Incidental Mutation 'R6343:Srrd'
ID 513997
Institutional Source Beutler Lab
Gene Symbol Srrd
Ensembl Gene ENSMUSG00000029346
Gene Name SRR1 domain containing
Synonyms 2810002G02Rik, Srr1
MMRRC Submission 044497-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.794) question?
Stock # R6343 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 112485258-112490906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 112487866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 104 (A104G)
Ref Sequence ENSEMBL: ENSMUSP00000119870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031288] [ENSMUST00000031289] [ENSMUST00000035279] [ENSMUST00000112359] [ENSMUST00000146510]
AlphaFold Q8K2M3
Predicted Effect probably benign
Transcript: ENSMUST00000031288
SMART Domains Protein: ENSMUSP00000031288
Gene: ENSMUSG00000029345

DomainStartEndE-ValueType
Pfam:TIP_N 17 114 1.4e-30 PFAM
G_patch 148 194 3.3e-18 SMART
low complexity region 212 218 N/A INTRINSIC
low complexity region 228 242 N/A INTRINSIC
Pfam:GCFC 398 667 3.4e-102 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031289
AA Change: A105G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000031289
Gene: ENSMUSG00000029346
AA Change: A105G

DomainStartEndE-ValueType
low complexity region 13 54 N/A INTRINSIC
Pfam:SRR1 109 164 2.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035279
SMART Domains Protein: ENSMUSP00000047920
Gene: ENSMUSG00000042328

DomainStartEndE-ValueType
low complexity region 171 180 N/A INTRINSIC
low complexity region 467 486 N/A INTRINSIC
low complexity region 514 529 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112359
SMART Domains Protein: ENSMUSP00000107978
Gene: ENSMUSG00000042328

DomainStartEndE-ValueType
low complexity region 171 180 N/A INTRINSIC
low complexity region 467 486 N/A INTRINSIC
low complexity region 514 529 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126736
Predicted Effect probably benign
Transcript: ENSMUST00000146510
AA Change: A104G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000119870
Gene: ENSMUSG00000029346
AA Change: A104G

DomainStartEndE-ValueType
low complexity region 12 53 N/A INTRINSIC
Pfam:SRR1 109 162 1.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133708
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,205,378 (GRCm39) L301Q probably damaging Het
Adgrl4 T C 3: 151,223,443 (GRCm39) L632P probably damaging Het
Cacna2d1 T A 5: 16,527,562 (GRCm39) I539N probably benign Het
Camta1 T A 4: 151,164,306 (GRCm39) H314L probably damaging Het
Car2 T C 3: 14,953,025 (GRCm39) S56P probably damaging Het
Chrm5 G A 2: 112,309,793 (GRCm39) A441V probably damaging Het
Ckap5 T A 2: 91,426,819 (GRCm39) N1380K possibly damaging Het
Cspg4 T C 9: 56,799,976 (GRCm39) V1580A probably benign Het
Dcc A G 18: 71,469,106 (GRCm39) L1099P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epha5 A T 5: 84,254,606 (GRCm39) H644Q probably damaging Het
Eya3 T C 4: 132,400,221 (GRCm39) I80T probably damaging Het
Fdft1 A T 14: 63,388,721 (GRCm39) Y304N probably damaging Het
Fiz1 C T 7: 5,011,400 (GRCm39) A373T possibly damaging Het
Gpatch2l T A 12: 86,307,379 (GRCm39) Y252* probably null Het
Hivep1 G T 13: 42,313,147 (GRCm39) G1796* probably null Het
Irf8 T C 8: 121,480,446 (GRCm39) V228A probably damaging Het
Islr A C 9: 58,064,379 (GRCm39) V376G probably damaging Het
Kdm5a T C 6: 120,359,894 (GRCm39) V230A probably benign Het
Lpgat1 A G 1: 191,508,684 (GRCm39) probably null Het
Lrp8 T C 4: 107,726,353 (GRCm39) probably null Het
Lyzl4 A C 9: 121,407,150 (GRCm39) S127A possibly damaging Het
Map4k1 T C 7: 28,699,715 (GRCm39) V606A possibly damaging Het
Mau2 T A 8: 70,484,173 (GRCm39) K138N probably damaging Het
Meikin T C 11: 54,261,592 (GRCm39) L33P probably damaging Het
Mrpl28 T C 17: 26,345,252 (GRCm39) V224A probably benign Het
Ncdn T C 4: 126,640,964 (GRCm39) D512G possibly damaging Het
Nlrp2 T A 7: 5,303,925 (GRCm39) Q200L possibly damaging Het
Nup98 T C 7: 101,843,957 (GRCm39) N89S possibly damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or14a258 T A 7: 86,035,059 (GRCm39) R270* probably null Het
Or52p2 A G 7: 102,237,753 (GRCm39) C66R probably damaging Het
Or5b12 G T 19: 12,896,946 (GRCm39) H242Q probably damaging Het
Or6c201 A T 10: 128,969,535 (GRCm39) L34* probably null Het
Padi3 C T 4: 140,530,819 (GRCm39) V68I possibly damaging Het
Pign A T 1: 105,512,820 (GRCm39) M621K probably benign Het
Pigv C T 4: 133,392,547 (GRCm39) V208M probably damaging Het
Ripk4 A G 16: 97,564,726 (GRCm39) probably benign Het
Rsf1 A G 7: 97,310,124 (GRCm39) K285E probably benign Het
Serpina3k G C 12: 104,311,562 (GRCm39) G380A probably benign Het
Sorbs1 A G 19: 40,365,426 (GRCm39) probably null Het
Tbp T A 17: 15,721,351 (GRCm39) probably null Het
Tecrl G A 5: 83,442,447 (GRCm39) H209Y probably damaging Het
Tmprss11c A G 5: 86,404,204 (GRCm39) L157P probably damaging Het
Tmprss13 A T 9: 45,254,498 (GRCm39) T422S possibly damaging Het
Ttll5 A G 12: 86,003,473 (GRCm39) H1103R probably benign Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Vldlr A G 19: 27,223,049 (GRCm39) Y699C probably damaging Het
Vmn1r22 T G 6: 57,877,563 (GRCm39) N138T possibly damaging Het
Other mutations in Srrd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0245:Srrd UTSW 5 112,485,394 (GRCm39) utr 3 prime probably benign
R2038:Srrd UTSW 5 112,486,316 (GRCm39) missense probably benign 0.12
R2162:Srrd UTSW 5 112,490,810 (GRCm39) unclassified probably benign
R2172:Srrd UTSW 5 112,488,988 (GRCm39) missense possibly damaging 0.95
R2246:Srrd UTSW 5 112,487,622 (GRCm39) missense probably damaging 1.00
R7226:Srrd UTSW 5 112,485,322 (GRCm39) missense unknown
R8879:Srrd UTSW 5 112,486,322 (GRCm39) missense possibly damaging 0.91
R8883:Srrd UTSW 5 112,487,790 (GRCm39) missense possibly damaging 0.95
R9105:Srrd UTSW 5 112,485,465 (GRCm39) missense possibly damaging 0.95
R9487:Srrd UTSW 5 112,490,765 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGACCCAGCAGTGACTTCTG -3'
(R):5'- GGCTTCTTTCACAGTCCTGG -3'

Sequencing Primer
(F):5'- AGCAGTGACTTCTGGGGAC -3'
(R):5'- TCACAGTCCTGGCTCCAG -3'
Posted On 2018-04-27