Incidental Mutation 'R6299:Zfp788'
ID 508966
Institutional Source Beutler Lab
Gene Symbol Zfp788
Ensembl Gene ENSMUSG00000074165
Gene Name zinc finger protein 788
Synonyms 2810426N06Rik
MMRRC Submission 044465-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R6299 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 41282955-41300305 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 41297965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 180 (H180Q)
Ref Sequence ENSEMBL: ENSMUSP00000035499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045720] [ENSMUST00000098508] [ENSMUST00000100275] [ENSMUST00000131180] [ENSMUST00000140964] [ENSMUST00000154942] [ENSMUST00000170770]
AlphaFold E9Q980
Predicted Effect possibly damaging
Transcript: ENSMUST00000045720
AA Change: H180Q

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035499
Gene: ENSMUSG00000074165
AA Change: H180Q

DomainStartEndE-ValueType
KRAB 4 67 7.82e-17 SMART
ZnF_C2H2 218 240 2.53e-2 SMART
ZnF_C2H2 246 268 2.71e-2 SMART
ZnF_C2H2 274 296 8.47e-4 SMART
ZnF_C2H2 302 324 3.16e-3 SMART
ZnF_C2H2 330 352 1.38e-3 SMART
ZnF_C2H2 358 380 4.54e-4 SMART
ZnF_C2H2 386 408 1.36e-2 SMART
ZnF_C2H2 414 436 2.24e-3 SMART
ZnF_C2H2 442 464 5.14e-3 SMART
ZnF_C2H2 470 492 5.14e-3 SMART
ZnF_C2H2 498 520 5.42e-2 SMART
ZnF_C2H2 526 548 8.6e-5 SMART
ZnF_C2H2 554 576 1.53e-1 SMART
ZnF_C2H2 582 604 2.4e-3 SMART
ZnF_C2H2 610 632 8.81e-2 SMART
ZnF_C2H2 638 660 9.58e-3 SMART
ZnF_C2H2 666 688 4.54e-4 SMART
ZnF_C2H2 694 716 1.1e-2 SMART
ZnF_C2H2 722 744 3.63e-3 SMART
ZnF_C2H2 750 772 8.94e-3 SMART
ZnF_C2H2 778 800 1.5e-4 SMART
ZnF_C2H2 806 828 4.24e-4 SMART
ZnF_C2H2 834 856 5.06e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098508
AA Change: H200Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096108
Gene: ENSMUSG00000074165
AA Change: H200Q

DomainStartEndE-ValueType
KRAB 24 87 7.82e-17 SMART
ZnF_C2H2 238 260 2.53e-2 SMART
ZnF_C2H2 266 288 2.71e-2 SMART
ZnF_C2H2 294 316 8.47e-4 SMART
ZnF_C2H2 322 344 3.16e-3 SMART
ZnF_C2H2 350 372 1.38e-3 SMART
ZnF_C2H2 378 400 4.54e-4 SMART
ZnF_C2H2 406 428 1.36e-2 SMART
ZnF_C2H2 434 456 2.24e-3 SMART
ZnF_C2H2 462 484 5.14e-3 SMART
ZnF_C2H2 490 512 5.14e-3 SMART
ZnF_C2H2 518 540 5.42e-2 SMART
ZnF_C2H2 546 568 8.6e-5 SMART
ZnF_C2H2 574 596 1.53e-1 SMART
ZnF_C2H2 602 624 2.4e-3 SMART
ZnF_C2H2 630 652 8.81e-2 SMART
ZnF_C2H2 658 680 9.58e-3 SMART
ZnF_C2H2 686 708 4.54e-4 SMART
ZnF_C2H2 714 736 1.1e-2 SMART
ZnF_C2H2 742 764 3.63e-3 SMART
ZnF_C2H2 770 792 8.94e-3 SMART
ZnF_C2H2 798 820 1.5e-4 SMART
ZnF_C2H2 826 848 4.24e-4 SMART
ZnF_C2H2 854 876 5.06e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100275
AA Change: H148Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097847
Gene: ENSMUSG00000074165
AA Change: H148Q

DomainStartEndE-ValueType
Blast:KRAB 1 35 1e-16 BLAST
ZnF_C2H2 186 208 2.53e-2 SMART
ZnF_C2H2 214 236 2.71e-2 SMART
ZnF_C2H2 242 264 8.47e-4 SMART
ZnF_C2H2 270 292 3.16e-3 SMART
ZnF_C2H2 298 320 1.38e-3 SMART
ZnF_C2H2 326 348 4.54e-4 SMART
ZnF_C2H2 354 376 1.36e-2 SMART
ZnF_C2H2 382 404 2.24e-3 SMART
ZnF_C2H2 410 432 5.14e-3 SMART
ZnF_C2H2 438 460 5.14e-3 SMART
ZnF_C2H2 466 488 5.42e-2 SMART
ZnF_C2H2 494 516 8.6e-5 SMART
ZnF_C2H2 522 544 1.53e-1 SMART
ZnF_C2H2 550 572 2.4e-3 SMART
ZnF_C2H2 578 600 8.81e-2 SMART
ZnF_C2H2 606 628 9.58e-3 SMART
ZnF_C2H2 634 656 4.54e-4 SMART
ZnF_C2H2 662 684 1.1e-2 SMART
ZnF_C2H2 690 712 3.63e-3 SMART
ZnF_C2H2 718 740 8.94e-3 SMART
ZnF_C2H2 746 768 1.5e-4 SMART
ZnF_C2H2 774 796 4.24e-4 SMART
ZnF_C2H2 802 824 5.06e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131180
SMART Domains Protein: ENSMUSP00000114542
Gene: ENSMUSG00000074165

DomainStartEndE-ValueType
KRAB 24 87 7.82e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140964
AA Change: H148Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116050
Gene: ENSMUSG00000074165
AA Change: H148Q

DomainStartEndE-ValueType
Blast:KRAB 1 35 4e-17 BLAST
ZnF_C2H2 186 208 2.53e-2 SMART
ZnF_C2H2 214 236 2.71e-2 SMART
ZnF_C2H2 242 264 8.47e-4 SMART
ZnF_C2H2 270 292 3.16e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154942
Predicted Effect probably benign
Transcript: ENSMUST00000170770
AA Change: H148Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132848
Gene: ENSMUSG00000074165
AA Change: H148Q

DomainStartEndE-ValueType
Blast:KRAB 1 35 1e-16 BLAST
ZnF_C2H2 186 208 2.53e-2 SMART
ZnF_C2H2 214 236 2.71e-2 SMART
ZnF_C2H2 242 264 8.47e-4 SMART
ZnF_C2H2 270 292 3.16e-3 SMART
ZnF_C2H2 298 320 1.38e-3 SMART
ZnF_C2H2 326 348 4.54e-4 SMART
ZnF_C2H2 354 376 1.36e-2 SMART
ZnF_C2H2 382 404 2.24e-3 SMART
ZnF_C2H2 410 432 5.14e-3 SMART
ZnF_C2H2 438 460 5.14e-3 SMART
ZnF_C2H2 466 488 5.42e-2 SMART
ZnF_C2H2 494 516 8.6e-5 SMART
ZnF_C2H2 522 544 1.53e-1 SMART
ZnF_C2H2 550 572 2.4e-3 SMART
ZnF_C2H2 578 600 8.81e-2 SMART
ZnF_C2H2 606 628 9.58e-3 SMART
ZnF_C2H2 634 656 4.54e-4 SMART
ZnF_C2H2 662 684 1.1e-2 SMART
ZnF_C2H2 690 712 3.63e-3 SMART
ZnF_C2H2 718 740 8.94e-3 SMART
ZnF_C2H2 746 768 1.5e-4 SMART
ZnF_C2H2 774 796 4.24e-4 SMART
ZnF_C2H2 802 824 5.06e-2 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bms1 G A 6: 118,395,476 (GRCm39) R24W probably damaging Het
C130050O18Rik A T 5: 139,400,126 (GRCm39) S60C probably damaging Het
Cabcoco1 A G 10: 68,272,720 (GRCm39) Y222H probably damaging Het
Cc2d1b T C 4: 108,485,335 (GRCm39) V559A probably benign Het
Cgrrf1 T A 14: 47,077,647 (GRCm39) N46K probably damaging Het
Clca3a1 T C 3: 144,464,275 (GRCm39) D114G probably damaging Het
Clcnkb T A 4: 141,138,034 (GRCm39) L279F probably damaging Het
Cr2 T C 1: 194,850,954 (GRCm39) T151A probably damaging Het
Creb3l3 C T 10: 80,924,447 (GRCm39) E236K probably damaging Het
Dcstamp T A 15: 39,618,599 (GRCm39) V336D probably damaging Het
Dop1a T G 9: 86,386,265 (GRCm39) F379V probably damaging Het
Esf1 T C 2: 139,965,554 (GRCm39) K714R possibly damaging Het
Exoc3l4 A T 12: 111,388,513 (GRCm39) M1L possibly damaging Het
Extl3 T C 14: 65,314,121 (GRCm39) R354G probably benign Het
Fastkd3 T C 13: 68,735,855 (GRCm39) L535P probably damaging Het
Gab2 A G 7: 96,731,066 (GRCm39) T12A probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Golga4 T A 9: 118,386,438 (GRCm39) S1187T probably benign Het
Haus3 A G 5: 34,325,140 (GRCm39) V173A probably benign Het
Herc2 T A 7: 55,784,803 (GRCm39) Y1416N possibly damaging Het
Hspg2 A G 4: 137,272,016 (GRCm39) Y2566C probably damaging Het
Inpp5f A T 7: 128,237,884 (GRCm39) T34S possibly damaging Het
Iqck G A 7: 118,475,485 (GRCm39) G70S unknown Het
Jade1 T C 3: 41,568,160 (GRCm39) F743L probably damaging Het
Kif5a T C 10: 127,069,690 (GRCm39) K845R probably damaging Het
Klhl30 A G 1: 91,285,636 (GRCm39) probably null Het
Map2k1 T C 9: 64,121,772 (GRCm39) D67G possibly damaging Het
Mcm9 A C 10: 53,413,777 (GRCm39) C434W probably damaging Het
Muc4 T G 16: 32,570,853 (GRCm39) S638A possibly damaging Het
Nectin3 A G 16: 46,284,345 (GRCm39) V113A probably damaging Het
Nfya T C 17: 48,699,938 (GRCm39) probably benign Het
Nup155 G T 15: 8,157,922 (GRCm39) A460S possibly damaging Het
Nup210 T C 6: 91,051,270 (GRCm39) E371G possibly damaging Het
Olfm3 T C 3: 114,914,632 (GRCm39) S228P probably damaging Het
Or52n20 C A 7: 104,320,075 (GRCm39) D55E probably benign Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Plin1 A C 7: 79,371,224 (GRCm39) V500G probably benign Het
Ppfia1 A C 7: 144,064,049 (GRCm39) M513R probably benign Het
Ppp1cb T A 5: 32,640,798 (GRCm39) C27* probably null Het
Prss22 T A 17: 24,215,408 (GRCm39) I123F probably damaging Het
Rbm24 G T 13: 46,572,549 (GRCm39) V15L probably damaging Het
Reln T C 5: 22,491,942 (GRCm39) T97A possibly damaging Het
Sipa1l2 T C 8: 126,180,203 (GRCm39) T1065A possibly damaging Het
Sipa1l3 A C 7: 29,065,974 (GRCm39) probably null Het
Snrnp200 T A 2: 127,064,081 (GRCm39) Y689* probably null Het
Srcap T C 7: 127,129,626 (GRCm39) probably benign Het
Sv2a T C 3: 96,095,565 (GRCm39) probably null Het
Tcf12 A T 9: 71,766,211 (GRCm39) V474D probably damaging Het
Tpcn2 A T 7: 144,815,980 (GRCm39) S403T probably damaging Het
Trim65 C A 11: 116,017,377 (GRCm39) A362S probably benign Het
Trmt1 T A 8: 85,423,919 (GRCm39) C36* probably null Het
Trpm8 T A 1: 88,282,201 (GRCm39) L699Q probably damaging Het
Ube2m A C 7: 12,769,797 (GRCm39) I116R probably damaging Het
Ulk1 T C 5: 110,938,963 (GRCm39) K492E possibly damaging Het
Usp40 T A 1: 87,925,649 (GRCm39) K193N probably damaging Het
Vmn1r3 A G 4: 3,185,098 (GRCm39) S70P possibly damaging Het
Vmn2r2 T A 3: 64,024,074 (GRCm39) K836* probably null Het
Vmn2r75 T A 7: 85,814,482 (GRCm39) H337L probably benign Het
Wars1 G A 12: 108,827,309 (GRCm39) T437M probably benign Het
Zdhhc5 T C 2: 84,520,825 (GRCm39) T451A probably benign Het
Zkscan7 A G 9: 122,717,782 (GRCm39) E59G probably damaging Het
Other mutations in Zfp788
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB007:Zfp788 UTSW 7 41,299,049 (GRCm39) nonsense probably null
BB017:Zfp788 UTSW 7 41,299,049 (GRCm39) nonsense probably null
R0207:Zfp788 UTSW 7 41,299,020 (GRCm39) missense probably damaging 1.00
R0320:Zfp788 UTSW 7 41,298,971 (GRCm39) missense probably damaging 1.00
R0608:Zfp788 UTSW 7 41,297,705 (GRCm39) missense possibly damaging 0.53
R1184:Zfp788 UTSW 7 41,297,750 (GRCm39) missense probably damaging 1.00
R1483:Zfp788 UTSW 7 41,298,499 (GRCm39) nonsense probably null
R1985:Zfp788 UTSW 7 41,299,905 (GRCm39) missense probably damaging 0.98
R2030:Zfp788 UTSW 7 41,298,984 (GRCm39) missense probably damaging 1.00
R2207:Zfp788 UTSW 7 41,299,064 (GRCm39) missense probably damaging 0.99
R2313:Zfp788 UTSW 7 41,298,312 (GRCm39) missense probably damaging 0.99
R3791:Zfp788 UTSW 7 41,299,152 (GRCm39) missense probably damaging 0.99
R3872:Zfp788 UTSW 7 41,298,868 (GRCm39) nonsense probably null
R4126:Zfp788 UTSW 7 41,298,860 (GRCm39) missense probably damaging 0.97
R4579:Zfp788 UTSW 7 41,297,018 (GRCm39) missense probably benign 0.00
R4833:Zfp788 UTSW 7 41,296,992 (GRCm39) missense probably benign 0.31
R5076:Zfp788 UTSW 7 41,298,008 (GRCm39) missense possibly damaging 0.93
R5175:Zfp788 UTSW 7 41,298,753 (GRCm39) missense probably damaging 1.00
R5225:Zfp788 UTSW 7 41,298,980 (GRCm39) missense probably benign 0.16
R5364:Zfp788 UTSW 7 41,299,551 (GRCm39) missense probably damaging 1.00
R5427:Zfp788 UTSW 7 41,299,076 (GRCm39) missense possibly damaging 0.82
R5484:Zfp788 UTSW 7 41,299,277 (GRCm39) missense probably damaging 0.96
R5659:Zfp788 UTSW 7 41,299,540 (GRCm39) nonsense probably null
R5917:Zfp788 UTSW 7 41,298,572 (GRCm39) missense probably benign
R6064:Zfp788 UTSW 7 41,297,878 (GRCm39) missense probably benign 0.18
R6128:Zfp788 UTSW 7 41,299,785 (GRCm39) missense probably damaging 1.00
R6144:Zfp788 UTSW 7 41,299,193 (GRCm39) missense probably damaging 0.97
R6182:Zfp788 UTSW 7 41,299,940 (GRCm39) missense probably damaging 0.98
R6823:Zfp788 UTSW 7 41,298,984 (GRCm39) missense probably damaging 1.00
R6974:Zfp788 UTSW 7 41,299,301 (GRCm39) nonsense probably null
R7497:Zfp788 UTSW 7 41,298,275 (GRCm39) missense possibly damaging 0.92
R7930:Zfp788 UTSW 7 41,299,049 (GRCm39) nonsense probably null
R7979:Zfp788 UTSW 7 41,284,324 (GRCm39) critical splice donor site probably null
R8178:Zfp788 UTSW 7 41,298,335 (GRCm39) missense probably damaging 1.00
R8193:Zfp788 UTSW 7 41,298,038 (GRCm39) missense probably benign 0.35
R8195:Zfp788 UTSW 7 41,298,801 (GRCm39) missense probably benign 0.01
R8699:Zfp788 UTSW 7 41,297,840 (GRCm39) missense probably benign 0.13
R8964:Zfp788 UTSW 7 41,297,003 (GRCm39) missense probably damaging 1.00
R9037:Zfp788 UTSW 7 41,298,315 (GRCm39) missense probably damaging 0.99
R9122:Zfp788 UTSW 7 41,299,919 (GRCm39) nonsense probably null
R9133:Zfp788 UTSW 7 41,299,484 (GRCm39) missense
R9256:Zfp788 UTSW 7 41,299,638 (GRCm39) missense probably benign 0.03
R9372:Zfp788 UTSW 7 41,299,708 (GRCm39) nonsense probably null
R9570:Zfp788 UTSW 7 41,300,006 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- CTTGGAAAACAGACCTGAATTCTG -3'
(R):5'- GCTTTACCACACTGTAGGCACC -3'

Sequencing Primer
(F):5'- GACCTGAATTCTGTTACAAGTATTCC -3'
(R):5'- ACACTGTAGGCACCCGTAG -3'
Posted On 2018-04-02