Incidental Mutation 'R0450:Zfp628'
ID 39598
Institutional Source Beutler Lab
Gene Symbol Zfp628
Ensembl Gene ENSMUSG00000074406
Gene Name zinc finger protein 628
Synonyms Zec
MMRRC Submission 038650-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.656) question?
Stock # R0450 (G1)
Quality Score 179
Status Not validated
Chromosome 7
Chromosomal Location 4918216-4925001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4922732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 318 (Q318L)
Ref Sequence ENSEMBL: ENSMUSP00000112058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047309] [ENSMUST00000116354] [ENSMUST00000207506] [ENSMUST00000207527] [ENSMUST00000207687] [ENSMUST00000208754]
AlphaFold Q8CJ78
Predicted Effect probably benign
Transcript: ENSMUST00000047309
SMART Domains Protein: ENSMUSP00000045354
Gene: ENSMUSG00000035285

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
low complexity region 88 97 N/A INTRINSIC
Pfam:Acetyltransf_1 101 186 4.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116354
AA Change: Q318L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406
AA Change: Q318L

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
ZnF_C2H2 34 56 1.04e-3 SMART
ZnF_C2H2 62 84 2.4e-3 SMART
ZnF_C2H2 90 112 2.09e-3 SMART
ZnF_C2H2 118 140 1.56e-2 SMART
ZnF_C2H2 146 168 3.69e-4 SMART
ZnF_C2H2 174 196 7.49e-5 SMART
ZnF_C2H2 202 224 1.69e-3 SMART
low complexity region 225 238 N/A INTRINSIC
low complexity region 255 275 N/A INTRINSIC
ZnF_C2H2 289 309 1.38e2 SMART
low complexity region 334 344 N/A INTRINSIC
ZnF_C2H2 346 368 1.76e-1 SMART
ZnF_C2H2 376 398 9.3e-1 SMART
low complexity region 422 440 N/A INTRINSIC
ZnF_C2H2 446 468 2.75e-3 SMART
ZnF_C2H2 474 496 1.69e-3 SMART
ZnF_C2H2 502 524 1.45e-2 SMART
ZnF_C2H2 530 552 1.03e-2 SMART
ZnF_C2H2 558 580 3.44e-4 SMART
ZnF_C2H2 586 608 2.61e-4 SMART
ZnF_C2H2 614 636 7.9e-4 SMART
low complexity region 685 703 N/A INTRINSIC
low complexity region 716 756 N/A INTRINSIC
low complexity region 770 792 N/A INTRINSIC
low complexity region 981 1000 N/A INTRINSIC
low complexity region 1001 1018 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207506
Predicted Effect probably benign
Transcript: ENSMUST00000207527
Predicted Effect probably benign
Transcript: ENSMUST00000207687
Predicted Effect probably benign
Transcript: ENSMUST00000208754
Meta Mutation Damage Score 0.0880 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl G A 2: 127,722,423 (GRCm39) probably null Het
AI606181 A C 19: 41,582,170 (GRCm39) K113N unknown Het
Ankrd11 T C 8: 123,618,914 (GRCm39) D1646G possibly damaging Het
Ap2m1 T A 16: 20,360,990 (GRCm39) I334N possibly damaging Het
Arih2 T A 9: 108,482,291 (GRCm39) H490L possibly damaging Het
Ccdc168 T A 1: 44,100,257 (GRCm39) K280N possibly damaging Het
Cdhr1 T C 14: 36,802,633 (GRCm39) Y610C probably damaging Het
Cdkal1 C A 13: 29,875,579 (GRCm39) probably null Het
Cep76 A T 18: 67,767,850 (GRCm39) N227K probably benign Het
Clca4b A T 3: 144,619,112 (GRCm39) Y676N probably damaging Het
Cog2 T C 8: 125,255,797 (GRCm39) probably null Het
Col6a4 A T 9: 105,957,746 (GRCm39) V26D probably damaging Het
Dcaf11 T C 14: 55,806,537 (GRCm39) V446A probably damaging Het
Dync1h1 C A 12: 110,606,378 (GRCm39) Q2483K probably benign Het
Enpp3 A T 10: 24,652,679 (GRCm39) D759E probably damaging Het
Etfbkmt C T 6: 149,052,082 (GRCm39) R96W probably benign Het
Fam83a C A 15: 57,873,322 (GRCm39) Q384K probably benign Het
Glipr1l2 A G 10: 111,928,477 (GRCm39) D124G probably benign Het
Gucy2e T C 11: 69,126,402 (GRCm39) D326G probably benign Het
Hnrnph3 T A 10: 62,853,994 (GRCm39) R41S probably benign Het
Hnrnph3 T A 10: 62,855,279 (GRCm39) D2V probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Itpr2 T C 6: 146,319,477 (GRCm39) T188A possibly damaging Het
Krt23 T A 11: 99,377,608 (GRCm39) I133L probably damaging Het
Krt74 T C 15: 101,671,751 (GRCm39) noncoding transcript Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Map1a A T 2: 121,136,255 (GRCm39) H2357L probably benign Het
Mbl1 A G 14: 40,880,706 (GRCm39) N198S probably damaging Het
Mcf2l A G 8: 13,047,337 (GRCm39) D233G probably damaging Het
Mdga2 T C 12: 66,517,700 (GRCm39) K45E possibly damaging Het
Mdn1 A G 4: 32,738,619 (GRCm39) N3524S probably benign Het
Mospd3 A G 5: 137,595,294 (GRCm39) L233P probably damaging Het
Msto1 A G 3: 88,818,848 (GRCm39) L269P probably benign Het
Or4a39 A T 2: 89,237,135 (GRCm39) M96K probably damaging Het
Or5p5 T C 7: 107,413,895 (GRCm39) Y35H probably damaging Het
Or5w15 A G 2: 87,567,825 (GRCm39) V281A probably damaging Het
Or8b12i T C 9: 20,082,561 (GRCm39) Y102C probably benign Het
Or8g27 G A 9: 39,129,024 (GRCm39) V124I possibly damaging Het
Parp2 T A 14: 51,057,130 (GRCm39) Y361N probably damaging Het
Pcf11 G A 7: 92,307,039 (GRCm39) P1043L probably damaging Het
Phf24 G T 4: 42,933,761 (GRCm39) V48L possibly damaging Het
Pkn1 C A 8: 84,398,953 (GRCm39) C678F probably damaging Het
Plcl2 T C 17: 50,915,010 (GRCm39) L673P probably damaging Het
Ppp1r3c A T 19: 36,711,617 (GRCm39) F51Y possibly damaging Het
Rem2 T C 14: 54,713,754 (GRCm39) probably benign Het
Smpdl3b A G 4: 132,472,449 (GRCm39) V108A probably damaging Het
Sncaip A G 18: 53,001,781 (GRCm39) T101A probably benign Het
Stk11 T C 10: 79,961,920 (GRCm39) V47A probably damaging Het
Tmpo A C 10: 90,998,958 (GRCm39) I276M probably benign Het
Trim55 G T 3: 19,725,256 (GRCm39) V258L possibly damaging Het
Ttn A G 2: 76,560,756 (GRCm39) V29215A probably damaging Het
Ubr4 T G 4: 139,157,534 (GRCm39) S2364A probably benign Het
Unc79 T A 12: 103,045,329 (GRCm39) probably null Het
Upb1 T C 10: 75,250,917 (GRCm39) probably null Het
Usp47 T C 7: 111,655,787 (GRCm39) S155P possibly damaging Het
Zfp729b A T 13: 67,739,253 (GRCm39) V1004E probably benign Het
Other mutations in Zfp628
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Zfp628 APN 7 4,923,805 (GRCm39) missense probably damaging 1.00
R0107:Zfp628 UTSW 7 4,923,167 (GRCm39) missense probably damaging 1.00
R0110:Zfp628 UTSW 7 4,922,732 (GRCm39) missense probably benign
R0469:Zfp628 UTSW 7 4,922,732 (GRCm39) missense probably benign
R0480:Zfp628 UTSW 7 4,924,615 (GRCm39) missense probably benign 0.00
R0518:Zfp628 UTSW 7 4,922,939 (GRCm39) missense probably damaging 0.97
R0521:Zfp628 UTSW 7 4,922,939 (GRCm39) missense probably damaging 0.97
R1081:Zfp628 UTSW 7 4,923,182 (GRCm39) missense probably damaging 1.00
R1846:Zfp628 UTSW 7 4,923,866 (GRCm39) missense possibly damaging 0.52
R1938:Zfp628 UTSW 7 4,923,767 (GRCm39) missense probably benign 0.00
R1997:Zfp628 UTSW 7 4,921,831 (GRCm39) missense probably damaging 0.98
R2221:Zfp628 UTSW 7 4,923,830 (GRCm39) missense probably benign 0.00
R2364:Zfp628 UTSW 7 4,923,686 (GRCm39) missense probably damaging 1.00
R3077:Zfp628 UTSW 7 4,924,199 (GRCm39) missense possibly damaging 0.88
R3964:Zfp628 UTSW 7 4,924,744 (GRCm39) missense probably benign 0.00
R3966:Zfp628 UTSW 7 4,924,744 (GRCm39) missense probably benign 0.00
R6058:Zfp628 UTSW 7 4,923,917 (GRCm39) missense probably damaging 1.00
R6240:Zfp628 UTSW 7 4,922,848 (GRCm39) missense possibly damaging 0.93
R6516:Zfp628 UTSW 7 4,923,201 (GRCm39) nonsense probably null
R6962:Zfp628 UTSW 7 4,922,549 (GRCm39) missense probably benign 0.03
R7180:Zfp628 UTSW 7 4,924,063 (GRCm39) missense probably benign 0.18
R7347:Zfp628 UTSW 7 4,924,817 (GRCm39) missense probably damaging 0.99
R7348:Zfp628 UTSW 7 4,924,817 (GRCm39) missense probably damaging 0.99
R7349:Zfp628 UTSW 7 4,924,817 (GRCm39) missense probably damaging 0.99
R8016:Zfp628 UTSW 7 4,922,228 (GRCm39) missense probably damaging 1.00
R8074:Zfp628 UTSW 7 4,923,205 (GRCm39) missense probably damaging 1.00
R8161:Zfp628 UTSW 7 4,921,958 (GRCm39) missense probably damaging 1.00
R8328:Zfp628 UTSW 7 4,922,813 (GRCm39) missense probably benign
R9116:Zfp628 UTSW 7 4,924,202 (GRCm39) missense probably benign 0.06
R9158:Zfp628 UTSW 7 4,922,153 (GRCm39) missense probably damaging 1.00
R9251:Zfp628 UTSW 7 4,923,880 (GRCm39) missense probably damaging 1.00
R9313:Zfp628 UTSW 7 4,922,549 (GRCm39) missense probably benign
RF018:Zfp628 UTSW 7 4,923,948 (GRCm39) unclassified probably benign
X0022:Zfp628 UTSW 7 4,922,408 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGACACCAAGGTTCTGGTCTC -3'
(R):5'- TCCCACACTCGGCACATTTGTAG -3'

Sequencing Primer
(F):5'- CACCAAGGTTCTGGTCTCTGATG -3'
(R):5'- TTGTGGGAAGGCACCATC -3'
Posted On 2013-05-23