Incidental Mutation 'R0704:Zfp78'
ID 63089
Institutional Source Beutler Lab
Gene Symbol Zfp78
Ensembl Gene ENSMUSG00000055150
Gene Name zinc finger protein 78
Synonyms KRAB12, Zfp77
MMRRC Submission 038887-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R0704 (G1)
Quality Score 103
Status Not validated
Chromosome 7
Chromosomal Location 6366279-6385604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6382251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 402 (C402S)
Ref Sequence ENSEMBL: ENSMUSP00000147228 (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: C402S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083503
Gene: ENSMUSG00000055150
AA Change: C402S

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: C434S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104199
Gene: ENSMUSG00000055150
AA Change: C434S

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: C402S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000207347
AA Change: C434S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208030
AA Change: C402S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208390
AA Change: C402S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208763
Predicted Effect probably benign
Transcript: ENSMUST00000208949
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,643,381 (GRCm39) L441Q probably damaging Het
Abca15 A T 7: 119,953,746 (GRCm39) E550V probably damaging Het
Adcy4 A G 14: 56,010,213 (GRCm39) F690L probably benign Het
Aspg T A 12: 112,080,906 (GRCm39) N132K probably damaging Het
B430305J03Rik A T 3: 61,271,414 (GRCm39) Y110* probably null Het
Cep135 A G 5: 76,778,796 (GRCm39) E741G possibly damaging Het
Cplane1 T C 15: 8,239,567 (GRCm39) V1256A possibly damaging Het
Dkkl1 T C 7: 44,859,539 (GRCm39) K128E probably damaging Het
Duox2 A T 2: 122,115,249 (GRCm39) M1101K probably benign Het
Gpr89 T C 3: 96,787,484 (GRCm39) probably null Het
Hormad1 T C 3: 95,473,997 (GRCm39) probably null Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Itga2 A G 13: 114,998,911 (GRCm39) F658S possibly damaging Het
Kcnc4 T C 3: 107,355,279 (GRCm39) I390V possibly damaging Het
Krt84 G T 15: 101,441,112 (GRCm39) H27N probably benign Het
Lama5 A G 2: 179,821,277 (GRCm39) I3095T possibly damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Ms4a1 T C 19: 11,230,596 (GRCm39) T202A probably benign Het
Nrbp2 A G 15: 75,960,801 (GRCm39) S294P probably damaging Het
Or6b13 A G 7: 139,782,548 (GRCm39) V45A probably benign Het
Or6c215 A G 10: 129,638,172 (GRCm39) V74A probably benign Het
Pde4b C T 4: 102,344,589 (GRCm39) L155F probably damaging Het
Pds5a A G 5: 65,777,928 (GRCm39) S6P probably damaging Het
Ralgapa2 A T 2: 146,293,704 (GRCm39) L150Q probably damaging Het
Reln C T 5: 22,101,809 (GRCm39) V3374I probably damaging Het
Rgs12 T G 5: 35,180,466 (GRCm39) S253A possibly damaging Het
Sap130 C A 18: 31,786,607 (GRCm39) T266K probably damaging Het
Sis T C 3: 72,857,155 (GRCm39) I379V possibly damaging Het
Slc39a10 T A 1: 46,875,021 (GRCm39) I94F possibly damaging Het
Sptb A T 12: 76,630,368 (GRCm39) N2263K probably damaging Het
Srsf12 A G 4: 33,231,069 (GRCm39) R188G probably damaging Het
Ssxb9 T G X: 8,238,022 (GRCm39) S130R probably damaging Het
Tg A G 15: 66,629,729 (GRCm39) D470G probably benign Het
Urb1 T C 16: 90,573,095 (GRCm39) Q979R probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T 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
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
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'- CCTTCAGCCAGAATTCATACCTCACTG -3'
(R):5'- CTACAGGTTCGTAGGCGGCTAAAG -3'

Sequencing Primer
(F):5'- atgaatgtaacgaatgtgggaag -3'
(R):5'- AAGGCCCTTCcacatttctcac -3'
Posted On 2013-07-30