Incidental Mutation 'R5309:Zfp949'
ID 404726
Institutional Source Beutler Lab
Gene Symbol Zfp949
Ensembl Gene ENSMUSG00000032425
Gene Name zinc finger protein 949
Synonyms 4930422I07Rik, Nczf
MMRRC Submission 042892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5309 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 88430073-88453114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88449236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 14 (T14P)
Ref Sequence ENSEMBL: ENSMUSP00000125325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160652] [ENSMUST00000161458] [ENSMUST00000162827]
AlphaFold E9Q732
Predicted Effect possibly damaging
Transcript: ENSMUST00000160652
AA Change: T14P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000161458
AA Change: T14P

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125017
Gene: ENSMUSG00000032425
AA Change: T14P

DomainStartEndE-ValueType
KRAB 8 68 2.63e-32 SMART
ZnF_C2H2 268 290 5.99e1 SMART
ZnF_C2H2 296 318 5.5e-3 SMART
ZnF_C2H2 324 346 6.42e-4 SMART
ZnF_C2H2 352 374 2.91e-2 SMART
ZnF_C2H2 380 402 4.11e-2 SMART
ZnF_C2H2 408 430 3.63e-3 SMART
ZnF_C2H2 436 458 5.67e-5 SMART
ZnF_C2H2 464 486 7.9e-4 SMART
ZnF_C2H2 492 514 2.43e-4 SMART
ZnF_C2H2 520 542 2.95e-3 SMART
ZnF_C2H2 548 570 1.03e-2 SMART
ZnF_C2H2 576 598 1.4e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000162827
AA Change: T14P

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125325
Gene: ENSMUSG00000032425
AA Change: T14P

DomainStartEndE-ValueType
KRAB 8 68 2.63e-32 SMART
ZnF_C2H2 268 290 5.99e1 SMART
ZnF_C2H2 296 318 5.5e-3 SMART
ZnF_C2H2 324 346 6.42e-4 SMART
ZnF_C2H2 352 374 2.91e-2 SMART
ZnF_C2H2 380 402 4.11e-2 SMART
ZnF_C2H2 408 430 3.63e-3 SMART
ZnF_C2H2 436 458 5.67e-5 SMART
ZnF_C2H2 464 486 7.9e-4 SMART
ZnF_C2H2 492 514 2.43e-4 SMART
ZnF_C2H2 520 542 2.95e-3 SMART
ZnF_C2H2 548 570 1.03e-2 SMART
ZnF_C2H2 576 598 1.4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162985
SMART Domains Protein: ENSMUSP00000124007
Gene: ENSMUSG00000032425

DomainStartEndE-ValueType
KRAB 8 68 2.63e-32 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 99% (68/69)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis with defects in growth, development, cell proliferation, apoptosis and turning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik T C 6: 132,603,540 (GRCm39) Q72R unknown Het
Abca15 T C 7: 119,944,592 (GRCm39) V409A probably damaging Het
Abcg3 A C 5: 105,084,465 (GRCm39) C577G possibly damaging Het
Adamtsl5 A T 10: 80,180,982 (GRCm39) probably benign Het
Adgrg3 G A 8: 95,766,492 (GRCm39) V388I probably benign Het
Ank2 T C 3: 126,753,417 (GRCm39) Q288R probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdh3 A G 8: 107,265,652 (GRCm39) T232A probably damaging Het
Cfap210 T C 2: 69,617,602 (GRCm39) T60A possibly damaging Het
Cntnap5c A T 17: 58,666,249 (GRCm39) E1093V probably benign Het
Cplx3 A T 9: 57,518,360 (GRCm39) L343Q probably damaging Het
Cwh43 A G 5: 73,574,110 (GRCm39) H258R probably benign Het
Cyp2j6 T A 4: 96,423,793 (GRCm39) I192F probably damaging Het
Dnaaf5 T A 5: 139,138,617 (GRCm39) V266E probably damaging Het
Egfr G A 11: 16,861,703 (GRCm39) G1161S probably benign Het
Ehmt1 A G 2: 24,774,207 (GRCm39) V201A probably damaging Het
Exoc7 C A 11: 116,195,853 (GRCm39) E28* probably null Het
Fam118a C T 15: 84,934,956 (GRCm39) T195M probably damaging Het
Fancg A G 4: 43,003,019 (GRCm39) F613L probably benign Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Gnal G A 18: 67,346,178 (GRCm39) R219K possibly damaging Het
Helz2 T A 2: 180,876,639 (GRCm39) E1285V probably benign Het
Ighv1-74 A G 12: 115,766,501 (GRCm39) S39P probably damaging Het
Ipo11 T C 13: 106,970,481 (GRCm39) probably benign Het
Klc1 A G 12: 111,762,055 (GRCm39) K575R possibly damaging Het
Larp1 T C 11: 57,941,634 (GRCm39) V689A possibly damaging Het
Mki67 A T 7: 135,302,559 (GRCm39) V825E probably damaging Het
Mmp9 T A 2: 164,792,715 (GRCm39) probably benign Het
Myog A G 1: 134,218,064 (GRCm39) K91E probably damaging Het
Nfil3 A T 13: 53,121,656 (GRCm39) V416E probably damaging Het
Nup160 G T 2: 90,563,176 (GRCm39) E1314* probably null Het
Or4g17 T C 2: 111,210,179 (GRCm39) V278A possibly damaging Het
Or4k35 T G 2: 111,100,655 (GRCm39) D19A probably benign Het
Or6c66b A C 10: 129,377,134 (GRCm39) M243L probably benign Het
Or6c75 T A 10: 129,337,383 (GRCm39) V210E probably damaging Het
Osbpl8 T A 10: 111,106,418 (GRCm39) V275E probably benign Het
Osbpl9 A G 4: 108,923,352 (GRCm39) S520P probably damaging Het
Ppp4r4 T A 12: 103,573,147 (GRCm39) probably null Het
Proz T C 8: 13,111,049 (GRCm39) L7P probably damaging Het
Ptpn13 G A 5: 103,688,919 (GRCm39) S904N probably damaging Het
Rap1gds1 A G 3: 138,664,389 (GRCm39) L322P probably damaging Het
Rnf5 A G 17: 34,820,562 (GRCm39) F175S probably benign Het
Sema4a G A 3: 88,344,343 (GRCm39) S636F probably damaging Het
Sfrp2 A G 3: 83,676,708 (GRCm39) D193G probably damaging Het
Shoc2 T C 19: 53,976,164 (GRCm39) V18A probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc10a6 A T 5: 103,756,958 (GRCm39) C269S probably damaging Het
Slc34a2 A G 5: 53,226,830 (GRCm39) E651G probably damaging Het
Snx13 C T 12: 35,194,324 (GRCm39) Q956* probably null Het
Spg21 A G 9: 65,376,084 (GRCm39) I31V probably benign Het
Srpk2 T C 5: 23,730,716 (GRCm39) K268E probably damaging Het
Supt16 T C 14: 52,400,155 (GRCm39) E996G probably damaging Het
Syf2 A G 4: 134,663,380 (GRCm39) D184G probably benign Het
Tmem45a2 T C 16: 56,859,370 (GRCm39) D287G possibly damaging Het
Utrn A T 10: 12,603,513 (GRCm39) D627E probably damaging Het
Vmn1r170 T A 7: 23,305,880 (GRCm39) I94N probably damaging Het
Vmn2r103 A T 17: 20,013,296 (GRCm39) N139I probably benign Het
Vmn2r15 T A 5: 109,440,956 (GRCm39) I301F probably damaging Het
Vps35l T C 7: 118,412,799 (GRCm39) I629T probably damaging Het
Other mutations in Zfp949
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03201:Zfp949 APN 9 88,450,717 (GRCm39) missense probably benign 0.23
R0034:Zfp949 UTSW 9 88,449,693 (GRCm39) intron probably benign
R0462:Zfp949 UTSW 9 88,450,787 (GRCm39) missense possibly damaging 0.63
R1457:Zfp949 UTSW 9 88,451,891 (GRCm39) missense probably damaging 1.00
R1574:Zfp949 UTSW 9 88,451,830 (GRCm39) nonsense probably null
R1574:Zfp949 UTSW 9 88,451,830 (GRCm39) nonsense probably null
R1878:Zfp949 UTSW 9 88,451,356 (GRCm39) missense probably damaging 0.99
R1917:Zfp949 UTSW 9 88,452,115 (GRCm39) missense probably damaging 0.98
R4488:Zfp949 UTSW 9 88,452,142 (GRCm39) missense probably damaging 0.98
R4839:Zfp949 UTSW 9 88,452,047 (GRCm39) missense probably damaging 0.97
R5312:Zfp949 UTSW 9 88,449,236 (GRCm39) missense possibly damaging 0.92
R5461:Zfp949 UTSW 9 88,451,537 (GRCm39) missense probably benign 0.00
R6530:Zfp949 UTSW 9 88,449,340 (GRCm39) critical splice donor site probably null
R6844:Zfp949 UTSW 9 88,451,464 (GRCm39) missense possibly damaging 0.91
R7749:Zfp949 UTSW 9 88,451,923 (GRCm39) missense probably damaging 1.00
R7937:Zfp949 UTSW 9 88,451,323 (GRCm39) missense probably damaging 1.00
R8150:Zfp949 UTSW 9 88,452,053 (GRCm39) missense probably benign
R8290:Zfp949 UTSW 9 88,451,293 (GRCm39) missense probably damaging 0.98
R8349:Zfp949 UTSW 9 88,449,302 (GRCm39) missense possibly damaging 0.84
R8449:Zfp949 UTSW 9 88,449,302 (GRCm39) missense possibly damaging 0.84
R8808:Zfp949 UTSW 9 88,451,417 (GRCm39) missense probably damaging 1.00
R8949:Zfp949 UTSW 9 88,450,771 (GRCm39) missense possibly damaging 0.78
R9219:Zfp949 UTSW 9 88,451,723 (GRCm39) missense probably damaging 1.00
R9396:Zfp949 UTSW 9 88,449,260 (GRCm39) missense probably damaging 0.99
R9486:Zfp949 UTSW 9 88,452,182 (GRCm39) missense probably benign 0.01
R9488:Zfp949 UTSW 9 88,452,182 (GRCm39) missense probably benign 0.01
R9643:Zfp949 UTSW 9 88,436,500 (GRCm39) start gained probably benign
R9727:Zfp949 UTSW 9 88,451,913 (GRCm39) nonsense probably null
R9778:Zfp949 UTSW 9 88,449,340 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CAATCAATGACATCAGGATGGG -3'
(R):5'- CGTGGCCTAAAACCTTAGCTC -3'

Sequencing Primer
(F):5'- ATCCGTAATGAGATCTGATGCCC -3'
(R):5'- GTGGCCTAAAACCTTAGCTCTCAAC -3'
Posted On 2016-07-22