Incidental Mutation 'R1653:Zfp747l1'
ID 188854
Institutional Source Beutler Lab
Gene Symbol Zfp747l1
Ensembl Gene ENSMUSG00000030823
Gene Name zinc finger protein 747 like 1
Synonyms 9130019O22Rik
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126981432-126986338 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126983652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 483 (H483Q)
Ref Sequence ENSEMBL: ENSMUSP00000038195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049052] [ENSMUST00000164345]
AlphaFold G3X941
Predicted Effect possibly damaging
Transcript: ENSMUST00000049052
AA Change: H483Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038195
Gene: ENSMUSG00000030823
AA Change: H483Q

DomainStartEndE-ValueType
KRAB 22 82 5.44e-25 SMART
low complexity region 102 115 N/A INTRINSIC
ZnF_C2H2 152 174 6.88e-4 SMART
ZnF_C2H2 180 202 1.47e-3 SMART
ZnF_C2H2 208 230 5.29e-5 SMART
ZnF_C2H2 236 258 4.87e-4 SMART
ZnF_C2H2 264 286 3.69e-4 SMART
ZnF_C2H2 292 314 1.47e-3 SMART
ZnF_C2H2 320 342 5.21e-4 SMART
ZnF_C2H2 348 370 1.45e-2 SMART
ZnF_C2H2 376 398 2.12e-4 SMART
ZnF_C2H2 404 427 1.45e-2 SMART
ZnF_C2H2 433 455 3.69e-4 SMART
ZnF_C2H2 461 483 6.67e-2 SMART
ZnF_C2H2 489 511 1.67e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164345
SMART Domains Protein: ENSMUSP00000131610
Gene: ENSMUSG00000030823

DomainStartEndE-ValueType
KRAB 22 67 1.65e0 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S probably damaging Het
Other mutations in Zfp747l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Zfp747l1 APN 7 126,985,716 (GRCm39) unclassified probably benign
IGL03102:Zfp747l1 APN 7 126,983,951 (GRCm39) missense probably benign 0.01
IGL03264:Zfp747l1 APN 7 126,984,811 (GRCm39) unclassified probably benign
R1692:Zfp747l1 UTSW 7 126,983,652 (GRCm39) missense possibly damaging 0.71
R2042:Zfp747l1 UTSW 7 126,984,641 (GRCm39) missense possibly damaging 0.93
R2132:Zfp747l1 UTSW 7 126,986,107 (GRCm39) missense probably benign
R3768:Zfp747l1 UTSW 7 126,984,035 (GRCm39) unclassified probably benign
R3769:Zfp747l1 UTSW 7 126,984,035 (GRCm39) unclassified probably benign
R3770:Zfp747l1 UTSW 7 126,984,035 (GRCm39) unclassified probably benign
R4459:Zfp747l1 UTSW 7 126,983,917 (GRCm39) missense probably damaging 0.98
R4461:Zfp747l1 UTSW 7 126,983,917 (GRCm39) missense probably damaging 0.98
R4839:Zfp747l1 UTSW 7 126,984,179 (GRCm39) missense probably benign 0.32
R4903:Zfp747l1 UTSW 7 126,984,578 (GRCm39) missense probably benign 0.02
R5231:Zfp747l1 UTSW 7 126,984,586 (GRCm39) missense probably damaging 0.98
R5324:Zfp747l1 UTSW 7 126,984,079 (GRCm39) unclassified probably benign
R5735:Zfp747l1 UTSW 7 126,984,579 (GRCm39) missense possibly damaging 0.60
R5808:Zfp747l1 UTSW 7 126,984,085 (GRCm39) unclassified probably benign
R6429:Zfp747l1 UTSW 7 126,984,214 (GRCm39) unclassified probably benign
R6571:Zfp747l1 UTSW 7 126,984,310 (GRCm39) unclassified probably benign
R6655:Zfp747l1 UTSW 7 126,983,512 (GRCm39) missense possibly damaging 0.96
R6806:Zfp747l1 UTSW 7 126,985,766 (GRCm39) unclassified probably benign
R6962:Zfp747l1 UTSW 7 126,983,487 (GRCm39) missense possibly damaging 0.70
R7091:Zfp747l1 UTSW 7 126,983,534 (GRCm39) missense possibly damaging 0.70
R7204:Zfp747l1 UTSW 7 126,983,518 (GRCm39) missense possibly damaging 0.92
R7218:Zfp747l1 UTSW 7 126,983,852 (GRCm39) missense probably benign 0.32
R7570:Zfp747l1 UTSW 7 126,984,455 (GRCm39) missense probably benign 0.00
R7604:Zfp747l1 UTSW 7 126,985,707 (GRCm39) missense unknown
R7661:Zfp747l1 UTSW 7 126,984,135 (GRCm39) nonsense probably null
R7893:Zfp747l1 UTSW 7 126,985,716 (GRCm39) unclassified probably benign
R8323:Zfp747l1 UTSW 7 126,983,621 (GRCm39) missense possibly damaging 0.71
R9172:Zfp747l1 UTSW 7 126,984,626 (GRCm39) missense probably benign 0.38
R9204:Zfp747l1 UTSW 7 126,984,332 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACTCTGGGTAATGCTAGAAGCCCAC -3'
(R):5'- CACTGGGGAGAAGCCTTACTGTTG -3'

Sequencing Primer
(F):5'- TGCTAGAAGCCCACAGGTG -3'
(R):5'- TGCTTCAGCCAGAGATCTGC -3'
Posted On 2014-05-09