Incidental Mutation 'R5231:Zfp747l1'
ID 398524
Institutional Source Beutler Lab
Gene Symbol Zfp747l1
Ensembl Gene ENSMUSG00000030823
Gene Name zinc finger protein 747 like 1
Synonyms 9130019O22Rik
MMRRC Submission 042803-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5231 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126981432-126986338 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126984586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 172 (Y172C)
Ref Sequence ENSEMBL: ENSMUSP00000038195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049052] [ENSMUST00000164345] [ENSMUST00000165495]
AlphaFold G3X941
Predicted Effect probably damaging
Transcript: ENSMUST00000049052
AA Change: Y172C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038195
Gene: ENSMUSG00000030823
AA Change: Y172C

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
Predicted Effect probably benign
Transcript: ENSMUST00000165495
SMART Domains Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580

DomainStartEndE-ValueType
KRAB 22 82 4.09e-29 SMART
ZnF_C2H2 168 190 2.2e-2 SMART
ZnF_C2H2 196 218 4.79e-3 SMART
ZnF_C2H2 224 246 4.3e-5 SMART
ZnF_C2H2 252 274 7.9e-4 SMART
ZnF_C2H2 280 302 9.58e-3 SMART
ZnF_C2H2 308 331 2.36e-2 SMART
ZnF_C2H2 337 359 2.57e-3 SMART
ZnF_C2H2 365 387 1.69e-3 SMART
ZnF_C2H2 393 415 2.2e-2 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 T C 10: 80,442,260 (GRCm39) S33P possibly damaging Het
Bche G A 3: 73,608,194 (GRCm39) P411S probably benign Het
Chil3 A G 3: 106,063,045 (GRCm39) S182P probably damaging Het
Col6a4 T C 9: 105,902,730 (GRCm39) E1653G probably damaging Het
Csk G T 9: 57,537,661 (GRCm39) H84Q probably damaging Het
Csmd2 A G 4: 128,439,842 (GRCm39) T3099A probably benign Het
Deup1 G T 9: 15,486,495 (GRCm39) A395E probably damaging Het
Frem2 T C 3: 53,429,716 (GRCm39) Y2778C probably damaging Het
Igfn1 T C 1: 135,894,474 (GRCm39) T2031A probably benign Het
Ighv1-53 C A 12: 115,122,225 (GRCm39) S50I probably benign Het
Ighv1-62-3 A T 12: 115,424,671 (GRCm39) M100K possibly damaging Het
Igkv2-109 T A 6: 68,279,429 (GRCm39) F3I probably benign Het
Isl1 T C 13: 116,438,193 (GRCm39) D296G probably benign Het
Klk1b16 T A 7: 43,786,771 (GRCm39) L10Q probably damaging Het
Kmt2c A T 5: 25,520,471 (GRCm39) S1880T possibly damaging Het
Lhcgr T A 17: 89,063,039 (GRCm39) N211I probably damaging Het
Ltb C T 17: 35,414,802 (GRCm39) L201F probably damaging Het
Mfsd2a A G 4: 122,853,094 (GRCm39) F64S possibly damaging Het
Mmp10 T C 9: 7,502,501 (GRCm39) probably null Het
Mycbp2 A C 14: 103,583,650 (GRCm39) probably null Het
Or1e34 C A 11: 73,778,781 (GRCm39) C139F probably damaging Het
Or52e2 A T 7: 102,804,175 (GRCm39) F260I probably damaging Het
Or5k17 T C 16: 58,746,077 (GRCm39) I286V possibly damaging Het
Or9i14 A T 19: 13,792,711 (GRCm39) I81N probably damaging Het
Peg10 C T 6: 4,756,939 (GRCm39) probably benign Het
Plscr1 C A 9: 92,148,784 (GRCm39) P208H probably damaging Het
Rhot1 T C 11: 80,118,160 (GRCm39) probably null Het
Rpl15-ps6 T C 15: 52,341,440 (GRCm39) noncoding transcript Het
Smarcc2 T C 10: 128,297,221 (GRCm39) Y38H probably damaging Het
Spata31e2 T A 1: 26,723,032 (GRCm39) H716L possibly damaging Het
Stat2 T C 10: 128,117,111 (GRCm39) probably null Het
Trip11 T C 12: 101,851,860 (GRCm39) K735E probably damaging Het
Ttll1 T A 15: 83,373,667 (GRCm39) probably null Het
Vmn2r37 C A 7: 9,209,594 (GRCm39) L639F possibly damaging Het
Vmn2r60 A T 7: 41,786,448 (GRCm39) Q417L possibly damaging Het
Vps8 A T 16: 21,395,475 (GRCm39) D1255V probably damaging Het
Zfp354b A C 11: 50,813,917 (GRCm39) I336S probably benign 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
R1653:Zfp747l1 UTSW 7 126,983,652 (GRCm39) missense possibly damaging 0.71
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
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'- CATGTGTGCCACCAGTTTGG -3'
(R):5'- TCATGGTCTCCCAGCAGATTG -3'

Sequencing Primer
(F):5'- ACCAGTTTGGACCGCTG -3'
(R):5'- GCAGATTGCAGGCACGAG -3'
Posted On 2016-07-06