Incidental Mutation 'R1402:Zfp78'
ID 188569
Institutional Source Beutler Lab
Gene Symbol Zfp78
Ensembl Gene ENSMUSG00000055150
Gene Name zinc finger protein 78
Synonyms KRAB12, Zfp77
MMRRC Submission 039464-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R1402 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 6366279-6385604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6381618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 223 (H223N)
Ref Sequence ENSEMBL: ENSMUSP00000147154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081022] [ENSMUST00000086323] [ENSMUST00000108559] [ENSMUST00000207314] [ENSMUST00000207347] [ENSMUST00000208030] [ENSMUST00000208390] [ENSMUST00000208763]
AlphaFold Q5U406
Predicted Effect probably benign
Transcript: ENSMUST00000081022
SMART Domains Protein: ENSMUSP00000079812
Gene: ENSMUSG00000062861

DomainStartEndE-ValueType
low complexity region 27 50 N/A INTRINSIC
KRAB 103 163 3.53e-33 SMART
ZnF_C2H2 377 399 3.95e-4 SMART
ZnF_C2H2 405 427 6.88e-4 SMART
ZnF_C2H2 433 456 1.2e-3 SMART
ZnF_C2H2 462 484 9.58e-3 SMART
ZnF_C2H2 490 512 2.57e-3 SMART
ZnF_C2H2 518 540 1.82e-3 SMART
ZnF_C2H2 546 568 2.4e-3 SMART
ZnF_C2H2 574 596 6.32e-3 SMART
ZnF_C2H2 602 624 1.38e-3 SMART
ZnF_C2H2 630 652 4.87e-4 SMART
ZnF_C2H2 658 680 2.91e-2 SMART
ZnF_C2H2 686 708 2.36e-2 SMART
ZnF_C2H2 714 736 6.42e-4 SMART
ZnF_C2H2 742 764 2.4e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000086323
AA Change: H191N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000083503
Gene: ENSMUSG00000055150
AA Change: H191N

DomainStartEndE-ValueType
KRAB 14 74 1.07e-23 SMART
low complexity region 148 159 N/A INTRINSIC
ZnF_C2H2 173 195 3.39e-3 SMART
ZnF_C2H2 201 223 2.36e-2 SMART
ZnF_C2H2 229 251 3.63e-3 SMART
ZnF_C2H2 257 279 3.89e-3 SMART
ZnF_C2H2 285 307 3.95e-4 SMART
ZnF_C2H2 313 335 1.69e-3 SMART
ZnF_C2H2 341 363 5.21e-4 SMART
ZnF_C2H2 369 391 1.38e-3 SMART
ZnF_C2H2 397 419 9.88e-5 SMART
ZnF_C2H2 425 447 7.67e-2 SMART
ZnF_C2H2 453 475 6.32e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108559
AA Change: H223N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104199
Gene: ENSMUSG00000055150
AA Change: H223N

DomainStartEndE-ValueType
KRAB 14 74 3.12e-34 SMART
low complexity region 180 191 N/A INTRINSIC
ZnF_C2H2 205 227 3.39e-3 SMART
ZnF_C2H2 233 255 2.36e-2 SMART
ZnF_C2H2 261 283 3.63e-3 SMART
ZnF_C2H2 289 311 3.89e-3 SMART
ZnF_C2H2 317 339 3.95e-4 SMART
ZnF_C2H2 345 367 1.69e-3 SMART
ZnF_C2H2 373 395 5.21e-4 SMART
ZnF_C2H2 401 423 1.38e-3 SMART
ZnF_C2H2 429 451 9.88e-5 SMART
ZnF_C2H2 457 479 7.67e-2 SMART
ZnF_C2H2 485 507 6.32e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207086
Predicted Effect probably damaging
Transcript: ENSMUST00000207314
AA Change: H191N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000207347
AA Change: H223N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208030
AA Change: H191N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000208390
AA Change: H191N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000208763
Predicted Effect probably benign
Transcript: ENSMUST00000208949
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp8 T A 7: 123,065,862 (GRCm39) V219E probably damaging Het
Birc6 T A 17: 75,004,528 (GRCm39) probably benign Het
Bves C T 10: 45,223,961 (GRCm39) T207M probably damaging Het
Dlg5 T C 14: 24,226,676 (GRCm39) S409G probably benign Het
Ehmt2 C T 17: 35,125,757 (GRCm39) T607I probably benign Het
H2-T22 A T 17: 36,351,161 (GRCm39) I307N possibly damaging Het
Itih3 T C 14: 30,630,665 (GRCm39) D882G probably damaging Het
Kmt5c G T 7: 4,745,252 (GRCm39) R81L possibly damaging Het
Mcm3ap C T 10: 76,313,748 (GRCm39) probably benign Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nr1i2 A G 16: 38,073,245 (GRCm39) S244P probably damaging Het
Pcx A G 19: 4,652,058 (GRCm39) D101G possibly damaging Het
Prkch T C 12: 73,632,163 (GRCm39) V76A probably damaging Het
Skic3 A G 13: 76,279,533 (GRCm39) Y655C probably damaging Het
Thsd1 A G 8: 22,749,384 (GRCm39) K691E possibly damaging Het
Tmprss11e G A 5: 86,863,477 (GRCm39) T196I probably damaging Het
Trappc13 A G 13: 104,286,624 (GRCm39) V211A probably damaging Het
Vav1 C A 17: 57,610,849 (GRCm39) L472I probably benign Het
Wdr25 G A 12: 108,992,465 (GRCm39) E459K probably damaging Het
Zdbf2 A T 1: 63,342,786 (GRCm39) E388D possibly damaging Het
Zfp663 T C 2: 165,195,890 (GRCm39) K110E probably benign Het
Other mutations in Zfp78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Zfp78 APN 7 6,378,587 (GRCm39) missense possibly damaging 0.90
R0502:Zfp78 UTSW 7 6,376,157 (GRCm39) missense probably damaging 1.00
R0704:Zfp78 UTSW 7 6,382,251 (GRCm39) missense probably damaging 1.00
R1035:Zfp78 UTSW 7 6,381,660 (GRCm39) missense probably damaging 1.00
R1402:Zfp78 UTSW 7 6,381,618 (GRCm39) missense probably damaging 1.00
R1908:Zfp78 UTSW 7 6,381,897 (GRCm39) missense probably damaging 0.97
R1955:Zfp78 UTSW 7 6,381,558 (GRCm39) missense probably benign 0.00
R2004:Zfp78 UTSW 7 6,382,074 (GRCm39) missense probably damaging 1.00
R2025:Zfp78 UTSW 7 6,378,513 (GRCm39) splice site probably null
R2357:Zfp78 UTSW 7 6,382,056 (GRCm39) missense probably damaging 1.00
R5503:Zfp78 UTSW 7 6,381,528 (GRCm39) missense probably benign
R6742:Zfp78 UTSW 7 6,381,277 (GRCm39) missense probably damaging 0.97
R6996:Zfp78 UTSW 7 6,381,764 (GRCm39) missense probably benign 0.38
R7944:Zfp78 UTSW 7 6,381,589 (GRCm39) missense possibly damaging 0.53
R7949:Zfp78 UTSW 7 6,382,365 (GRCm39) missense possibly damaging 0.89
R8186:Zfp78 UTSW 7 6,376,228 (GRCm39) missense probably damaging 1.00
R8272:Zfp78 UTSW 7 6,376,213 (GRCm39) missense probably benign 0.01
R8429:Zfp78 UTSW 7 6,381,492 (GRCm39) missense probably benign 0.05
R8675:Zfp78 UTSW 7 6,381,280 (GRCm39) missense probably benign 0.16
R8959:Zfp78 UTSW 7 6,382,380 (GRCm39) missense probably damaging 0.97
R9184:Zfp78 UTSW 7 6,382,300 (GRCm39) missense probably damaging 0.96
R9289:Zfp78 UTSW 7 6,381,367 (GRCm39) missense probably benign 0.03
R9343:Zfp78 UTSW 7 6,381,942 (GRCm39) missense probably damaging 1.00
R9364:Zfp78 UTSW 7 6,382,354 (GRCm39) missense probably benign 0.04
R9406:Zfp78 UTSW 7 6,382,182 (GRCm39) missense probably benign 0.03
R9564:Zfp78 UTSW 7 6,381,390 (GRCm39) missense probably benign 0.20
R9615:Zfp78 UTSW 7 6,382,074 (GRCm39) missense probably damaging 1.00
R9616:Zfp78 UTSW 7 6,382,078 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GCAGTGGAGAACACTACAAGTCTTGG -3'
(R):5'- CAGTGAGGTATGAATTCTGGCTGAAGG -3'

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