Incidental Mutation 'R6960:Efcab12'
ID 557063
Institutional Source Beutler Lab
Gene Symbol Efcab12
Ensembl Gene ENSMUSG00000030321
Gene Name EF-hand calcium binding domain 12
Synonyms BC060267
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6960 (G1)
Quality Score 51.0072
Status Validated
Chromosome 6
Chromosomal Location 115787695-115815177 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 115815273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032468] [ENSMUST00000032469] [ENSMUST00000124531] [ENSMUST00000147282] [ENSMUST00000184428] [ENSMUST00000203643]
AlphaFold V9GXH0
Predicted Effect probably benign
Transcript: ENSMUST00000032468
SMART Domains Protein: ENSMUSP00000138850
Gene: ENSMUSG00000030321

DomainStartEndE-ValueType
SCOP:d1mr8a_ 302 344 1e-3 SMART
low complexity region 438 445 N/A INTRINSIC
low complexity region 566 578 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000032469
SMART Domains Protein: ENSMUSP00000032469
Gene: ENSMUSG00000030322

DomainStartEndE-ValueType
MBD 66 142 1.25e-29 SMART
low complexity region 178 196 N/A INTRINSIC
PDB:1NGN|A 400 554 1e-111 PDB
SCOP:d1keaa_ 405 545 1e-23 SMART
Blast:ENDO3c 439 514 2e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000124531
SMART Domains Protein: ENSMUSP00000139385
Gene: ENSMUSG00000030321

DomainStartEndE-ValueType
SCOP:d1mr8a_ 302 344 3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147282
SMART Domains Protein: ENSMUSP00000125619
Gene: ENSMUSG00000030322

DomainStartEndE-ValueType
MBD 45 121 1.25e-29 SMART
low complexity region 157 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184428
SMART Domains Protein: ENSMUSP00000139144
Gene: ENSMUSG00000030321

DomainStartEndE-ValueType
SCOP:d1mr8a_ 302 344 1e-3 SMART
low complexity region 438 445 N/A INTRINSIC
low complexity region 566 578 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203643
SMART Domains Protein: ENSMUSP00000144930
Gene: ENSMUSG00000030322

DomainStartEndE-ValueType
Pfam:HhH-GPD 56 168 2.7e-5 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably damaging Het
Other mutations in Efcab12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Efcab12 APN 6 115,800,625 (GRCm39) missense probably benign 0.00
IGL02748:Efcab12 APN 6 115,797,063 (GRCm39) missense probably damaging 0.97
IGL03148:Efcab12 APN 6 115,787,952 (GRCm39) missense probably damaging 1.00
R0218:Efcab12 UTSW 6 115,791,611 (GRCm39) splice site probably benign
R0366:Efcab12 UTSW 6 115,800,209 (GRCm39) splice site probably benign
R2847:Efcab12 UTSW 6 115,788,072 (GRCm39) missense probably damaging 0.97
R4674:Efcab12 UTSW 6 115,800,610 (GRCm39) missense probably damaging 0.99
R4707:Efcab12 UTSW 6 115,791,510 (GRCm39) missense possibly damaging 0.87
R5145:Efcab12 UTSW 6 115,800,238 (GRCm39) missense probably damaging 0.98
R5185:Efcab12 UTSW 6 115,800,451 (GRCm39) missense probably benign 0.00
R6168:Efcab12 UTSW 6 115,791,577 (GRCm39) missense probably damaging 0.97
R7187:Efcab12 UTSW 6 115,800,474 (GRCm39) missense not run
R7297:Efcab12 UTSW 6 115,787,997 (GRCm39) missense possibly damaging 0.85
R7324:Efcab12 UTSW 6 115,800,555 (GRCm39) missense probably benign 0.30
R7715:Efcab12 UTSW 6 115,800,504 (GRCm39) missense possibly damaging 0.85
R7996:Efcab12 UTSW 6 115,800,378 (GRCm39) missense probably benign 0.30
R8418:Efcab12 UTSW 6 115,799,076 (GRCm39) critical splice donor site probably null
R8527:Efcab12 UTSW 6 115,791,535 (GRCm39) missense probably benign 0.02
R8923:Efcab12 UTSW 6 115,787,982 (GRCm39) missense possibly damaging 0.58
R8924:Efcab12 UTSW 6 115,800,664 (GRCm39) missense probably benign 0.00
R9364:Efcab12 UTSW 6 115,814,975 (GRCm39) missense probably benign 0.00
R9433:Efcab12 UTSW 6 115,792,995 (GRCm39) missense probably benign 0.03
R9762:Efcab12 UTSW 6 115,800,331 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TCAATATAGAACGCATTGTTGCCC -3'
(R):5'- CTTCTTGCAAGTGGAAGCGC -3'

Sequencing Primer
(F):5'- TAGAACGCATTGTTGCCCAACTG -3'
(R):5'- CCAATCGGTGTAGGGCATCTATAGTC -3'
Posted On 2019-06-07