Incidental Mutation 'R7512:Zfp764l1'
ID 582152
Institutional Source Beutler Lab
Gene Symbol Zfp764l1
Ensembl Gene ENSMUSG00000078580
Gene Name zinc finger protein 764 like 1
Synonyms E430018J23Rik
MMRRC Submission 045585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R7512 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126988845-126992801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126992496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 38 (C38Y)
Ref Sequence ENSEMBL: ENSMUSP00000073867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074249] [ENSMUST00000106303] [ENSMUST00000165495]
AlphaFold E9PZQ8
Predicted Effect probably null
Transcript: ENSMUST00000074249
AA Change: C38Y

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073867
Gene: ENSMUSG00000078580
AA Change: C38Y

DomainStartEndE-ValueType
KRAB 22 79 4.43e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106303
AA Change: C38Y

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101910
Gene: ENSMUSG00000078580
AA Change: C38Y

DomainStartEndE-ValueType
KRAB 22 81 9.25e-28 SMART
Predicted Effect probably null
Transcript: ENSMUST00000165495
AA Change: C38Y

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580
AA Change: C38Y

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
Meta Mutation Damage Score 0.3601 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,829,275 (GRCm39) A1395T probably benign Het
Ank3 A G 10: 69,826,691 (GRCm39) K1787E Het
Atg2a C T 19: 6,310,106 (GRCm39) A1763V probably damaging Het
Bdp1 T C 13: 100,187,457 (GRCm39) I1637V probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Ccnt2 T A 1: 127,730,031 (GRCm39) S303T possibly damaging Het
Cdh3 C T 8: 107,265,640 (GRCm39) Q228* probably null Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dock2 A C 11: 34,262,542 (GRCm39) C938G possibly damaging Het
Dync1i1 G T 6: 5,969,410 (GRCm39) V412L possibly damaging Het
Eif1ad6 G T 12: 87,668,751 (GRCm39) E128* probably null Het
Entrep2 C T 7: 64,805,918 (GRCm39) A52T probably benign Het
Fam185a G A 5: 21,652,356 (GRCm39) probably null Het
Fcho1 A G 8: 72,169,507 (GRCm39) L133P possibly damaging Het
Galnt12 G A 4: 47,108,406 (GRCm39) R181H possibly damaging Het
Gen1 A G 12: 11,310,977 (GRCm39) V85A possibly damaging Het
Gm12185 A T 11: 48,806,717 (GRCm39) I158K probably benign Het
Gm5624 T C 14: 44,799,312 (GRCm39) R82G Het
Grap2 A C 15: 80,532,754 (GRCm39) N307T probably benign Het
H6pd A G 4: 150,080,405 (GRCm39) F147L probably benign Het
Haspin A T 11: 73,027,418 (GRCm39) I557N probably damaging Het
Hectd4 A T 5: 121,435,172 (GRCm39) K961N possibly damaging Het
Helz2 A G 2: 180,872,647 (GRCm39) M2495T probably benign Het
Helz2 A T 2: 180,877,393 (GRCm39) probably null Het
Impdh1 T C 6: 29,207,168 (GRCm39) I59V probably benign Het
Kcnn1 A T 8: 71,307,293 (GRCm39) L200Q possibly damaging Het
Kif5c T A 2: 49,590,977 (GRCm39) H276Q probably damaging Het
Kntc1 T C 5: 123,929,001 (GRCm39) L1259P probably damaging Het
Krtap4-1 A T 11: 99,518,859 (GRCm39) C50* probably null Het
Lat2 T A 5: 134,634,798 (GRCm39) D114V probably damaging Het
Lrrc41 A G 4: 115,950,191 (GRCm39) T535A possibly damaging Het
Ly75 A T 2: 60,164,907 (GRCm39) V757D probably damaging Het
Masp1 C A 16: 23,288,874 (GRCm39) R642L probably damaging Het
Morn3 A G 5: 123,175,343 (GRCm39) probably null Het
Mpl A T 4: 118,306,089 (GRCm39) I384N Het
Mtmr14 C T 6: 113,245,652 (GRCm39) Q409* probably null Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Oit3 T C 10: 59,274,716 (GRCm39) Y28C probably damaging Het
Or2z8 T A 8: 72,812,367 (GRCm39) I281N probably damaging Het
Or4x12-ps1 A G 2: 89,916,040 (GRCm39) I255T possibly damaging Het
Or5ac22 T A 16: 59,135,390 (GRCm39) N127Y probably damaging Het
Pcdh15 T C 10: 74,477,214 (GRCm39) Y186H possibly damaging Het
Pcdhgb1 T A 18: 37,815,418 (GRCm39) D636E probably damaging Het
Pdgfra A T 5: 75,355,675 (GRCm39) R1062* probably null Het
Pds5b T C 5: 150,711,807 (GRCm39) F922L probably damaging Het
Pip5k1c G A 10: 81,150,953 (GRCm39) probably null Het
Ppp2r3d T C 9: 101,052,532 (GRCm39) T226A possibly damaging Het
Ptprh G A 7: 4,574,780 (GRCm39) T413I possibly damaging Het
Rora C A 9: 69,281,367 (GRCm39) D382E probably benign Het
Sacs T A 14: 61,441,879 (GRCm39) N1308K probably benign Het
Sgce C T 6: 4,707,192 (GRCm39) D218N possibly damaging Het
Slc34a3 A T 2: 25,122,253 (GRCm39) probably null Het
Slit1 T C 19: 41,589,074 (GRCm39) Y1471C probably damaging Het
Smarca2 G T 19: 26,661,209 (GRCm39) V935L possibly damaging Het
Smchd1 T C 17: 71,688,364 (GRCm39) N1298S possibly damaging Het
Sort1 T A 3: 108,233,323 (GRCm39) probably null Het
Spata13 T C 14: 60,989,226 (GRCm39) L964P probably damaging Het
Spata31h1 G A 10: 82,128,469 (GRCm39) L1514F probably benign Het
Trav7-6 C A 14: 53,954,552 (GRCm39) D47E probably benign Het
Ubap2l A G 3: 89,917,803 (GRCm39) F864L unknown Het
Vmn2r102 C T 17: 19,914,363 (GRCm39) P643S probably damaging Het
Zfp112 T A 7: 23,824,604 (GRCm39) C195S possibly damaging Het
Other mutations in Zfp764l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01716:Zfp764l1 APN 7 126,991,208 (GRCm39) missense possibly damaging 0.92
IGL01782:Zfp764l1 APN 7 126,992,476 (GRCm39) missense probably benign 0.02
IGL02174:Zfp764l1 APN 7 126,991,525 (GRCm39) missense possibly damaging 0.54
IGL02882:Zfp764l1 APN 7 126,991,424 (GRCm39) missense probably damaging 1.00
IGL03152:Zfp764l1 APN 7 126,991,469 (GRCm39) missense probably damaging 1.00
R0552:Zfp764l1 UTSW 7 126,991,504 (GRCm39) missense possibly damaging 0.92
R1828:Zfp764l1 UTSW 7 126,991,081 (GRCm39) missense probably damaging 1.00
R1843:Zfp764l1 UTSW 7 126,990,660 (GRCm39) missense probably benign 0.32
R1866:Zfp764l1 UTSW 7 126,992,503 (GRCm39) missense probably damaging 1.00
R3429:Zfp764l1 UTSW 7 126,990,914 (GRCm39) missense possibly damaging 0.79
R4433:Zfp764l1 UTSW 7 126,992,174 (GRCm39) missense possibly damaging 0.75
R4933:Zfp764l1 UTSW 7 126,992,521 (GRCm39) missense probably damaging 1.00
R5292:Zfp764l1 UTSW 7 126,991,659 (GRCm39) missense possibly damaging 0.48
R6218:Zfp764l1 UTSW 7 126,992,581 (GRCm39) missense possibly damaging 0.85
R6667:Zfp764l1 UTSW 7 126,992,595 (GRCm39) missense probably benign 0.35
R6712:Zfp764l1 UTSW 7 126,991,482 (GRCm39) missense probably damaging 1.00
R7108:Zfp764l1 UTSW 7 126,990,695 (GRCm39) missense probably benign 0.05
R7214:Zfp764l1 UTSW 7 126,990,695 (GRCm39) missense probably benign 0.05
R7215:Zfp764l1 UTSW 7 126,990,695 (GRCm39) missense probably benign 0.05
R7216:Zfp764l1 UTSW 7 126,990,695 (GRCm39) missense probably benign 0.05
R7313:Zfp764l1 UTSW 7 126,990,856 (GRCm39) missense probably benign 0.23
R7396:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R7397:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R7398:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R7478:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R7479:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R7480:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R7481:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R7652:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R7716:Zfp764l1 UTSW 7 126,991,259 (GRCm39) missense probably benign
R7820:Zfp764l1 UTSW 7 126,990,608 (GRCm39) missense possibly damaging 0.84
R7923:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R7999:Zfp764l1 UTSW 7 126,991,600 (GRCm39) missense probably damaging 0.98
R8097:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R8098:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R8100:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R8182:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R8184:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R8185:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R8309:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R8389:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R8433:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R8436:Zfp764l1 UTSW 7 126,992,496 (GRCm39) missense probably null 0.88
R9196:Zfp764l1 UTSW 7 126,990,761 (GRCm39) missense probably benign 0.02
R9779:Zfp764l1 UTSW 7 126,991,469 (GRCm39) missense probably damaging 1.00
X0022:Zfp764l1 UTSW 7 126,992,442 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACCCACTTGTTACGACCAC -3'
(R):5'- GCTCACGGACCTGATATATGTC -3'

Sequencing Primer
(F):5'- ACTTGTTACGACCACCCGTAC -3'
(R):5'- GGCAACCTAGGATCTGGCAG -3'
Posted On 2019-10-17