Incidental Mutation 'R7166:Efcab11'
ID 557949
Institutional Source Beutler Lab
Gene Symbol Efcab11
Ensembl Gene ENSMUSG00000021176
Gene Name EF-hand calcium binding domain 11
Synonyms 2610110A13Rik, 2610021K21Rik
MMRRC Submission 045227-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7166 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 99683790-99849701 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99849614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 23 (M23K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046485] [ENSMUST00000137653] [ENSMUST00000153627] [ENSMUST00000220875] [ENSMUST00000223114]
AlphaFold Q9D0E5
Predicted Effect probably null
Transcript: ENSMUST00000046485
AA Change: M1K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044808
Gene: ENSMUSG00000021176
AA Change: M1K

DomainStartEndE-ValueType
EFh 22 50 4.67e-2 SMART
EFh 95 123 5.38e0 SMART
EFh 131 159 6.16e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137653
SMART Domains Protein: ENSMUSP00000123269
Gene: ENSMUSG00000021177

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153627
SMART Domains Protein: ENSMUSP00000118656
Gene: ENSMUSG00000021177

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
Pfam:Tyr-DNA_phospho 166 583 2.4e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220875
Predicted Effect
Predicted Effect probably null
Transcript: ENSMUST00000223114
AA Change: M1K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn T C 5: 88,615,387 (GRCm39) L272P possibly damaging Het
Ash2l C A 8: 26,317,348 (GRCm39) G335V probably damaging Het
Atp13a1 T A 8: 70,251,966 (GRCm39) probably null Het
Atp13a2 G A 4: 140,734,295 (GRCm39) R1139Q possibly damaging Het
Atxn2 T A 5: 121,934,460 (GRCm39) N886K possibly damaging Het
Celsr3 G T 9: 108,720,150 (GRCm39) C2512F probably damaging Het
Cfap221 A G 1: 119,875,843 (GRCm39) V449A probably benign Het
Cfhr2 A T 1: 139,758,839 (GRCm39) C70* probably null Het
Chfr C A 5: 110,306,671 (GRCm39) P472Q probably benign Het
Crybg2 G A 4: 133,788,193 (GRCm39) R22Q probably damaging Het
Eef2k T C 7: 120,483,995 (GRCm39) F244L probably damaging Het
Eif4a3l2 A G 6: 116,528,329 (GRCm39) I69V probably benign Het
Ercc8 T A 13: 108,305,967 (GRCm39) M114K possibly damaging Het
Fam217a T C 13: 35,094,298 (GRCm39) Y487C probably benign Het
Farsb T C 1: 78,447,821 (GRCm39) N205S probably benign Het
Glra1 A G 11: 55,405,904 (GRCm39) F370S probably benign Het
Gm12258 T A 11: 58,749,299 (GRCm39) M158K Het
Gm14305 T A 2: 176,412,736 (GRCm39) H209Q probably damaging Het
Gm4924 A T 10: 82,214,035 (GRCm39) Q611L unknown Het
H4c11 A G 13: 21,919,321 (GRCm39) H19R unknown Het
Haus6 T C 4: 86,501,924 (GRCm39) E649G possibly damaging Het
Hlcs C T 16: 94,063,585 (GRCm39) D345N possibly damaging Het
Htt C A 5: 35,010,238 (GRCm39) Q1564K probably benign Het
Itpr1 G A 6: 108,355,151 (GRCm39) V481I probably benign Het
Jak3 T C 8: 72,134,960 (GRCm39) I531T probably damaging Het
Kng1 T A 16: 22,898,428 (GRCm39) H609Q probably benign Het
Mdn1 T A 4: 32,746,446 (GRCm39) S4131T probably damaging Het
Npnt A G 3: 132,653,889 (GRCm39) S31P probably damaging Het
Or1r1 A T 11: 73,875,121 (GRCm39) F104L possibly damaging Het
Or4c100 A T 2: 88,355,990 (GRCm39) Q21L possibly damaging Het
Or8h8 T A 2: 86,753,092 (GRCm39) K261N probably damaging Het
Paxx A T 2: 25,350,238 (GRCm39) L123Q probably damaging Het
Prdm13 C T 4: 21,683,528 (GRCm39) R144Q unknown Het
Rab2b C A 14: 52,516,802 (GRCm39) probably benign Het
Rnf207 A G 4: 152,396,237 (GRCm39) I509T probably damaging Het
Ropn1l T C 15: 31,453,655 (GRCm39) Q12R Het
Ryr3 T G 2: 112,705,373 (GRCm39) Y847S probably damaging Het
Slc1a6 A T 10: 78,648,646 (GRCm39) T456S possibly damaging Het
Slc26a2 A T 18: 61,331,901 (GRCm39) M510K possibly damaging Het
Slc5a9 T C 4: 111,741,036 (GRCm39) T537A probably benign Het
Slc9b2 T C 3: 135,031,939 (GRCm39) Y132H unknown Het
Sltm T C 9: 70,492,132 (GRCm39) L725S probably damaging Het
Spz1 A G 13: 92,712,435 (GRCm39) C14R probably benign Het
Srrm4 T A 5: 116,609,301 (GRCm39) Q172L unknown Het
Synj2bp T C 12: 81,551,289 (GRCm39) D92G probably benign Het
Tmem169 A C 1: 72,340,229 (GRCm39) T220P probably benign Het
Ttn T A 2: 76,718,372 (GRCm39) I7270F unknown Het
Txndc16 T G 14: 45,420,611 (GRCm39) N137H probably benign Het
Ubr5 A G 15: 37,976,389 (GRCm39) Y2499H Het
Ugt2b38 T C 5: 87,558,305 (GRCm39) D452G probably damaging Het
Zfp12 T A 5: 143,231,257 (GRCm39) I560N possibly damaging Het
Zfp60 A G 7: 27,448,937 (GRCm39) K535R possibly damaging Het
Zfp960 T A 17: 17,308,761 (GRCm39) C492S probably damaging Het
Other mutations in Efcab11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02208:Efcab11 APN 12 99,820,861 (GRCm39) splice site probably benign
IGL02395:Efcab11 APN 12 99,820,868 (GRCm39) critical splice donor site probably null
taxi UTSW 12 99,849,674 (GRCm39) utr 5 prime probably benign
R0505:Efcab11 UTSW 12 99,685,294 (GRCm39) missense probably benign 0.13
R4915:Efcab11 UTSW 12 99,685,321 (GRCm39) missense probably damaging 1.00
R4917:Efcab11 UTSW 12 99,685,321 (GRCm39) missense probably damaging 1.00
R4918:Efcab11 UTSW 12 99,685,321 (GRCm39) missense probably damaging 1.00
R5418:Efcab11 UTSW 12 99,821,877 (GRCm39) missense possibly damaging 0.81
R6896:Efcab11 UTSW 12 99,849,674 (GRCm39) utr 5 prime probably benign
R7492:Efcab11 UTSW 12 99,844,660 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- AGGAGGTCGAGGTGATTATCC -3'
(R):5'- GCGCCTTTAACCAATGACAGTAC -3'

Sequencing Primer
(F):5'- CGAGGTGATTATCCGTGGACAG -3'
(R):5'- GTACGAAATCAACGCCAGTGGC -3'
Posted On 2019-06-26