Incidental Mutation 'R7947:Birc7'
ID 649383
Institutional Source Beutler Lab
Gene Symbol Birc7
Ensembl Gene ENSMUSG00000038840
Gene Name baculoviral IAP repeat-containing 7
Synonyms ML-IAP, Livin, KIAP
MMRRC Submission 045992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R7947 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 180570816-180575803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 180575103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 280 (V280L)
Ref Sequence ENSEMBL: ENSMUSP00000104503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103053] [ENSMUST00000108873] [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 damaging
Transcript: ENSMUST00000108875
AA Change: V280L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104503
Gene: ENSMUSG00000038840
AA Change: V280L

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (60/61)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A G 16: 88,555,938 (GRCm39) T51A probably benign Het
Abcc8 A G 7: 45,754,886 (GRCm39) probably null Het
Accs A T 2: 93,674,602 (GRCm39) M123K probably damaging Het
Ace G A 11: 105,863,880 (GRCm39) G443S possibly damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Arhgap25 T C 6: 87,440,069 (GRCm39) D526G probably benign Het
Arhgef18 T C 8: 3,482,775 (GRCm39) L160P probably damaging Het
Arnt T G 3: 95,381,837 (GRCm39) probably null Het
Art3 A G 5: 92,540,359 (GRCm39) N34S possibly damaging Het
Avl9 A T 6: 56,700,526 (GRCm39) E53D possibly damaging Het
AW209491 A T 13: 14,811,447 (GRCm39) E100V probably benign Het
Axin2 T C 11: 108,814,529 (GRCm39) I139T probably damaging Het
Bmal1 T C 7: 112,886,353 (GRCm39) Y137H probably damaging Het
C1ra A G 6: 124,494,338 (GRCm39) N262D probably benign Het
Cacna1g A G 11: 94,348,001 (GRCm39) F696L probably benign Het
Casp14 T A 10: 78,550,079 (GRCm39) probably null Het
Ciao2a A G 9: 66,045,684 (GRCm39) I151V probably benign Het
Crlf1 T C 8: 70,951,862 (GRCm39) Y176H probably damaging Het
Dnajb4 A T 3: 151,892,468 (GRCm39) S122T probably benign Het
Dthd1 G A 5: 62,971,653 (GRCm39) D159N possibly damaging Het
Erich6 A T 3: 58,528,699 (GRCm39) I517N possibly damaging Het
Fam118b T A 9: 35,129,239 (GRCm39) H343L probably benign Het
Fat2 T A 11: 55,178,560 (GRCm39) D1500V probably damaging Het
Fcgbp T C 7: 27,803,595 (GRCm39) probably null Het
Fgfrl1 A G 5: 108,853,142 (GRCm39) D255G probably damaging Het
Gm9611 G A 14: 42,118,087 (GRCm39) Q82* probably null Het
Ifit3 G T 19: 34,565,359 (GRCm39) E302* probably null Het
Igkv3-9 G A 6: 70,565,737 (GRCm39) C112Y probably damaging Het
Ints4 A G 7: 97,148,792 (GRCm39) T233A probably benign Het
Khnyn A T 14: 56,125,059 (GRCm39) S438C probably damaging Het
Kifc1 T C 17: 34,102,849 (GRCm39) R192G probably benign Het
Kntc1 T C 5: 123,919,951 (GRCm39) S98P unknown Het
Krt1c A T 15: 101,724,769 (GRCm39) D280E probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Macf1 T C 4: 123,295,200 (GRCm39) I5344V probably damaging Het
Mcf2l A T 8: 13,053,529 (GRCm39) probably null Het
Mms22l A C 4: 24,505,373 (GRCm39) H211P probably damaging Het
Nipsnap1 A G 11: 4,839,145 (GRCm39) R163G possibly damaging Het
Nusap1 A G 2: 119,477,616 (GRCm39) N375S possibly damaging Het
Or51t4 A G 7: 102,598,278 (GRCm39) Y202C probably damaging Het
Or52e19b A T 7: 103,032,735 (GRCm39) V158D possibly damaging Het
Or8g17 A G 9: 38,930,747 (GRCm39) L30P probably damaging Het
Phf14 G A 6: 11,933,306 (GRCm39) G56D unknown Het
Phykpl G A 11: 51,477,408 (GRCm39) V67M probably damaging Het
Pigk A G 3: 152,453,404 (GRCm39) D374G probably benign Het
Pirb A G 7: 3,722,857 (GRCm39) V45A probably damaging Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Rb1cc1 T C 1: 6,318,786 (GRCm39) V735A probably damaging Het
Rcor2 A G 19: 7,251,225 (GRCm39) T333A possibly damaging Het
Ret A G 6: 118,151,305 (GRCm39) V593A probably benign Het
Scgb1b10 A T 7: 31,800,570 (GRCm39) D53V probably damaging Het
Sec61a2 G A 2: 5,881,794 (GRCm39) A212V probably damaging Het
Sgpl1 A T 10: 60,942,121 (GRCm39) F245I probably damaging Het
Sh2d4b A C 14: 40,542,723 (GRCm39) V351G probably damaging Het
Shld2 C T 14: 33,990,436 (GRCm39) V157I probably benign Het
Slc22a1 T A 17: 12,871,310 (GRCm39) M484L probably benign Het
Slit1 C G 19: 41,599,247 (GRCm39) G1066R probably damaging Het
Slit1 A T 19: 41,599,248 (GRCm39) D1065E probably benign Het
Spg11 G A 2: 121,922,803 (GRCm39) A882V probably damaging Het
Stab2 A C 10: 86,681,897 (GRCm39) F2501L probably benign Het
Stim2 A T 5: 54,275,671 (GRCm39) K607N probably damaging Het
Syde1 C T 10: 78,425,916 (GRCm39) V84M probably damaging Het
Tepsin A T 11: 119,985,061 (GRCm39) N202K probably benign Het
Tmem207 T A 16: 26,335,495 (GRCm39) I81F possibly damaging Het
Tnc C A 4: 63,935,580 (GRCm39) G452V probably damaging Het
Tshz1 G T 18: 84,033,782 (GRCm39) Q209K probably damaging Het
Ttn A T 2: 76,773,696 (GRCm39) N2308K unknown Het
Zfp266 A G 9: 20,410,548 (GRCm39) I543T probably benign Het
Zfp777 G T 6: 48,001,645 (GRCm39) P815Q probably damaging Het
Zhx3 A G 2: 160,623,015 (GRCm39) I384T probably damaging 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
R5594:Birc7 UTSW 2 180,575,129 (GRCm39) critical splice donor site probably null
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
R8886:Birc7 UTSW 2 180,574,786 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGCCAAGGATGTTCAGGAAC -3'
(R):5'- GCCCTTGATATCCAGCTAAAAC -3'

Sequencing Primer
(F):5'- TGTTCAGGAACAGCTGCGAC -3'
(R):5'- GCTAAAACTAGAGGTGTCCCCTAG -3'
Posted On 2020-09-15