Incidental Mutation 'R3713:Efcab5'
ID 259761
Institutional Source Beutler Lab
Gene Symbol Efcab5
Ensembl Gene ENSMUSG00000050944
Gene Name EF-hand calcium binding domain 5
Synonyms 4930563A03Rik
MMRRC Submission 040706-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R3713 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 76980741-77079794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77007008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 872 (L872Q)
Ref Sequence ENSEMBL: ENSMUSP00000118152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108400] [ENSMUST00000130901]
AlphaFold A0JP43
Predicted Effect probably damaging
Transcript: ENSMUST00000108400
AA Change: L1008Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: L1008Q

DomainStartEndE-ValueType
low complexity region 71 84 N/A INTRINSIC
low complexity region 210 219 N/A INTRINSIC
internal_repeat_1 250 352 2.42e-20 PROSPERO
internal_repeat_1 354 452 2.42e-20 PROSPERO
low complexity region 498 513 N/A INTRINSIC
coiled coil region 749 776 N/A INTRINSIC
GAF 877 1066 1.78e-2 SMART
low complexity region 1235 1245 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130901
AA Change: L872Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: L872Q

DomainStartEndE-ValueType
low complexity region 74 83 N/A INTRINSIC
internal_repeat_1 114 216 1.89e-19 PROSPERO
internal_repeat_1 218 316 1.89e-19 PROSPERO
low complexity region 362 377 N/A INTRINSIC
coiled coil region 613 640 N/A INTRINSIC
GAF 741 930 1.78e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148985
Meta Mutation Damage Score 0.4877 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T C 16: 88,424,081 (GRCm39) M137V probably benign Het
Aak1 T A 6: 86,932,172 (GRCm39) I381N probably benign Het
Abcd4 C T 12: 84,658,533 (GRCm39) M223I probably benign Het
Adgrf2 A G 17: 43,023,979 (GRCm39) V164A probably damaging Het
Ahdc1 G A 4: 132,793,297 (GRCm39) A1513T possibly damaging Het
Akap13 T C 7: 75,235,929 (GRCm39) M168T probably damaging Het
Aox1 C T 1: 58,095,374 (GRCm39) T196I probably benign Het
Aqr A G 2: 113,949,150 (GRCm39) probably benign Het
Astn1 A G 1: 158,495,102 (GRCm39) E1042G possibly damaging Het
Azi2 A G 9: 117,876,508 (GRCm39) D8G possibly damaging Het
Bcam T C 7: 19,498,118 (GRCm39) T302A probably benign Het
Cct6b A T 11: 82,651,183 (GRCm39) I110N probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Ceacam5 G A 7: 17,493,263 (GRCm39) S762N possibly damaging Het
Cecr2 T C 6: 120,735,221 (GRCm39) L819P probably damaging Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Chd2 A G 7: 73,121,538 (GRCm39) probably benign Het
Col7a1 G T 9: 108,793,508 (GRCm39) G1357* probably null Het
Cux1 A G 5: 136,594,397 (GRCm39) probably benign Het
Cwh43 A T 5: 73,595,835 (GRCm39) I535F probably damaging Het
Dexi A T 16: 10,360,553 (GRCm39) M1K probably null Het
Dnah12 T C 14: 26,534,747 (GRCm39) V2081A probably benign Het
Enpp7 A G 11: 118,881,344 (GRCm39) Y163C probably damaging Het
Fam221a T C 6: 49,349,548 (GRCm39) Y38H probably damaging Het
Foxred1 A G 9: 35,122,186 (GRCm39) M1T probably null Het
Fscn3 C T 6: 28,428,091 (GRCm39) T26I possibly damaging Het
Galp A T 7: 6,216,836 (GRCm39) D72V probably damaging Het
Gm9843 A G 16: 76,200,419 (GRCm39) noncoding transcript Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Lmbrd1 T C 1: 24,732,076 (GRCm39) Y98H probably damaging Het
Lrrc63 T G 14: 75,344,776 (GRCm39) Y437S probably benign Het
Macc1 A G 12: 119,410,576 (GRCm39) E448G probably benign Het
Madcam1 A G 10: 79,504,194 (GRCm39) H404R probably benign Het
Mink1 G T 11: 70,499,776 (GRCm39) R773L possibly damaging Het
Mroh2b A G 15: 4,973,131 (GRCm39) I1045V probably benign Het
Mroh3 T C 1: 136,113,714 (GRCm39) T692A probably benign Het
Myo15a A T 11: 60,370,057 (GRCm39) E939V possibly damaging Het
Naip2 A G 13: 100,298,410 (GRCm39) F542S probably damaging Het
Napsa A G 7: 44,230,852 (GRCm39) Y73C probably damaging Het
Ndst4 A T 3: 125,355,154 (GRCm39) H354L possibly damaging Het
Neil1 A T 9: 57,054,254 (GRCm39) V22E probably damaging Het
Nol4 T C 18: 23,172,994 (GRCm39) I36V probably damaging Het
Nprl3 G A 11: 32,205,464 (GRCm39) T111I probably damaging Het
Or12k8 A G 2: 36,975,517 (GRCm39) M81T possibly damaging Het
Or1e26 A T 11: 73,479,731 (GRCm39) Y278N probably damaging Het
Or4p22 C A 2: 88,317,787 (GRCm39) T237N probably damaging Het
Pald1 G A 10: 61,178,144 (GRCm39) T624I possibly damaging Het
Pcdhb13 C T 18: 37,576,786 (GRCm39) P388L probably damaging Het
Pcdhga6 T C 18: 37,840,976 (GRCm39) V232A probably damaging Het
Pde6b A G 5: 108,570,928 (GRCm39) I388V probably damaging Het
Phactr2 C A 10: 13,264,476 (GRCm39) probably benign Het
Prdx5 T C 19: 6,885,477 (GRCm39) D56G probably damaging Het
Ptprh A T 7: 4,574,969 (GRCm39) I350N probably damaging Het
Rangap1 C A 15: 81,594,661 (GRCm39) E389D probably benign Het
Reln A G 5: 22,109,732 (GRCm39) V3126A probably damaging Het
Rpl21 G A 5: 146,771,847 (GRCm39) G59S possibly damaging Het
Rsph6a G A 7: 18,791,475 (GRCm39) V215M probably damaging Het
Smcp T C 3: 92,491,431 (GRCm39) K139E unknown Het
Stag1 A G 9: 100,771,671 (GRCm39) T699A probably benign Het
Tars3 G A 7: 65,338,700 (GRCm39) probably null Het
Tle1 G T 4: 72,044,659 (GRCm39) H459Q possibly damaging Het
Ttn G A 2: 76,561,363 (GRCm39) P27302S probably damaging Het
Ttn C T 2: 76,571,610 (GRCm39) V26428I probably damaging Het
Usp53 T C 3: 122,742,968 (GRCm39) E656G probably benign Het
Vmn1r218 A T 13: 23,321,081 (GRCm39) N63Y probably damaging Het
Vmn1r79 A G 7: 11,910,139 (GRCm39) N40S possibly damaging Het
Wdr35 A G 12: 9,077,648 (GRCm39) D1107G possibly damaging Het
Zfp101 A G 17: 33,600,880 (GRCm39) M292T probably benign Het
Zfp108 T A 7: 23,961,270 (GRCm39) C620* probably null Het
Zscan4b T C 7: 10,635,818 (GRCm39) T170A probably benign Het
Other mutations in Efcab5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Efcab5 APN 11 77,027,862 (GRCm39) missense probably benign 0.04
IGL01343:Efcab5 APN 11 77,020,756 (GRCm39) missense probably damaging 1.00
IGL02190:Efcab5 APN 11 77,012,140 (GRCm39) missense probably benign 0.38
IGL02270:Efcab5 APN 11 76,995,139 (GRCm39) missense probably damaging 0.97
IGL02572:Efcab5 APN 11 77,028,714 (GRCm39) nonsense probably null
IGL02653:Efcab5 APN 11 77,022,848 (GRCm39) missense probably damaging 0.99
IGL02818:Efcab5 APN 11 76,996,174 (GRCm39) missense probably damaging 0.99
IGL03068:Efcab5 APN 11 76,994,927 (GRCm39) missense probably benign
IGL03222:Efcab5 APN 11 77,028,193 (GRCm39) missense probably benign 0.40
IGL03226:Efcab5 APN 11 77,028,501 (GRCm39) missense possibly damaging 0.92
IGL03257:Efcab5 APN 11 77,079,596 (GRCm39) missense probably damaging 0.99
PIT4131001:Efcab5 UTSW 11 77,028,517 (GRCm39)
PIT4418001:Efcab5 UTSW 11 77,022,877 (GRCm39) missense possibly damaging 0.89
R0276:Efcab5 UTSW 11 77,031,749 (GRCm39) missense probably damaging 1.00
R0276:Efcab5 UTSW 11 77,020,702 (GRCm39) missense probably damaging 1.00
R0277:Efcab5 UTSW 11 77,031,749 (GRCm39) missense probably damaging 1.00
R0284:Efcab5 UTSW 11 76,994,353 (GRCm39) intron probably benign
R0386:Efcab5 UTSW 11 77,063,204 (GRCm39) missense probably benign 0.30
R0386:Efcab5 UTSW 11 77,031,749 (GRCm39) missense probably damaging 1.00
R0966:Efcab5 UTSW 11 77,031,749 (GRCm39) missense probably damaging 1.00
R0968:Efcab5 UTSW 11 77,031,749 (GRCm39) missense probably damaging 1.00
R1433:Efcab5 UTSW 11 76,996,204 (GRCm39) missense probably benign 0.09
R1673:Efcab5 UTSW 11 77,042,679 (GRCm39) missense probably damaging 0.99
R1842:Efcab5 UTSW 11 77,025,701 (GRCm39) missense probably benign 0.00
R1848:Efcab5 UTSW 11 76,994,132 (GRCm39) missense probably damaging 1.00
R2069:Efcab5 UTSW 11 77,063,147 (GRCm39) missense probably benign 0.06
R4012:Efcab5 UTSW 11 77,008,656 (GRCm39) missense probably damaging 0.98
R4020:Efcab5 UTSW 11 76,994,930 (GRCm39) missense probably benign 0.33
R4391:Efcab5 UTSW 11 76,981,284 (GRCm39) missense probably damaging 0.99
R4392:Efcab5 UTSW 11 76,981,284 (GRCm39) missense probably damaging 0.99
R4692:Efcab5 UTSW 11 77,004,507 (GRCm39) missense probably damaging 1.00
R4929:Efcab5 UTSW 11 76,994,209 (GRCm39) missense probably benign 0.36
R4985:Efcab5 UTSW 11 77,029,055 (GRCm39) missense probably damaging 0.98
R4988:Efcab5 UTSW 11 77,028,078 (GRCm39) missense probably damaging 1.00
R5246:Efcab5 UTSW 11 77,079,671 (GRCm39) missense probably damaging 1.00
R5260:Efcab5 UTSW 11 77,028,477 (GRCm39) missense possibly damaging 0.92
R5387:Efcab5 UTSW 11 77,025,668 (GRCm39) missense possibly damaging 0.93
R5516:Efcab5 UTSW 11 77,079,615 (GRCm39) missense possibly damaging 0.62
R5535:Efcab5 UTSW 11 77,042,747 (GRCm39) missense probably damaging 1.00
R5694:Efcab5 UTSW 11 77,079,701 (GRCm39) missense probably benign 0.09
R5922:Efcab5 UTSW 11 77,079,570 (GRCm39) missense probably benign 0.44
R6030:Efcab5 UTSW 11 77,012,088 (GRCm39) missense probably damaging 1.00
R6030:Efcab5 UTSW 11 77,012,088 (GRCm39) missense probably damaging 1.00
R6183:Efcab5 UTSW 11 77,028,084 (GRCm39) missense probably benign 0.04
R6437:Efcab5 UTSW 11 77,028,728 (GRCm39) missense probably benign 0.25
R6442:Efcab5 UTSW 11 76,996,260 (GRCm39) nonsense probably null
R6592:Efcab5 UTSW 11 77,004,436 (GRCm39) missense possibly damaging 0.90
R6769:Efcab5 UTSW 11 76,996,258 (GRCm39) missense probably damaging 0.98
R7257:Efcab5 UTSW 11 77,028,605 (GRCm39) missense probably damaging 0.99
R7285:Efcab5 UTSW 11 77,029,041 (GRCm39) missense possibly damaging 0.49
R7285:Efcab5 UTSW 11 77,028,170 (GRCm39) missense probably benign
R7350:Efcab5 UTSW 11 77,028,387 (GRCm39) missense probably benign 0.05
R7369:Efcab5 UTSW 11 77,008,661 (GRCm39) missense possibly damaging 0.60
R7760:Efcab5 UTSW 11 77,042,752 (GRCm39) missense probably benign 0.31
R8213:Efcab5 UTSW 11 77,006,897 (GRCm39) missense probably damaging 1.00
R8690:Efcab5 UTSW 11 76,994,115 (GRCm39) missense probably damaging 0.98
R9294:Efcab5 UTSW 11 77,012,064 (GRCm39) missense probably benign 0.03
R9310:Efcab5 UTSW 11 77,004,531 (GRCm39) missense probably benign 0.23
R9324:Efcab5 UTSW 11 77,004,546 (GRCm39) missense possibly damaging 0.95
R9404:Efcab5 UTSW 11 77,022,934 (GRCm39) missense probably damaging 0.99
R9405:Efcab5 UTSW 11 77,022,934 (GRCm39) missense probably damaging 0.99
R9407:Efcab5 UTSW 11 77,022,934 (GRCm39) missense probably damaging 0.99
R9509:Efcab5 UTSW 11 76,994,977 (GRCm39) missense possibly damaging 0.94
R9562:Efcab5 UTSW 11 77,022,934 (GRCm39) missense probably damaging 0.99
R9651:Efcab5 UTSW 11 77,022,934 (GRCm39) missense probably damaging 0.99
R9748:Efcab5 UTSW 11 77,007,022 (GRCm39) nonsense probably null
X0061:Efcab5 UTSW 11 77,007,060 (GRCm39) missense probably damaging 1.00
Z1176:Efcab5 UTSW 11 77,022,965 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCCAGGGTTGACTTTGAAGAC -3'
(R):5'- TTAACAAGTGATCCACCTCTCCTAC -3'

Sequencing Primer
(F):5'- CCAGGGTTGACTTTGAAGACATACAG -3'
(R):5'- GTGATCCACCTCTCCTACATATAATG -3'
Posted On 2015-01-23