Incidental Mutation 'R1774:Gm43302'
ID 196908
Institutional Source Beutler Lab
Gene Symbol Gm43302
Ensembl Gene ENSMUSG00000079362
Gene Name predicted gene 43302
Synonyms
MMRRC Submission 039805-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1774 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 105362773-105441561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105423660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 438 (I438F)
Ref Sequence ENSEMBL: ENSMUSP00000142518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050011] [ENSMUST00000196520] [ENSMUST00000200045]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050011
AA Change: I438F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: I438F

DomainStartEndE-ValueType
Pfam:GBP 16 279 7.6e-118 PFAM
Pfam:GBP_C 281 575 2.1e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196520
AA Change: I438F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000142518
Gene: ENSMUSG00000104713
AA Change: I438F

DomainStartEndE-ValueType
Pfam:GBP 16 279 2.8e-124 PFAM
Pfam:GBP_C 281 575 2.1e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199944
Predicted Effect probably benign
Transcript: ENSMUST00000200045
SMART Domains Protein: ENSMUSP00000142994
Gene: ENSMUSG00000104713

DomainStartEndE-ValueType
Pfam:GBP 16 62 7.4e-19 PFAM
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T C 5: 144,982,351 (GRCm39) V312A probably damaging Het
2810408A11Rik A G 11: 69,791,453 (GRCm39) V42A probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Angpt1 T A 15: 42,387,012 (GRCm39) Q114L probably damaging Het
Apc2 T C 10: 80,144,964 (GRCm39) I625T probably damaging Het
Atg2a T C 19: 6,300,628 (GRCm39) V735A probably benign Het
Birc6 T A 17: 74,947,008 (GRCm39) I2909N probably damaging Het
C7 C G 15: 5,041,557 (GRCm39) D450H probably damaging Het
Cachd1 C T 4: 100,821,632 (GRCm39) T403I probably damaging Het
Cachd1 T A 4: 100,824,240 (GRCm39) F560L probably benign Het
Cacna2d2 A T 9: 107,403,350 (GRCm39) Y944F probably benign Het
Cdkal1 C T 13: 30,034,031 (GRCm39) D21N probably damaging Het
Col18a1 T C 10: 76,895,815 (GRCm39) R901G probably damaging Het
Col27a1 C T 4: 63,143,950 (GRCm39) P546L probably damaging Het
Cps1 C T 1: 67,210,041 (GRCm39) R624W possibly damaging Het
Cyp11a1 A T 9: 57,925,643 (GRCm39) I93F probably benign Het
Cyp2c40 G C 19: 39,775,250 (GRCm39) T334R probably damaging Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
D630003M21Rik A T 2: 158,062,390 (GRCm39) D43E probably damaging Het
Ep400 C A 5: 110,833,357 (GRCm39) C1955F unknown Het
Ethe1 G A 7: 24,293,371 (GRCm39) V6I probably benign Het
F5 C A 1: 164,020,104 (GRCm39) Q860K probably benign Het
Fasn T C 11: 120,707,997 (GRCm39) Y685C probably damaging Het
Gga2 T G 7: 121,611,444 (GRCm39) D38A probably damaging Het
Grm1 T A 10: 10,955,610 (GRCm39) T225S possibly damaging Het
Hic2 G T 16: 17,076,511 (GRCm39) V447L probably damaging Het
Hsf2 G A 10: 57,388,242 (GRCm39) C462Y probably damaging Het
Ice1 T C 13: 70,752,672 (GRCm39) D1138G probably damaging Het
Il6 A G 5: 30,224,433 (GRCm39) T158A probably benign Het
Inpp5d T A 1: 87,595,611 (GRCm39) V120E probably benign Het
Iqca1 T C 1: 90,008,625 (GRCm39) N456S probably benign Het
Itgal T A 7: 126,908,794 (GRCm39) probably null Het
Lrrc66 G C 5: 73,768,198 (GRCm39) Q248E probably benign Het
Lrrc7 T A 3: 157,865,929 (GRCm39) M1271L possibly damaging Het
Lrrc74a T C 12: 86,795,827 (GRCm39) S267P probably damaging Het
Map2 T C 1: 66,453,233 (GRCm39) S550P probably damaging Het
Mapk8ip3 A T 17: 25,143,119 (GRCm39) probably null Het
Mdm4 A C 1: 132,924,384 (GRCm39) S246A probably damaging Het
Med23 A G 10: 24,779,584 (GRCm39) E887G probably damaging Het
Mta1 C T 12: 113,091,659 (GRCm39) A254V probably damaging Het
Myh2 A G 11: 67,064,300 (GRCm39) Y85C possibly damaging Het
Myo1g A G 11: 6,465,988 (GRCm39) Y366H probably damaging Het
Nalcn G A 14: 123,515,678 (GRCm39) P1708S probably benign Het
Nlrp9c A T 7: 26,093,543 (GRCm39) S41T probably benign Het
Nptx2 T A 5: 144,490,248 (GRCm39) S226T possibly damaging Het
Nup85 T A 11: 115,473,771 (GRCm39) S562T probably benign Het
Nxpe5 T C 5: 138,237,797 (GRCm39) V107A probably benign Het
Obi1 A G 14: 104,717,098 (GRCm39) V425A possibly damaging Het
Oga T C 19: 45,765,423 (GRCm39) E128G probably benign Het
Or10ac1 A T 6: 42,515,453 (GRCm39) F168I probably damaging Het
Or10al7 A G 17: 38,366,328 (GRCm39) V43A probably benign Het
Or13c3 T A 4: 52,855,674 (GRCm39) I280F probably benign Het
Or6p1 A G 1: 174,258,905 (GRCm39) T304A probably benign Het
Pcdhb12 C T 18: 37,569,495 (GRCm39) P214S possibly damaging Het
Pcdhb5 T A 18: 37,455,725 (GRCm39) F702I probably damaging Het
Pcnx1 T C 12: 82,022,094 (GRCm39) F1475S probably damaging Het
Pde5a C A 3: 122,523,013 (GRCm39) T40N probably benign Het
Pnpla2 T A 7: 141,039,481 (GRCm39) V398E probably damaging Het
Pramel19 G A 4: 101,797,655 (GRCm39) V18M probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rab20 T C 8: 11,504,223 (GRCm39) K159R probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rgs12 T A 5: 35,123,747 (GRCm39) V510D probably benign Het
Slamf6 T C 1: 171,770,154 (GRCm39) probably benign Het
Slc27a5 A T 7: 12,731,534 (GRCm39) C23* probably null Het
Slc35e2 T C 4: 155,694,621 (GRCm39) V56A possibly damaging Het
Slx4ip T C 2: 136,909,643 (GRCm39) S143P probably damaging Het
Stat5a C T 11: 100,770,112 (GRCm39) S463F probably damaging Het
Svep1 T C 4: 58,146,562 (GRCm39) D360G possibly damaging Het
Tas2r143 A T 6: 42,377,305 (GRCm39) D45V probably damaging Het
Tdrd5 G T 1: 156,105,079 (GRCm39) R516S probably damaging Het
Thy1 A G 9: 43,958,636 (GRCm39) D126G probably benign Het
Tspear C T 10: 77,709,019 (GRCm39) T415I probably benign Het
Ttll5 C A 12: 85,980,176 (GRCm39) T920K probably benign Het
Tut4 T C 4: 108,365,152 (GRCm39) F542L probably damaging Het
Umod T C 7: 119,076,574 (GRCm39) E64G possibly damaging Het
Usf3 A G 16: 44,036,033 (GRCm39) N171S probably damaging Het
Vmn1r23 T A 6: 57,903,675 (GRCm39) R34S probably damaging Het
Wasf1 C G 10: 40,810,475 (GRCm39) P239R possibly damaging Het
Wdr95 C T 5: 149,487,857 (GRCm39) R164* probably null Het
Zan C A 5: 137,418,251 (GRCm39) C2949F unknown Het
Zbed4 T C 15: 88,665,080 (GRCm39) S383P probably benign Het
Zfand5 T A 19: 21,253,895 (GRCm39) C33S probably damaging Het
Zfp12 A G 5: 143,230,984 (GRCm39) Y437C probably damaging Het
Zfp451 A C 1: 33,852,849 (GRCm39) S22A probably benign Het
Other mutations in Gm43302
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0033:Gm43302 UTSW 5 105,424,710 (GRCm39) missense probably benign 0.12
R0066:Gm43302 UTSW 5 105,438,766 (GRCm39) missense probably damaging 1.00
R0764:Gm43302 UTSW 5 105,428,355 (GRCm39) missense probably benign
R1400:Gm43302 UTSW 5 105,422,622 (GRCm39) missense probably damaging 1.00
R1421:Gm43302 UTSW 5 105,365,215 (GRCm39) missense probably benign
R1539:Gm43302 UTSW 5 105,422,635 (GRCm39) missense probably benign 0.02
R1842:Gm43302 UTSW 5 105,425,602 (GRCm39) missense probably benign 0.01
R2011:Gm43302 UTSW 5 105,438,846 (GRCm39) missense probably damaging 1.00
R2131:Gm43302 UTSW 5 105,422,610 (GRCm39) missense probably damaging 0.99
R2174:Gm43302 UTSW 5 105,422,216 (GRCm39) missense probably benign 0.12
R3687:Gm43302 UTSW 5 105,428,132 (GRCm39) missense probably damaging 1.00
R5322:Gm43302 UTSW 5 105,365,347 (GRCm39) missense probably benign 0.00
R5396:Gm43302 UTSW 5 105,427,955 (GRCm39) nonsense probably null
R5668:Gm43302 UTSW 5 105,423,678 (GRCm39) missense probably benign
R5723:Gm43302 UTSW 5 105,365,352 (GRCm39) missense possibly damaging 0.89
R6073:Gm43302 UTSW 5 105,438,825 (GRCm39) missense probably damaging 0.96
R6159:Gm43302 UTSW 5 105,436,894 (GRCm39) missense probably benign 0.11
R6225:Gm43302 UTSW 5 105,425,605 (GRCm39) nonsense probably null
R6483:Gm43302 UTSW 5 105,423,726 (GRCm39) missense probably benign 0.01
R6537:Gm43302 UTSW 5 105,438,861 (GRCm39) missense possibly damaging 0.94
R6678:Gm43302 UTSW 5 105,438,820 (GRCm39) missense probably benign 0.14
R6889:Gm43302 UTSW 5 105,428,004 (GRCm39) missense probably benign 0.00
R7163:Gm43302 UTSW 5 105,441,493 (GRCm39) splice site probably null
R7790:Gm43302 UTSW 5 105,425,691 (GRCm39) missense probably benign 0.03
R7893:Gm43302 UTSW 5 105,436,891 (GRCm39) nonsense probably null
R8047:Gm43302 UTSW 5 105,422,623 (GRCm39) missense possibly damaging 0.74
R8350:Gm43302 UTSW 5 105,422,573 (GRCm39) critical splice donor site probably null
R8450:Gm43302 UTSW 5 105,422,573 (GRCm39) critical splice donor site probably null
R8495:Gm43302 UTSW 5 105,424,570 (GRCm39) missense possibly damaging 0.79
R8728:Gm43302 UTSW 5 105,438,793 (GRCm39) missense probably benign 0.30
R8856:Gm43302 UTSW 5 105,438,739 (GRCm39) missense probably damaging 1.00
R8956:Gm43302 UTSW 5 105,425,602 (GRCm39) missense possibly damaging 0.79
R9009:Gm43302 UTSW 5 105,427,974 (GRCm39) missense probably benign 0.01
RF014:Gm43302 UTSW 5 105,422,623 (GRCm39) missense possibly damaging 0.94
Z1177:Gm43302 UTSW 5 105,424,662 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCCACTTTGCACCAAGCATGG -3'
(R):5'- GTTCAGGTTTTAGCACTTCACATTCCG -3'

Sequencing Primer
(F):5'- gtaaagcacttgccttgcc -3'
(R):5'- AGGTCTTATTACCCTGGAATGC -3'
Posted On 2014-05-23