Incidental Mutation 'R0331:Pef1'
ID 26037
Institutional Source Beutler Lab
Gene Symbol Pef1
Ensembl Gene ENSMUSG00000028779
Gene Name penta-EF hand domain containing 1
Synonyms 2600002E23Rik
MMRRC Submission 038540-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0331 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 130001349-130021927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130021241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 265 (D265V)
Ref Sequence ENSEMBL: ENSMUSP00000112638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030562] [ENSMUST00000030563] [ENSMUST00000118199] [ENSMUST00000119423] [ENSMUST00000120154] [ENSMUST00000164887]
AlphaFold Q8BFY6
Predicted Effect probably benign
Transcript: ENSMUST00000030562
SMART Domains Protein: ENSMUSP00000030562
Gene: ENSMUSG00000028778

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 8.8e-59 PFAM
low complexity region 406 415 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000030563
AA Change: D265V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030563
Gene: ENSMUSG00000028779
AA Change: D265V

DomainStartEndE-ValueType
low complexity region 11 101 N/A INTRINSIC
EFh 109 137 2.5e-2 SMART
EFh 146 174 1.23e1 SMART
EFh 176 204 4.42e-3 SMART
Blast:EFh 243 273 3e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000118199
AA Change: D265V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112638
Gene: ENSMUSG00000028779
AA Change: D265V

DomainStartEndE-ValueType
low complexity region 11 101 N/A INTRINSIC
EFh 109 137 2.5e-2 SMART
EFh 146 174 1.23e1 SMART
EFh 176 204 4.42e-3 SMART
Blast:EFh 243 273 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000119423
SMART Domains Protein: ENSMUSP00000112630
Gene: ENSMUSG00000028778

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 5.3e-56 PFAM
low complexity region 406 415 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120154
SMART Domains Protein: ENSMUSP00000113198
Gene: ENSMUSG00000028778

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 8.8e-59 PFAM
low complexity region 406 415 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164887
SMART Domains Protein: ENSMUSP00000127290
Gene: ENSMUSG00000028778

DomainStartEndE-ValueType
Pfam:7tm_1 63 358 8.8e-59 PFAM
low complexity region 406 415 N/A INTRINSIC
Meta Mutation Damage Score 0.6210 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.8%
  • 20x: 91.7%
Validation Efficiency 100% (81/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,956,021 (GRCm39) T79S probably benign Het
Abtb1 T C 6: 88,817,684 (GRCm39) probably benign Het
Acot12 G A 13: 91,908,183 (GRCm39) probably null Het
Adamts4 T A 1: 171,078,541 (GRCm39) S54T probably benign Het
Adgrl4 T C 3: 151,203,577 (GRCm39) S96P probably benign Het
Aip G T 19: 4,168,247 (GRCm39) T40K probably damaging Het
Anapc4 A G 5: 53,012,984 (GRCm39) probably benign Het
Asz1 A G 6: 18,103,618 (GRCm39) probably benign Het
Atf7ip A G 6: 136,538,161 (GRCm39) T465A possibly damaging Het
Atp11a C T 8: 12,866,953 (GRCm39) Q127* probably null Het
Axin1 A G 17: 26,362,081 (GRCm39) R142G probably damaging Het
Bcat1 T A 6: 144,993,040 (GRCm39) E86V probably benign Het
Brd4 G A 17: 32,421,489 (GRCm39) P749L probably benign Het
C1ra G A 6: 124,496,394 (GRCm39) probably null Het
Capza2 A T 6: 17,665,102 (GRCm39) N237I probably benign Het
Cd2ap A T 17: 43,116,192 (GRCm39) V556E probably benign Het
Cfap65 G A 1: 74,968,460 (GRCm39) P124L probably damaging Het
Cfap65 G T 1: 74,968,461 (GRCm39) P124T probably damaging Het
Cftr T C 6: 18,235,225 (GRCm39) V488A possibly damaging Het
Ckmt1 A T 2: 121,193,337 (GRCm39) probably null Het
Cmya5 T G 13: 93,280,911 (GRCm39) E35A possibly damaging Het
Col7a1 A G 9: 108,796,570 (GRCm39) probably benign Het
Crmp1 C T 5: 37,422,657 (GRCm39) L155F possibly damaging Het
Cyp2d10 T A 15: 82,291,227 (GRCm39) T33S probably benign Het
Dhdh T C 7: 45,137,544 (GRCm39) K48E probably benign Het
Dlst T C 12: 85,165,586 (GRCm39) V103A probably damaging Het
Dohh C T 10: 81,223,646 (GRCm39) T233I probably benign Het
Dvl2 C A 11: 69,897,043 (GRCm39) probably benign Het
Eipr1 C T 12: 28,914,703 (GRCm39) Q286* probably null Het
Enpp6 C A 8: 47,535,484 (GRCm39) T343K probably damaging Het
Fbxw11 T A 11: 32,661,895 (GRCm39) F112I probably damaging Het
Gdpd4 T A 7: 97,622,215 (GRCm39) N231K probably benign Het
Gm6370 A T 5: 146,430,576 (GRCm39) T254S probably benign Het
Hapln4 G T 8: 70,537,159 (GRCm39) Q31H probably damaging Het
Hic1 T A 11: 75,056,316 (GRCm39) T858S possibly damaging Het
Isg20l2 T C 3: 87,839,092 (GRCm39) L101P probably damaging Het
Itga10 T C 3: 96,559,799 (GRCm39) Y485H probably damaging Het
Itgal T A 7: 126,905,853 (GRCm39) probably null Het
Itln1 T C 1: 171,359,117 (GRCm39) N62S probably damaging Het
Kdm4b T C 17: 56,693,289 (GRCm39) probably benign Het
Lct T C 1: 128,226,479 (GRCm39) probably benign Het
Lman2 A T 13: 55,500,829 (GRCm39) H123Q probably damaging Het
Lztr1 T A 16: 17,342,101 (GRCm39) probably benign Het
Myo3b G T 2: 69,925,605 (GRCm39) G24V probably damaging Het
Nacad T A 11: 6,549,441 (GRCm39) Q1250L possibly damaging Het
Ncor2 A T 5: 125,161,981 (GRCm39) M431K unknown Het
Nek9 T A 12: 85,374,149 (GRCm39) probably benign Het
Neu1 C A 17: 35,153,146 (GRCm39) N255K possibly damaging Het
Nf2 T A 11: 4,744,914 (GRCm39) T75S probably benign Het
Nipal4 T A 11: 46,041,040 (GRCm39) D385V probably damaging Het
Olah T A 2: 3,343,511 (GRCm39) N245I probably damaging Het
Or5p54 G T 7: 107,554,077 (GRCm39) L76F probably benign Het
Pag1 T A 3: 9,767,030 (GRCm39) T90S probably benign Het
Pald1 A G 10: 61,176,708 (GRCm39) probably null Het
Parva A G 7: 112,144,005 (GRCm39) M98V probably benign Het
Paxbp1 T A 16: 90,834,255 (GRCm39) D177V possibly damaging Het
Paxip1 A G 5: 27,970,230 (GRCm39) I587T probably damaging Het
Pclo T C 5: 14,730,390 (GRCm39) probably benign Het
Pdgfra T A 5: 75,355,713 (GRCm39) D1074E probably damaging Het
Plekhh2 G A 17: 84,893,794 (GRCm39) E870K possibly damaging Het
Plscr4 G A 9: 92,364,695 (GRCm39) G40D probably damaging Het
Psg18 A G 7: 18,087,233 (GRCm39) Y142H probably benign Het
Ptchd3 A T 11: 121,733,017 (GRCm39) M636L probably benign Het
Rab2a A G 4: 8,572,559 (GRCm39) D51G probably benign Het
Rnf139 T A 15: 58,771,755 (GRCm39) D593E probably benign Het
Septin7 A G 9: 25,217,552 (GRCm39) N422S probably benign Het
Shprh T C 10: 11,069,914 (GRCm39) probably benign Het
Slc7a6os A G 8: 106,937,199 (GRCm39) I87T probably damaging Het
Slc7a7 A G 14: 54,615,381 (GRCm39) probably benign Het
Spc24 G T 9: 21,668,609 (GRCm39) N129K possibly damaging Het
Strip2 C T 6: 29,926,559 (GRCm39) T148I probably benign Het
Tmem150c A C 5: 100,234,132 (GRCm39) probably null Het
Trav13-5 A G 14: 54,033,205 (GRCm39) N38S probably benign Het
Ttn G T 2: 76,641,364 (GRCm39) Y11801* probably null Het
Usp37 A T 1: 74,493,223 (GRCm39) L688* probably null Het
Usp38 T C 8: 81,722,469 (GRCm39) I351V probably benign Het
Vav2 T A 2: 27,186,187 (GRCm39) M223L probably benign Het
Wdr36 A G 18: 32,985,968 (GRCm39) I557M possibly damaging Het
Wwc2 A T 8: 48,333,239 (GRCm39) M259K probably benign Het
Znfx1 G A 2: 166,888,898 (GRCm39) S770L probably benign Het
Other mutations in Pef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0358:Pef1 UTSW 4 130,021,180 (GRCm39) missense probably damaging 1.00
R1834:Pef1 UTSW 4 130,014,966 (GRCm39) nonsense probably null
R2421:Pef1 UTSW 4 130,021,110 (GRCm39) nonsense probably null
R7368:Pef1 UTSW 4 130,021,178 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTTCACGCAGCTCCTGGTTTC -3'
(R):5'- TAGGCAGCCAATGAGCACTTAGCAC -3'

Sequencing Primer
(F):5'- ATCAAGGTGTGTACCCAGCT -3'
(R):5'- TGAGCACTTAGCACTGGCATC -3'
Posted On 2013-04-16