Incidental Mutation 'R0396:Proca1'
ID 32065
Institutional Source Beutler Lab
Gene Symbol Proca1
Ensembl Gene ENSMUSG00000044122
Gene Name protein interacting with cyclin A1
Synonyms
MMRRC Submission 038602-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock # R0396 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 78193392-78205763 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78194905 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 11 (R11S)
Ref Sequence ENSEMBL: ENSMUSP00000103953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002128] [ENSMUST00000056241] [ENSMUST00000060539] [ENSMUST00000078099] [ENSMUST00000108317] [ENSMUST00000108322] [ENSMUST00000150941] [ENSMUST00000207728]
AlphaFold B0QZF7
Predicted Effect probably benign
Transcript: ENSMUST00000002128
SMART Domains Protein: ENSMUSP00000002128
Gene: ENSMUSG00000002059

DomainStartEndE-ValueType
RAB 54 219 2.96e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056241
SMART Domains Protein: ENSMUSP00000059769
Gene: ENSMUSG00000002059

DomainStartEndE-ValueType
Pfam:Arf 43 205 9.5e-13 PFAM
Pfam:Miro 54 166 9.3e-17 PFAM
Pfam:MMR_HSR1 54 204 4.4e-7 PFAM
Pfam:Ras 54 210 4.8e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000060539
AA Change: R11S
SMART Domains Protein: ENSMUSP00000050319
Gene: ENSMUSG00000044122
AA Change: R11S

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078099
SMART Domains Protein: ENSMUSP00000086022
Gene: ENSMUSG00000044122

DomainStartEndE-ValueType
coiled coil region 92 121 N/A INTRINSIC
low complexity region 148 161 N/A INTRINSIC
low complexity region 198 212 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108317
AA Change: R11S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103953
Gene: ENSMUSG00000044122
AA Change: R11S

DomainStartEndE-ValueType
Blast:PA2c 33 99 2e-12 BLAST
SCOP:d1poc__ 55 102 5e-4 SMART
coiled coil region 179 208 N/A INTRINSIC
low complexity region 235 248 N/A INTRINSIC
low complexity region 285 299 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108322
SMART Domains Protein: ENSMUSP00000103958
Gene: ENSMUSG00000002059

DomainStartEndE-ValueType
RAB 54 219 2.96e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148603
Predicted Effect probably benign
Transcript: ENSMUST00000150941
SMART Domains Protein: ENSMUSP00000123033
Gene: ENSMUSG00000002059

DomainStartEndE-ValueType
RAB 60 225 2.96e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154542
Predicted Effect probably benign
Transcript: ENSMUST00000156435
SMART Domains Protein: ENSMUSP00000122848
Gene: ENSMUSG00000002059

DomainStartEndE-ValueType
Pfam:Arf 1 167 4.1e-17 PFAM
Pfam:Roc 6 122 4.5e-32 PFAM
Pfam:MMR_HSR1 6 156 2.3e-8 PFAM
Pfam:Ras 6 168 1.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207728
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.8%
Validation Efficiency 92% (96/104)
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,268,377 V467A possibly damaging Het
4933405L10Rik G A 8: 105,709,780 V194I probably benign Het
Acsm1 A T 7: 119,636,455 I133F probably damaging Het
Adamts9 T A 6: 92,798,005 T1676S probably benign Het
Adcy4 T C 14: 55,772,288 D769G probably benign Het
Aif1 T C 17: 35,171,109 *148W probably null Het
Akna C T 4: 63,392,126 probably benign Het
Arhgap32 G A 9: 32,245,255 probably null Het
Atpaf1 G A 4: 115,785,252 E92K possibly damaging Het
C1s1 T C 6: 124,533,354 E378G probably benign Het
Caprin1 T A 2: 103,769,569 Q108L probably damaging Het
Car13 A T 3: 14,656,239 H154L probably benign Het
Cdon C A 9: 35,470,130 N605K probably damaging Het
Ceacam10 G A 7: 24,781,014 G70E probably damaging Het
Cfap221 G A 1: 119,954,200 T286M probably benign Het
Cfap61 T C 2: 145,949,944 F107S possibly damaging Het
Coil C A 11: 88,981,623 T270N probably benign Het
Crocc2 T G 1: 93,224,214 probably benign Het
Crot T C 5: 8,969,959 E461G probably damaging Het
D130052B06Rik G T 11: 33,623,391 R41L unknown Het
D630045J12Rik T C 6: 38,196,736 S166G possibly damaging Het
Dennd4a T G 9: 64,862,391 V460G probably damaging Het
Depdc7 A T 2: 104,727,323 probably benign Het
Dgkb G A 12: 38,190,135 probably null Het
Dhx57 T G 17: 80,274,797 S407R probably benign Het
Dnase2a G T 8: 84,909,763 probably benign Het
Dqx1 T G 6: 83,059,005 M106R probably benign Het
Eno1b T C 18: 48,047,739 I328T probably benign Het
Ephx2 T G 14: 66,108,063 I151L probably benign Het
Gdf3 C T 6: 122,607,135 G91D probably damaging Het
Gm14124 G A 2: 150,268,053 G221D probably damaging Het
Gpc5 T A 14: 115,428,208 N481K possibly damaging Het
Gsdme T A 6: 50,221,107 H291L probably benign Het
H2-Bl A G 17: 36,083,722 I103T possibly damaging Het
Hif3a G A 7: 17,052,021 probably benign Het
Hmox2 A T 16: 4,765,763 I232L probably benign Het
Itgb2 A G 10: 77,561,189 Y686C probably damaging Het
Jmjd1c A G 10: 67,219,523 T528A possibly damaging Het
Kdr T C 5: 75,960,728 I541V possibly damaging Het
Khdrbs2 C A 1: 32,519,973 V343L probably damaging Het
Kif16b C T 2: 142,853,659 R175H probably damaging Het
Klri2 T G 6: 129,740,288 E44A possibly damaging Het
Kmt2b G T 7: 30,576,755 T1773K probably damaging Het
Lair1 A G 7: 4,010,786 L154P probably damaging Het
Larp1b G A 3: 40,970,561 V158M probably damaging Het
Lgi3 T A 14: 70,534,840 I275N probably damaging Het
Lrba A G 3: 86,295,179 N246D probably damaging Het
Lrrc45 T A 11: 120,714,907 probably benign Het
Mdh2 G T 5: 135,789,679 V263L probably benign Het
Myom1 T A 17: 71,034,693 V149E probably damaging Het
Nanos1 A T 19: 60,757,041 D259V probably damaging Het
Nedd4l T A 18: 65,161,654 probably benign Het
Npas3 A G 12: 53,831,745 Y150C probably damaging Het
Olfr1066 T C 2: 86,456,019 N84S possibly damaging Het
Olfr1129 T A 2: 87,575,567 V161D possibly damaging Het
Olfr1392 A T 11: 49,293,338 I6F probably benign Het
Olfr479 A T 7: 108,055,963 H327L probably benign Het
Olfr672 G A 7: 104,996,706 A66V probably damaging Het
Olfr93 C T 17: 37,151,555 C139Y probably damaging Het
Pde4c A G 8: 70,750,076 N637S probably benign Het
Pds5b T A 5: 150,779,275 V824D possibly damaging Het
Pole2 A T 12: 69,222,386 probably benign Het
Ppig C T 2: 69,735,976 probably benign Het
Prep A G 10: 45,092,676 Y90C probably damaging Het
Prph T A 15: 99,056,991 W313R probably benign Het
Prune2 C T 19: 17,123,080 P1983S probably benign Het
Ptbp2 G A 3: 119,724,198 probably benign Het
Rsph6a C T 7: 19,074,106 P398L probably damaging Het
Sdk2 T C 11: 113,829,967 I1379V probably benign Het
Sf3b1 C T 1: 55,019,271 G53E probably damaging Het
Slc9a3 T C 13: 74,157,784 probably null Het
Smarcal1 A T 1: 72,626,473 H710L probably benign Het
Soat2 GAGAAG GAG 15: 102,150,707 probably benign Het
Sptan1 T C 2: 29,991,033 V438A probably damaging Het
Sstr4 T A 2: 148,396,261 V264D probably damaging Het
Susd2 A G 10: 75,639,911 L418P probably damaging Het
Synj1 A G 16: 90,938,640 V1475A probably benign Het
Szt2 G A 4: 118,376,347 probably benign Het
Tbc1d4 T C 14: 101,458,063 probably null Het
Tesk1 A G 4: 43,446,000 E311G probably damaging Het
Tmed5 A T 5: 108,126,016 V119E probably damaging Het
Tmem260 T C 14: 48,486,867 S201P possibly damaging Het
Tnxb A G 17: 34,671,733 Y350C probably damaging Het
Tpte T C 8: 22,335,608 probably benign Het
Trim37 A T 11: 87,146,968 D161V probably damaging Het
Trrap C A 5: 144,814,556 Q1640K probably damaging Het
Tspoap1 T C 11: 87,776,346 probably benign Het
Ttk T A 9: 83,847,260 probably benign Het
Vmn1r172 A G 7: 23,660,532 S281G probably benign Het
Vmn1r177 A G 7: 23,865,597 S285P probably damaging Het
Vmn1r231 C T 17: 20,890,399 V85I probably damaging Het
Vmn2r100 C A 17: 19,522,120 P252Q possibly damaging Het
Vmn2r118 T C 17: 55,608,643 I436V probably benign Het
Vmn2r12 T C 5: 109,092,899 K116R probably benign Het
Vmn2r28 T A 7: 5,488,514 I245L probably benign Het
Wdr26 A T 1: 181,180,651 probably benign Het
Xrcc3 A T 12: 111,809,957 H67Q probably benign Het
Zbbx A T 3: 75,078,495 S417T possibly damaging Het
Zc3h13 A G 14: 75,323,482 D504G unknown Het
Zfp217 C T 2: 170,115,462 A539T probably benign Het
Zyg11b A T 4: 108,255,308 F388I probably damaging Het
Other mutations in Proca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01806:Proca1 APN 11 78204911 missense probably damaging 0.99
IGL01905:Proca1 APN 11 78204890 missense probably damaging 0.98
R0398:Proca1 UTSW 11 78205268 missense probably benign 0.00
R0734:Proca1 UTSW 11 78201802 splice site probably benign
R0980:Proca1 UTSW 11 78204947 missense probably benign 0.00
R1899:Proca1 UTSW 11 78205021 missense probably damaging 0.99
R1900:Proca1 UTSW 11 78205021 missense probably damaging 0.99
R2183:Proca1 UTSW 11 78204149 missense possibly damaging 0.92
R2867:Proca1 UTSW 11 78204980 missense probably damaging 0.97
R2867:Proca1 UTSW 11 78204980 missense probably damaging 0.97
R4237:Proca1 UTSW 11 78204926 missense probably benign 0.22
R4687:Proca1 UTSW 11 78204898 missense probably damaging 0.97
R5299:Proca1 UTSW 11 78205252 missense probably damaging 0.99
R5318:Proca1 UTSW 11 78201857 missense possibly damaging 0.92
R5379:Proca1 UTSW 11 78205266 missense probably damaging 0.99
R5564:Proca1 UTSW 11 78201873 missense possibly damaging 0.81
R6592:Proca1 UTSW 11 78204953 missense probably benign 0.00
R6796:Proca1 UTSW 11 78194928 missense probably benign
R6894:Proca1 UTSW 11 78194787 unclassified probably benign
R7423:Proca1 UTSW 11 78194817 unclassified probably benign
R8110:Proca1 UTSW 11 78204911 missense probably damaging 0.99
R8952:Proca1 UTSW 11 78204947 missense probably benign 0.00
R8974:Proca1 UTSW 11 78205318 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GAAGAACCCGACTGACGCTTAGAC -3'
(R):5'- CCACCCTCAAGGTCAATGGAACTG -3'

Sequencing Primer
(F):5'- CGGGCTGGAAGACCTGAG -3'
(R):5'- CATTGGGCCAAGGGTTCTAC -3'
Posted On 2013-04-24