,905 (GRCm39) T285S probably benign Het
Anapc11 A G 11: 120,490,192 (GRCm39) D36G probably benign Het
Ankrd44 G A 1: 54,801,469 (GRCm39) A286V probably damaging Het
Atf7ip2 G T 16: 10,055,075 (GRCm39) G281C probably damaging Het
Birc6 A G 17: 74,996,232 (GRCm39) K4475E probably damaging Het
Ccbe1 T A 18: 66,227,066 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,552,288 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,951,934 (GRCm39) probably benign Het
Dtwd2 C A 18: 49,831,539 (GRCm39) C156F probably damaging Het
Efcab6 T G 15: 83,851,901 (GRCm39) I326L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
F5 C A 1: 164,003,813 (GRCm39) Q203K probably damaging Het
Frs3 A G 17: 48,014,648 (GRCm39) H447R possibly damaging Het
Gmds T G 13: 32,124,566 (GRCm39) Q264P probably damaging Het
Golgb1 T A 16: 36,739,171 (GRCm39) D2503E probably benign Het
Lgi4 G A 7: 30,759,518 (GRCm39) G25R probably benign Het
Or2y1b G A 11: 49,208,880 (GRCm39) C169Y probably damaging Het
Or5b107 T A 19: 13,142,751 (GRCm39) Y124* probably null Het
Pcdh20 A G 14: 88,705,048 (GRCm39) S751P probably damaging Het
Pcnx4 A G 12: 72,614,010 (GRCm39) T652A probably benign Het
Pom121l2 T G 13: 22,168,338 (GRCm39) F870V probably damaging Het
Prob1 T C 18: 35,787,774 (GRCm39) D160G possibly damaging Het
Spa17 T C 9: 37,514,689 (GRCm39) K133E probably damaging Het
Tnxb A G 17: 34,936,180 (GRCm39) T3586A possibly damaging Het
Zfp518a T A 19: 40,900,759 (GRCm39) H229Q probably damaging Het
Other mutations in Strbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Strbp APN 2 37,476,516 (GRCm39) splice site probably benign
IGL00656:Strbp APN 2 37,493,150 (GRCm39) splice site probably benign
IGL01376:Strbp APN 2 37,535,663 (GRCm39) missense probably damaging 1.00
IGL01998:Strbp APN 2 37,515,297 (GRCm39) missense probably damaging 1.00
IGL02347:Strbp APN 2 37,535,660 (GRCm39) missense probably benign 0.25
IGL02453:Strbp APN 2 37,476,520 (GRCm39) critical splice donor site probably null
IGL02804:Strbp APN 2 37,514,498 (GRCm39) splice site probably benign
IGL03102:Strbp APN 2 37,476,515 (GRCm39) splice site probably benign
PIT4418001:Strbp UTSW 2 37,535,504 (GRCm39) missense probably benign
R0382:Strbp UTSW 2 37,490,838 (GRCm39) missense probably benign 0.00
R0610:Strbp UTSW 2 37,474,089 (GRCm39) missense probably damaging 0.97
R0825:Strbp UTSW 2 37,525,539 (GRCm39) missense probably benign 0.00
R1829:Strbp UTSW 2 37,530,921 (GRCm39) missense possibly damaging 0.63
R1831:Strbp UTSW 2 37,515,277 (GRCm39) missense possibly damaging 0.71
R3416:Strbp UTSW 2 37,480,737 (GRCm39) missense possibly damaging 0.94
R3417:Strbp UTSW 2 37,480,737 (GRCm39) missense possibly damaging 0.94
R4673:Strbp UTSW 2 37,535,691 (GRCm39) missense probably damaging 1.00
R5093:Strbp UTSW 2 37,517,499 (GRCm39) missense probably damaging 0.99
R5099:Strbp UTSW 2 37,493,030 (GRCm39) missense probably damaging 0.98
R5269:Strbp UTSW 2 37,517,455 (GRCm39) missense possibly damaging 0.87
R5378:Strbp UTSW 2 37,490,818 (GRCm39) missense probably benign 0.03
R5378:Strbp UTSW 2 37,489,186 (GRCm39) missense probably damaging 1.00
R5454:Strbp UTSW 2 37,535,495 (GRCm39) missense probably benign 0.00
R5905:Strbp UTSW 2 37,515,267 (GRCm39) missense probably damaging 1.00
R6028:Strbp UTSW 2 37,515,267 (GRCm39) missense probably damaging 1.00
R6374:Strbp UTSW 2 37,493,020 (GRCm39) missense probably damaging 1.00
R6700:Strbp UTSW 2 37,493,975 (GRCm39) missense probably null 0.01
R6800:Strbp UTSW 2 37,515,228 (GRCm39) missense probably damaging 1.00
R7032:Strbp UTSW 2 37,493,125 (GRCm39) missense possibly damaging 0.92
R7139:Strbp UTSW 2 37,514,514 (GRCm39) missense probably benign 0.00
R7261:Strbp UTSW 2 37,531,149 (GRCm39) splice site probably null
R7481:Strbp UTSW 2 37,490,766 (GRCm39) missense probably benign 0.02
R7718:Strbp UTSW 2 37,515,294 (GRCm39) missense probably damaging 1.00
R7959:Strbp UTSW 2 37,530,906 (GRCm39) missense probably benign 0.00
R8921:Strbp UTSW 2 37,514,503 (GRCm39) critical splice donor site probably null
R8936:Strbp UTSW 2 37,493,949 (GRCm39) nonsense probably null
R9742:Strbp UTSW 2 37,515,268 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTCACAAAGTAATCCTGTGGCCTC -3'
(R):5'- ATTTGTAGGGATCAAGGTGGCCGGAC -3'

Sequencing Primer
(F):5'- aatcctgtggcctcacatc -3'
(R):5'- AAGGTGGCCGGACATTGTG -3'
Posted On 2013-07-11