Incidental Mutation 'R7441:Efhb'
ID 576985
Institutional Source Beutler Lab
Gene Symbol Efhb
Ensembl Gene ENSMUSG00000023931
Gene Name EF hand domain family, member B
Synonyms 4921525D22Rik
MMRRC Submission 045517-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R7441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 53705917-53770349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53708549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 707 (I707N)
Ref Sequence ENSEMBL: ENSMUSP00000024725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024725]
AlphaFold Q8CDU5
Predicted Effect possibly damaging
Transcript: ENSMUST00000024725
AA Change: I707N

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: I707N

DomainStartEndE-ValueType
low complexity region 565 574 N/A INTRINSIC
EFh 585 613 2.14e-1 SMART
EFh 621 649 1.98e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,845 (GRCm39) S278A possibly damaging Het
Adamts20 T C 15: 94,251,554 (GRCm39) D411G probably damaging Het
Adgrl3 A G 5: 81,871,987 (GRCm39) I894V possibly damaging Het
Adprhl1 C T 8: 13,273,069 (GRCm39) V1230I probably benign Het
Agpat1 T A 17: 34,829,883 (GRCm39) Y77N probably damaging Het
Anpep A G 7: 79,477,392 (GRCm39) V725A possibly damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arhgef2 A G 3: 88,551,262 (GRCm39) R808G probably damaging Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
B3galnt2 G A 13: 14,169,070 (GRCm39) V368M probably benign Het
Bahcc1 T C 11: 120,177,132 (GRCm39) S2007P probably damaging Het
Cyfip2 A T 11: 46,087,254 (GRCm39) I1212N possibly damaging Het
Dnajc16 A T 4: 141,491,124 (GRCm39) D675E probably damaging Het
Dram2 T C 3: 106,462,503 (GRCm39) F4L probably damaging Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Eif2ak4 A G 2: 118,302,377 (GRCm39) T1555A probably benign Het
Erc1 G A 6: 119,801,912 (GRCm39) T35I possibly damaging Het
Esr2 C A 12: 76,188,168 (GRCm39) M363I probably benign Het
Etl4 A T 2: 20,749,000 (GRCm39) N446I possibly damaging Het
Evpl T A 11: 116,113,782 (GRCm39) K1303* probably null Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fam186b A G 15: 99,177,970 (GRCm39) L452P probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gm8267 T A 14: 44,960,397 (GRCm39) D116V probably damaging Het
Gtf3c3 G A 1: 54,459,607 (GRCm39) T385M probably benign Het
Iqgap2 C A 13: 95,764,584 (GRCm39) M1553I probably benign Het
Kcnk1 G T 8: 126,722,307 (GRCm39) G37C probably damaging Het
Kifc3 T C 8: 95,864,615 (GRCm39) M32V probably benign Het
Krt81 C A 15: 101,359,251 (GRCm39) K222N possibly damaging Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Mybbp1a T A 11: 72,342,101 (GRCm39) V1279E probably benign Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Or11g26 A T 14: 50,752,853 (GRCm39) Y64F probably damaging Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pramel12 A G 4: 143,145,410 (GRCm39) Y293C probably benign Het
Ptpn18 T C 1: 34,512,416 (GRCm39) V407A probably benign Het
Ptpn9 T A 9: 56,934,717 (GRCm39) Y160* probably null Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Scn11a C T 9: 119,587,692 (GRCm39) V1351I probably benign Het
Slc26a9 A G 1: 131,690,556 (GRCm39) Y520C probably damaging Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Timd5 G A 11: 46,419,382 (GRCm39) W66* probably null Het
Upf2 A T 2: 6,023,743 (GRCm39) I698F unknown Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Zfp426 T C 9: 20,382,147 (GRCm39) E280G possibly damaging Het
Zfp810 C A 9: 22,190,568 (GRCm39) E78* probably null Het
Zfp937 GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT G 2: 150,080,630 (GRCm39) probably null Het
Other mutations in Efhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Efhb APN 17 53,769,481 (GRCm39) missense probably damaging 1.00
IGL00990:Efhb APN 17 53,769,649 (GRCm39) missense possibly damaging 0.86
IGL02041:Efhb APN 17 53,733,287 (GRCm39) missense probably damaging 1.00
IGL02247:Efhb APN 17 53,708,652 (GRCm39) missense probably benign 0.00
IGL02637:Efhb APN 17 53,756,580 (GRCm39) missense probably benign 0.26
IGL02704:Efhb APN 17 53,733,297 (GRCm39) missense probably damaging 1.00
IGL03083:Efhb APN 17 53,706,087 (GRCm39) missense probably damaging 1.00
IGL03090:Efhb APN 17 53,769,958 (GRCm39) missense probably benign 0.01
IGL03221:Efhb APN 17 53,706,014 (GRCm39) missense probably damaging 1.00
PIT4531001:Efhb UTSW 17 53,752,803 (GRCm39) missense probably damaging 1.00
R0632:Efhb UTSW 17 53,720,487 (GRCm39) splice site probably benign
R1234:Efhb UTSW 17 53,758,615 (GRCm39) nonsense probably null
R1466:Efhb UTSW 17 53,744,206 (GRCm39) missense probably damaging 0.99
R1466:Efhb UTSW 17 53,744,206 (GRCm39) missense probably damaging 0.99
R1471:Efhb UTSW 17 53,706,140 (GRCm39) missense possibly damaging 0.46
R1624:Efhb UTSW 17 53,733,306 (GRCm39) missense probably damaging 1.00
R2019:Efhb UTSW 17 53,708,505 (GRCm39) missense probably damaging 1.00
R2085:Efhb UTSW 17 53,733,937 (GRCm39) critical splice donor site probably null
R2226:Efhb UTSW 17 53,769,457 (GRCm39) critical splice donor site probably null
R2415:Efhb UTSW 17 53,770,124 (GRCm39) missense probably benign 0.01
R3848:Efhb UTSW 17 53,734,024 (GRCm39) splice site probably benign
R3858:Efhb UTSW 17 53,769,808 (GRCm39) missense possibly damaging 0.61
R4581:Efhb UTSW 17 53,733,303 (GRCm39) missense probably damaging 1.00
R4712:Efhb UTSW 17 53,758,697 (GRCm39) missense probably damaging 1.00
R4731:Efhb UTSW 17 53,733,272 (GRCm39) missense probably damaging 1.00
R4732:Efhb UTSW 17 53,733,272 (GRCm39) missense probably damaging 1.00
R4733:Efhb UTSW 17 53,733,272 (GRCm39) missense probably damaging 1.00
R5375:Efhb UTSW 17 53,708,654 (GRCm39) missense possibly damaging 0.93
R5886:Efhb UTSW 17 53,758,582 (GRCm39) missense probably benign 0.42
R6054:Efhb UTSW 17 53,706,027 (GRCm39) missense possibly damaging 0.90
R6195:Efhb UTSW 17 53,769,580 (GRCm39) missense possibly damaging 0.62
R6233:Efhb UTSW 17 53,769,580 (GRCm39) missense possibly damaging 0.62
R6450:Efhb UTSW 17 53,759,632 (GRCm39) missense possibly damaging 0.77
R6550:Efhb UTSW 17 53,728,968 (GRCm39) missense probably benign 0.06
R6701:Efhb UTSW 17 53,706,091 (GRCm39) missense probably benign 0.41
R6967:Efhb UTSW 17 53,770,196 (GRCm39) missense probably benign 0.03
R7157:Efhb UTSW 17 53,707,928 (GRCm39) missense probably damaging 1.00
R7694:Efhb UTSW 17 53,707,836 (GRCm39) missense probably damaging 0.99
R8044:Efhb UTSW 17 53,706,143 (GRCm39) missense probably benign 0.41
R8176:Efhb UTSW 17 53,707,874 (GRCm39) missense probably damaging 1.00
R8309:Efhb UTSW 17 53,756,563 (GRCm39) missense probably damaging 0.99
R8311:Efhb UTSW 17 53,720,489 (GRCm39) critical splice donor site probably null
R8821:Efhb UTSW 17 53,707,772 (GRCm39) critical splice donor site probably benign
R8882:Efhb UTSW 17 53,769,712 (GRCm39) missense probably damaging 1.00
R9146:Efhb UTSW 17 53,769,644 (GRCm39) missense probably benign 0.00
R9211:Efhb UTSW 17 53,756,507 (GRCm39) missense probably damaging 0.96
R9760:Efhb UTSW 17 53,770,298 (GRCm39) missense probably damaging 0.96
RF003:Efhb UTSW 17 53,707,919 (GRCm39) missense probably damaging 1.00
RF012:Efhb UTSW 17 53,720,545 (GRCm39) missense probably damaging 0.97
Z1177:Efhb UTSW 17 53,744,211 (GRCm39) missense probably benign 0.26
Z1177:Efhb UTSW 17 53,744,154 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TCTAGAGTCAGATGCAGAGAGC -3'
(R):5'- ATCCAGCTTGTTACAGAGCACC -3'

Sequencing Primer
(F):5'- AGCAACTAGGGACGCTGC -3'
(R):5'- AAGAACTGACATCTTCCTGTGC -3'
Posted On 2019-10-07