Incidental Mutation 'R8175:Zfp790'
ID 634288
Institutional Source Beutler Lab
Gene Symbol Zfp790
Ensembl Gene ENSMUSG00000011427
Gene Name zinc finger protein 790
Synonyms 6330581L23Rik
MMRRC Submission 067600-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8175 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 29515539-29530430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 29529205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 630 (L630R)
Ref Sequence ENSEMBL: ENSMUSP00000032796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032796] [ENSMUST00000108223] [ENSMUST00000178162]
AlphaFold Q80ZX2
Predicted Effect possibly damaging
Transcript: ENSMUST00000032796
AA Change: L630R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032796
Gene: ENSMUSG00000011427
AA Change: L630R

DomainStartEndE-ValueType
KRAB 5 65 3e-27 SMART
ZnF_C2H2 224 246 2.95e-3 SMART
ZnF_C2H2 252 274 2.53e-2 SMART
ZnF_C2H2 280 302 5.5e-3 SMART
ZnF_C2H2 308 330 2.75e-3 SMART
ZnF_C2H2 336 358 2.12e-4 SMART
ZnF_C2H2 364 386 1.03e-2 SMART
Pfam:zf-C2H2_6 391 403 2.4e-1 PFAM
ZnF_C2H2 448 470 9.56e1 SMART
ZnF_C2H2 476 498 7.26e-3 SMART
ZnF_C2H2 504 526 2.57e-3 SMART
ZnF_C2H2 532 554 6.42e-4 SMART
ZnF_C2H2 640 662 1.12e-3 SMART
ZnF_C2H2 668 690 2.12e-4 SMART
ZnF_C2H2 696 718 1.98e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108223
SMART Domains Protein: ENSMUSP00000103858
Gene: ENSMUSG00000050855

DomainStartEndE-ValueType
KRAB 6 67 2.42e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000178162
AA Change: L630R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136932
Gene: ENSMUSG00000011427
AA Change: L630R

DomainStartEndE-ValueType
KRAB 5 65 3e-27 SMART
ZnF_C2H2 224 246 2.95e-3 SMART
ZnF_C2H2 252 274 2.53e-2 SMART
ZnF_C2H2 280 302 5.5e-3 SMART
ZnF_C2H2 308 330 2.75e-3 SMART
ZnF_C2H2 336 358 2.12e-4 SMART
ZnF_C2H2 364 386 1.03e-2 SMART
ZnF_C2H2 448 470 9.56e1 SMART
ZnF_C2H2 476 498 7.26e-3 SMART
ZnF_C2H2 504 526 2.57e-3 SMART
ZnF_C2H2 532 554 6.42e-4 SMART
ZnF_C2H2 640 662 1.12e-3 SMART
ZnF_C2H2 668 690 2.12e-4 SMART
ZnF_C2H2 696 718 1.98e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 C T 9: 30,815,952 (GRCm39) V635M probably damaging Het
Aim2 A T 1: 173,282,920 (GRCm39) M1L possibly damaging Het
Ank3 T C 10: 69,729,339 (GRCm39) V700A unknown Het
Arhgap10 T C 8: 78,037,471 (GRCm39) T586A probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef4 G A 1: 34,849,455 (GRCm39) V349I probably benign Het
Atp1a1 A G 3: 101,492,170 (GRCm39) F569L possibly damaging Het
Btbd10 T A 7: 112,921,999 (GRCm39) probably null Het
Capza2 G A 6: 17,665,381 (GRCm39) D270N probably benign Het
Cobll1 T C 2: 64,929,575 (GRCm39) N584D probably benign Het
Coro1c T A 5: 113,988,876 (GRCm39) I156F probably benign Het
Cpsf3 T C 12: 21,350,178 (GRCm39) I299T probably benign Het
Cse1l T A 2: 166,785,128 (GRCm39) probably null Het
D5Ertd579e T C 5: 36,772,814 (GRCm39) E527G probably damaging Het
Dcbld2 T C 16: 58,253,710 (GRCm39) L149S possibly damaging Het
Ecpas C T 4: 58,872,756 (GRCm39) V182M probably damaging Het
Egflam C A 15: 7,241,633 (GRCm39) W925L probably damaging Het
Ehmt2 A G 17: 35,130,396 (GRCm39) N1071D probably damaging Het
Eif3g A T 9: 20,809,026 (GRCm39) S93T probably damaging Het
Eipr1 A G 12: 28,913,106 (GRCm39) E269G Het
Eng C A 2: 32,568,934 (GRCm39) T487K possibly damaging Het
Epb41l3 T C 17: 69,517,361 (GRCm39) Y130H probably damaging Het
F5 A T 1: 164,019,834 (GRCm39) R770* probably null Het
Fam227a A G 15: 79,524,861 (GRCm39) F201S probably damaging Het
Fam50b G A 13: 34,930,847 (GRCm39) E108K probably benign Het
Fcgbpl1 T A 7: 27,863,873 (GRCm39) C2548* probably null Het
Fn1 A G 1: 71,638,824 (GRCm39) I1971T probably damaging Het
Fsip2 T A 2: 82,815,088 (GRCm39) F3607Y probably benign Het
Fsip2 A T 2: 82,818,021 (GRCm39) I4585L probably benign Het
Gas1 T C 13: 60,323,932 (GRCm39) N275S Het
Hus1b A G 13: 31,131,215 (GRCm39) V148A probably benign Het
Ighmbp2 A G 19: 3,316,365 (GRCm39) L575P possibly damaging Het
Igsf21 A T 4: 139,755,542 (GRCm39) F371Y probably damaging Het
Itprid2 A G 2: 79,488,496 (GRCm39) R860G probably damaging Het
Jade1 G T 3: 41,567,723 (GRCm39) R597L probably benign Het
Krt4 A G 15: 101,828,984 (GRCm39) probably null Het
Lap3 T C 5: 45,666,833 (GRCm39) S412P probably benign Het
Lifr A G 15: 7,216,496 (GRCm39) T824A probably damaging Het
Megf6 T A 4: 154,353,076 (GRCm39) C1307* probably null Het
Ndufb10 A T 17: 24,943,166 (GRCm39) V48E possibly damaging Het
Nelfa T C 5: 34,079,357 (GRCm39) K72R possibly damaging Het
Obscn C T 11: 58,886,786 (GRCm39) V7767I unknown Het
Pptc7 T A 5: 122,457,882 (GRCm39) C284S probably benign Het
Pxdc1 A G 13: 34,812,798 (GRCm39) S218P probably damaging Het
Rabep1 T A 11: 70,775,755 (GRCm39) W110R probably damaging Het
Ren1 T C 1: 133,282,007 (GRCm39) Y79H possibly damaging Het
Ripor3 T C 2: 167,825,679 (GRCm39) S760G probably benign Het
Setd1a A G 7: 127,395,415 (GRCm39) E1327G unknown Het
Setd5 T C 6: 113,091,874 (GRCm39) W232R probably damaging Het
Slf1 A T 13: 77,260,790 (GRCm39) H171Q probably damaging Het
Smoc1 A G 12: 81,214,440 (GRCm39) D285G probably damaging Het
Taf10 T C 7: 105,393,134 (GRCm39) Y97C probably damaging Het
Tgfbr2 G A 9: 115,939,023 (GRCm39) S293L possibly damaging Het
Tmem181a A G 17: 6,346,075 (GRCm39) I190V probably benign Het
Traf6 C T 2: 101,521,825 (GRCm39) T220I possibly damaging Het
Ube4b T C 4: 149,435,973 (GRCm39) N716D probably benign Het
Unc5d T A 8: 29,334,855 (GRCm39) K157N probably damaging Het
Usp19 G A 9: 108,377,377 (GRCm39) R1255H probably damaging Het
Vmn2r12 T A 5: 109,238,349 (GRCm39) I464F probably damaging Het
Zbtb20 A T 16: 43,397,443 (GRCm39) probably benign Het
Other mutations in Zfp790
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Zfp790 APN 7 29,527,988 (GRCm39) missense probably benign 0.32
IGL00979:Zfp790 APN 7 29,529,034 (GRCm39) missense probably benign 0.00
IGL02286:Zfp790 APN 7 29,529,160 (GRCm39) missense possibly damaging 0.53
IGL03136:Zfp790 APN 7 29,529,320 (GRCm39) nonsense probably null
R0021:Zfp790 UTSW 7 29,525,113 (GRCm39) unclassified probably benign
R0077:Zfp790 UTSW 7 29,524,300 (GRCm39) missense probably damaging 0.98
R1477:Zfp790 UTSW 7 29,522,525 (GRCm39) start gained probably benign
R1572:Zfp790 UTSW 7 29,527,564 (GRCm39) missense probably benign 0.33
R2015:Zfp790 UTSW 7 29,528,286 (GRCm39) missense probably benign 0.29
R4941:Zfp790 UTSW 7 29,528,916 (GRCm39) missense possibly damaging 0.83
R5019:Zfp790 UTSW 7 29,529,192 (GRCm39) missense probably benign 0.00
R5159:Zfp790 UTSW 7 29,529,192 (GRCm39) missense probably benign 0.00
R5160:Zfp790 UTSW 7 29,529,192 (GRCm39) missense probably benign 0.00
R5722:Zfp790 UTSW 7 29,529,514 (GRCm39) nonsense probably null
R5954:Zfp790 UTSW 7 29,528,929 (GRCm39) missense probably damaging 1.00
R6025:Zfp790 UTSW 7 29,528,970 (GRCm39) missense possibly damaging 0.71
R6312:Zfp790 UTSW 7 29,527,647 (GRCm39) missense probably damaging 1.00
R7392:Zfp790 UTSW 7 29,528,050 (GRCm39) missense possibly damaging 0.52
R7623:Zfp790 UTSW 7 29,525,130 (GRCm39) nonsense probably null
R8036:Zfp790 UTSW 7 29,528,346 (GRCm39) missense possibly damaging 0.92
R8898:Zfp790 UTSW 7 29,522,525 (GRCm39) start gained probably benign
R8988:Zfp790 UTSW 7 29,527,593 (GRCm39) missense probably benign
R9176:Zfp790 UTSW 7 29,529,387 (GRCm39) missense probably benign 0.04
R9404:Zfp790 UTSW 7 29,525,185 (GRCm39) missense probably benign
R9519:Zfp790 UTSW 7 29,522,567 (GRCm39) missense unknown
Z1186:Zfp790 UTSW 7 29,529,109 (GRCm39) missense possibly damaging 0.53
Z1186:Zfp790 UTSW 7 29,529,258 (GRCm39) missense possibly damaging 0.92
Z1186:Zfp790 UTSW 7 29,529,208 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TGGTTTAGAAAACACTCCGCACTC -3'
(R):5'- ATCACATCCTTGGGCTGCTC -3'

Sequencing Primer
(F):5'- GCACTCCTTGATCCCTACGGG -3'
(R):5'- ACACTCATTGCACTCGTAGGG -3'
Posted On 2020-07-13