Incidental Mutation 'R5594:Birc7'
ID 437681
Institutional Source Beutler Lab
Gene Symbol Birc7
Ensembl Gene ENSMUSG00000038840
Gene Name baculoviral IAP repeat-containing 7
Synonyms ML-IAP, Livin, KIAP
MMRRC Submission 043146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R5594 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 180570816-180575803 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 180575129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103053] [ENSMUST00000108873] [ENSMUST00000108875] [ENSMUST00000108875] [ENSMUST00000148905] [ENSMUST00000151494]
AlphaFold A2AWP0
Predicted Effect probably benign
Transcript: ENSMUST00000103053
SMART Domains Protein: ENSMUSP00000099342
Gene: ENSMUSG00000027574

DomainStartEndE-ValueType
Pfam:NKAIN 1 206 4.3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108873
SMART Domains Protein: ENSMUSP00000104501
Gene: ENSMUSG00000027574

DomainStartEndE-ValueType
Pfam:NKAIN 1 180 2.9e-90 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108875
SMART Domains Protein: ENSMUSP00000104503
Gene: ENSMUSG00000038840

DomainStartEndE-ValueType
BIR 91 162 1.41e-32 SMART
low complexity region 227 238 N/A INTRINSIC
RING 239 272 1.65e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000108875
SMART Domains Protein: ENSMUSP00000104503
Gene: ENSMUSG00000038840

DomainStartEndE-ValueType
BIR 91 162 1.41e-32 SMART
low complexity region 227 238 N/A INTRINSIC
RING 239 272 1.65e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137859
Predicted Effect probably benign
Transcript: ENSMUST00000139929
SMART Domains Protein: ENSMUSP00000116965
Gene: ENSMUSG00000027574

DomainStartEndE-ValueType
Pfam:NKAIN 15 144 2.3e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148905
SMART Domains Protein: ENSMUSP00000119925
Gene: ENSMUSG00000027574

DomainStartEndE-ValueType
Pfam:NKAIN 1 66 1.4e-36 PFAM
Pfam:NKAIN 64 140 8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151494
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C T 11: 3,888,027 (GRCm39) V120I unknown Het
4931414P19Rik A G 14: 54,822,441 (GRCm39) Y399H probably damaging Het
Abca9 G T 11: 110,035,688 (GRCm39) P644Q probably damaging Het
Acly T C 11: 100,412,946 (GRCm39) probably null Het
Adamts14 A T 10: 61,062,880 (GRCm39) probably null Het
Ankdd1a T C 9: 65,409,523 (GRCm39) N471S probably damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Arhgef28 T C 13: 98,076,000 (GRCm39) T1345A probably benign Het
Arhgef40 T A 14: 52,233,614 (GRCm39) L820H probably damaging Het
Atp2b4 A G 1: 133,658,248 (GRCm39) V554A probably damaging Het
Ccdc80 C T 16: 44,936,626 (GRCm39) R684C probably benign Het
Cdc25b C A 2: 131,033,538 (GRCm39) P159Q probably damaging Het
Cdcp3 T A 7: 130,841,252 (GRCm39) D647E probably benign Het
Chek2 G T 5: 111,003,700 (GRCm39) probably null Het
Chil6 C T 3: 106,301,745 (GRCm39) probably null Het
Cr2 A G 1: 194,839,498 (GRCm39) I643T probably damaging Het
Cwf19l2 C A 9: 3,418,773 (GRCm39) Q187K probably benign Het
Cyth4 A G 15: 78,491,275 (GRCm39) probably null Het
Depdc5 A G 5: 33,058,834 (GRCm39) T268A possibly damaging Het
Dnah17 G T 11: 117,934,055 (GRCm39) probably null Het
Dnah3 T C 7: 119,570,844 (GRCm39) Y2210C possibly damaging Het
Elmod3 G A 6: 72,571,799 (GRCm39) probably benign Het
Eogt T A 6: 97,092,996 (GRCm39) T394S probably benign Het
Evi5 A G 5: 107,968,317 (GRCm39) V182A possibly damaging Het
Fbxo30 T C 10: 11,166,223 (GRCm39) I315T probably benign Het
Fibcd1 T C 2: 31,728,629 (GRCm39) N76S probably damaging Het
Gcc2 G T 10: 58,123,064 (GRCm39) R1190M probably damaging Het
Gfm2 T C 13: 97,301,546 (GRCm39) S450P probably damaging Het
Glg1 G A 8: 111,914,513 (GRCm39) R424C probably damaging Het
Gm11543 T A 11: 94,719,380 (GRCm39) noncoding transcript Het
Hhip G T 8: 80,723,492 (GRCm39) D387E probably damaging Het
Hif1a T A 12: 73,984,566 (GRCm39) Y46* probably null Het
Hivep3 G T 4: 119,980,245 (GRCm39) probably null Het
Kif13a T A 13: 46,906,338 (GRCm39) E535V probably damaging Het
Lrch3 T C 16: 32,734,554 (GRCm39) Y15H probably damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Lyst T A 13: 13,933,982 (GRCm39) V3560E probably benign Het
Megf11 T C 9: 64,593,755 (GRCm39) F613L probably damaging Het
Misp G A 10: 79,662,977 (GRCm39) V465M probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Ms4a6c T A 19: 11,455,537 (GRCm39) D115E probably benign Het
Msh6 A G 17: 88,293,497 (GRCm39) T751A probably benign Het
Ntrk3 T A 7: 78,101,647 (GRCm39) T429S probably benign Het
Oplah A C 15: 76,180,837 (GRCm39) *1289G probably null Het
Or14j7 T A 17: 38,234,502 (GRCm39) M15K probably benign Het
Or7e166 T C 9: 19,624,302 (GRCm39) Y60H probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhga6 A T 18: 37,841,581 (GRCm39) T434S probably benign Het
Pign A G 1: 105,574,594 (GRCm39) probably benign Het
Poteg A T 8: 27,937,996 (GRCm39) I51F probably benign Het
Prrc2c C A 1: 162,526,600 (GRCm39) V204F unknown Het
Rhbdd3 T C 11: 5,055,710 (GRCm39) S325P probably damaging Het
Rit1 T A 3: 88,636,444 (GRCm39) L116Q probably damaging Het
Rpl22 T A 4: 152,410,259 (GRCm39) probably benign Het
Rttn A G 18: 89,108,560 (GRCm39) E1588G possibly damaging Het
Sardh A G 2: 27,110,735 (GRCm39) F577S probably damaging Het
Slc12a7 T A 13: 73,933,258 (GRCm39) D105E probably benign Het
Slc22a23 T A 13: 34,489,240 (GRCm39) D215V probably damaging Het
Slc4a8 C A 15: 100,693,768 (GRCm39) P438T probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Stk19 C T 17: 35,039,538 (GRCm39) probably benign Het
Stx5a T C 19: 8,725,829 (GRCm39) I143T probably damaging Het
Tep1 T C 14: 51,067,339 (GRCm39) H2232R possibly damaging Het
Trmt9b A G 8: 36,979,452 (GRCm39) T352A probably benign Het
Ttc21b A G 2: 66,066,579 (GRCm39) I358T probably benign Het
Tuba8 A G 6: 121,202,863 (GRCm39) D392G possibly damaging Het
Vmn1r1 G A 1: 181,984,972 (GRCm39) P231L probably damaging Het
Zfp330 A G 8: 83,493,941 (GRCm39) W107R probably damaging Het
Zfp715 T A 7: 42,949,116 (GRCm39) Q281H possibly damaging Het
Zfp9 T C 6: 118,442,000 (GRCm39) T221A probably damaging Het
Zgpat T C 2: 181,007,420 (GRCm39) probably benign Het
Other mutations in Birc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02092:Birc7 APN 2 180,574,979 (GRCm39) missense probably benign 0.09
PIT4514001:Birc7 UTSW 2 180,573,099 (GRCm39) missense possibly damaging 0.96
R0427:Birc7 UTSW 2 180,571,307 (GRCm39) critical splice donor site probably null
R0626:Birc7 UTSW 2 180,573,098 (GRCm39) missense probably benign 0.01
R1597:Birc7 UTSW 2 180,570,974 (GRCm39) missense possibly damaging 0.83
R2115:Birc7 UTSW 2 180,572,642 (GRCm39) missense possibly damaging 0.94
R5557:Birc7 UTSW 2 180,574,772 (GRCm39) missense probably benign 0.00
R6325:Birc7 UTSW 2 180,571,243 (GRCm39) missense probably benign 0.00
R7459:Birc7 UTSW 2 180,571,150 (GRCm39) missense possibly damaging 0.74
R7947:Birc7 UTSW 2 180,575,103 (GRCm39) missense probably damaging 0.99
R8886:Birc7 UTSW 2 180,574,786 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTGCTTCTTGAGTCCCCAGGAG -3'
(R):5'- AAACTAGAGGTGTCCCCTAGC -3'

Sequencing Primer
(F):5'- TGTTCAGGAACAGCTGCGAC -3'
(R):5'- AGCCCGCTTTCCCTCTGAC -3'
Posted On 2016-10-26