Incidental Mutation 'R0276:Efcab5'
ID 35396
Institutional Source Beutler Lab
Gene Symbol Efcab5
Ensembl Gene ENSMUSG00000050944
Gene Name EF-hand calcium binding domain 5
Synonyms 4930563A03Rik
MMRRC Submission 038498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R0276 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 76980741-77079794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77031749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 42 (R42W)
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: R178W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: R178W

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: R42W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: R42W

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 0.3850 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.2%
  • 20x: 93.8%
Validation Efficiency 98% (101/103)
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,865,772 (GRCm39) N109S possibly damaging Het
Adcy10 T A 1: 165,400,160 (GRCm39) M1523K possibly damaging Het
Agtpbp1 C T 13: 59,609,845 (GRCm39) S1095N possibly damaging Het
Ang2 C T 14: 51,432,975 (GRCm39) V136I probably damaging Het
Arhgap10 A T 8: 78,140,210 (GRCm39) M250K probably benign Het
Arhgap33 A T 7: 30,222,669 (GRCm39) W1088R probably benign Het
Arhgef15 T C 11: 68,844,298 (GRCm39) probably benign Het
Aspm T C 1: 139,406,209 (GRCm39) S1699P possibly damaging Het
Atp12a C A 14: 56,625,151 (GRCm39) D1014E probably damaging Het
Atp1a4 T A 1: 172,085,468 (GRCm39) K45M probably damaging Het
Atp8a1 A T 5: 67,944,016 (GRCm39) probably benign Het
Baiap3 A C 17: 25,462,661 (GRCm39) F1099C probably damaging Het
Bcas3 T A 11: 85,361,663 (GRCm39) probably null Het
Bms1 G A 6: 118,385,095 (GRCm39) T371M possibly damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Capn3 T C 2: 120,318,546 (GRCm39) probably benign Het
Ccdc180 A G 4: 45,923,534 (GRCm39) D1105G probably damaging Het
Ccdc33 G T 9: 57,965,675 (GRCm39) P364Q probably damaging Het
Clstn3 A G 6: 124,408,699 (GRCm39) probably benign Het
Cntrl A T 2: 35,041,744 (GRCm39) Y619F possibly damaging Het
Col12a1 A T 9: 79,538,023 (GRCm39) Y2514* probably null Het
Cpt1b T C 15: 89,304,162 (GRCm39) H503R probably benign Het
Crb1 T A 1: 139,251,073 (GRCm39) T293S possibly damaging Het
D130043K22Rik C T 13: 25,042,028 (GRCm39) T319I possibly damaging Het
Dnaaf10 T C 11: 17,179,821 (GRCm39) I274T probably benign Het
Dzip1l G A 9: 99,543,051 (GRCm39) R502Q probably benign Het
F2rl3 A G 8: 73,489,426 (GRCm39) T218A probably benign Het
Fam135a C T 1: 24,107,045 (GRCm39) R31H probably damaging Het
Fcer2a A T 8: 3,739,811 (GRCm39) N53K possibly damaging Het
Golgb1 A C 16: 36,734,238 (GRCm39) K1162Q probably damaging Het
Gpr137b A T 13: 13,542,160 (GRCm39) probably benign Het
Haspin A T 11: 73,027,313 (GRCm39) L592Q probably damaging Het
Helq A G 5: 100,938,013 (GRCm39) F478L probably damaging Het
Iho1 A T 9: 108,305,639 (GRCm39) M11K possibly damaging Het
Il17rb T A 14: 29,726,337 (GRCm39) T84S probably damaging Het
Itga4 T C 2: 79,151,837 (GRCm39) L880P probably damaging Het
Itih5 A G 2: 10,190,375 (GRCm39) I61V possibly damaging Het
Ivl G A 3: 92,478,821 (GRCm39) L415F unknown Het
Kif2a A G 13: 107,113,158 (GRCm39) probably benign Het
Kmt2d T C 15: 98,748,192 (GRCm39) probably benign Het
Lars2 A G 9: 123,267,186 (GRCm39) probably benign Het
Lilrb4a T C 10: 51,367,677 (GRCm39) V73A probably benign Het
Lratd2 G T 15: 60,695,523 (GRCm39) Y74* probably null Het
Lrrc8a A G 2: 30,146,800 (GRCm39) D538G possibly damaging Het
Lrrk1 G A 7: 65,946,011 (GRCm39) probably benign Het
Mc2r A T 18: 68,541,203 (GRCm39) I30K possibly damaging Het
Mybbp1a C A 11: 72,340,933 (GRCm39) probably null Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ncam2 A G 16: 81,314,517 (GRCm39) probably benign Het
Nlk T C 11: 78,462,301 (GRCm39) I509V probably benign Het
Nlrp2 A T 7: 5,331,108 (GRCm39) N429K probably benign Het
Nlrp9b A G 7: 19,762,423 (GRCm39) T247A probably benign Het
Noxo1 A T 17: 24,919,136 (GRCm39) probably null Het
Or1n1b A T 2: 36,780,035 (GRCm39) M275K probably benign Het
Or2ag2b A T 7: 106,417,904 (GRCm39) I205L probably benign Het
Or3a10 A G 11: 73,935,944 (GRCm39) I52T probably damaging Het
Or4c107 T A 2: 88,789,099 (GRCm39) C96* probably null Het
Or4m1 C A 14: 50,557,636 (GRCm39) A219S probably benign Het
Oxr1 T C 15: 41,683,458 (GRCm39) S294P probably damaging Het
Pfpl A G 19: 12,406,601 (GRCm39) Y284C probably damaging Het
Pi16 A T 17: 29,545,917 (GRCm39) T232S probably benign Het
Plcxd2 A T 16: 45,830,070 (GRCm39) N50K probably benign Het
Plekhn1 T A 4: 156,312,703 (GRCm39) N52Y probably damaging Het
Prl2c5 T C 13: 13,357,634 (GRCm39) probably benign Het
Prrc2b G A 2: 32,109,666 (GRCm39) V1080I probably damaging Het
Psg28 A T 7: 18,164,321 (GRCm39) N130K probably benign Het
Psme4 C A 11: 30,761,980 (GRCm39) T440K probably damaging Het
Ptcd2 T C 13: 99,458,104 (GRCm39) K296E probably benign Het
Ptprq T C 10: 107,378,596 (GRCm39) probably null Het
Rab5b A C 10: 128,522,615 (GRCm39) probably null Het
Rft1 T A 14: 30,412,540 (GRCm39) S534T probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rsu1 A T 2: 13,174,946 (GRCm39) probably benign Het
Senp6 A G 9: 80,044,029 (GRCm39) M887V probably benign Het
Sgcz T A 8: 38,420,073 (GRCm39) M60L probably benign Het
Siglec1 G A 2: 130,925,861 (GRCm39) Q282* probably null Het
Sipa1l2 T C 8: 126,148,679 (GRCm39) T1655A probably damaging Het
Slc28a2b T A 2: 122,352,409 (GRCm39) S389T probably damaging Het
Slc43a3 G A 2: 84,768,007 (GRCm39) probably benign Het
Snx29 T C 16: 11,556,237 (GRCm39) V756A probably benign Het
Spta1 T A 1: 174,045,460 (GRCm39) H1539Q probably damaging Het
Stk3 A C 15: 35,099,615 (GRCm39) S104A probably damaging Het
Stk38 C A 17: 29,211,390 (GRCm39) probably null Het
Stx6 T C 1: 155,049,909 (GRCm39) probably benign Het
Thbs4 G A 13: 92,912,040 (GRCm39) T230I probably benign Het
Thrsp A G 7: 97,066,709 (GRCm39) M1T probably null Het
Tmem63b A T 17: 45,986,299 (GRCm39) probably benign Het
Top2a A G 11: 98,900,733 (GRCm39) probably benign Het
Tpd52l2 T C 2: 181,143,852 (GRCm39) probably null Het
Trak1 A G 9: 121,283,404 (GRCm39) E390G probably damaging Het
Trappc3 T A 4: 126,167,745 (GRCm39) D101E possibly damaging Het
Trhr A G 15: 44,060,482 (GRCm39) M1V probably null Het
Triobp T A 15: 78,857,876 (GRCm39) I1159K probably benign Het
Unc45a A G 7: 79,976,045 (GRCm39) probably benign Het
Usb1 A G 8: 96,060,085 (GRCm39) D12G probably damaging Het
Ushbp1 C T 8: 71,847,293 (GRCm39) C113Y possibly damaging Het
Vim A G 2: 13,579,670 (GRCm39) K143R probably benign Het
Vmn2r75 T C 7: 85,797,515 (GRCm39) K766R probably benign Het
Xpo5 T G 17: 46,552,433 (GRCm39) C1089G probably damaging 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 77,020,702 (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
R3713:Efcab5 UTSW 11 77,007,008 (GRCm39) missense probably damaging 1.00
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'- TGTCATTGGACTACAACACCCAGC -3'
(R):5'- TTCAACAAGTCGTGCCAGTCCC -3'

Sequencing Primer
(F):5'- AGCTTCAGCTCCAGGACATTC -3'
(R):5'- CCTACGGGCAAGATATAGCTTC -3'
Posted On 2013-05-09