Incidental Mutation 'R3707:Zfx'
ID 258769
Institutional Source Beutler Lab
Gene Symbol Zfx
Ensembl Gene ENSMUSG00000079509
Gene Name zinc finger protein X-linked
Synonyms Zfx5,6, Zfx6, Zfx5
MMRRC Submission 040700-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R3707 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 93118237-93167308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93142413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 36 (V36A)
Ref Sequence ENSEMBL: ENSMUSP00000109558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088102] [ENSMUST00000113925] [ENSMUST00000113926] [ENSMUST00000113927] [ENSMUST00000137853]
AlphaFold P17012
Predicted Effect probably benign
Transcript: ENSMUST00000088102
AA Change: V36A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000085423
Gene: ENSMUSG00000079509
AA Change: V36A

DomainStartEndE-ValueType
Pfam:Zfx_Zfy_act 71 404 9.2e-153 PFAM
ZnF_C2H2 419 441 2.65e-5 SMART
ZnF_C2H2 450 472 1.45e-2 SMART
ZnF_C2H2 482 504 7.26e-3 SMART
ZnF_C2H2 513 536 3.11e-2 SMART
ZnF_C2H2 542 564 3.69e-4 SMART
ZnF_C2H2 570 593 4.79e-3 SMART
ZnF_C2H2 599 621 2.02e-1 SMART
ZnF_C2H2 627 650 1.53e-1 SMART
ZnF_C2H2 656 678 2.57e-3 SMART
ZnF_C2H2 684 707 3.52e-1 SMART
ZnF_C2H2 713 735 1.12e-3 SMART
ZnF_C2H2 741 764 1.28e-3 SMART
ZnF_C2H2 770 792 2.91e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113925
AA Change: V36A

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109558
Gene: ENSMUSG00000079509
AA Change: V36A

DomainStartEndE-ValueType
Pfam:Zfx_Zfy_act 70 217 1.1e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113926
AA Change: V36A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000109559
Gene: ENSMUSG00000079509
AA Change: V36A

DomainStartEndE-ValueType
Pfam:Zfx_Zfy_act 70 404 4.3e-169 PFAM
ZnF_C2H2 419 441 2.65e-5 SMART
ZnF_C2H2 450 472 1.45e-2 SMART
ZnF_C2H2 482 504 7.26e-3 SMART
ZnF_C2H2 513 536 3.11e-2 SMART
ZnF_C2H2 542 564 3.69e-4 SMART
ZnF_C2H2 570 593 4.79e-3 SMART
ZnF_C2H2 599 621 2.02e-1 SMART
ZnF_C2H2 627 650 1.53e-1 SMART
ZnF_C2H2 656 678 2.57e-3 SMART
ZnF_C2H2 684 707 3.52e-1 SMART
ZnF_C2H2 713 735 1.12e-3 SMART
ZnF_C2H2 741 764 1.28e-3 SMART
ZnF_C2H2 770 792 2.91e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113927
AA Change: V36A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000109560
Gene: ENSMUSG00000079509
AA Change: V36A

DomainStartEndE-ValueType
Pfam:Zfx_Zfy_act 70 404 4.3e-169 PFAM
ZnF_C2H2 419 441 2.65e-5 SMART
ZnF_C2H2 450 472 1.45e-2 SMART
ZnF_C2H2 482 504 7.26e-3 SMART
ZnF_C2H2 513 536 3.11e-2 SMART
ZnF_C2H2 542 564 3.69e-4 SMART
ZnF_C2H2 570 593 4.79e-3 SMART
ZnF_C2H2 599 621 2.02e-1 SMART
ZnF_C2H2 627 650 1.53e-1 SMART
ZnF_C2H2 656 678 2.57e-3 SMART
ZnF_C2H2 684 707 3.52e-1 SMART
ZnF_C2H2 713 735 1.12e-3 SMART
ZnF_C2H2 741 764 1.28e-3 SMART
ZnF_C2H2 770 792 2.91e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135661
Predicted Effect possibly damaging
Transcript: ENSMUST00000137853
AA Change: V36A

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118903
Gene: ENSMUSG00000079509
AA Change: V36A

DomainStartEndE-ValueType
Pfam:Zfx_Zfy_act 70 216 5.4e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139695
Meta Mutation Damage Score 0.2146 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]
PHENOTYPE: Male mice hemizygous or female mice homozygous for one knock-out allele exhibit reduced size, viability, and gametes. Another knock-out allele generates mice that exhibit embryonic lethality associated with abnormal extraembryonic tissue and reduction in hematopoietic stem cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Avpr1a T A 10: 122,285,014 (GRCm39) F102Y probably damaging Het
Bcs1l A G 1: 74,629,264 (GRCm39) probably benign Het
Chrng C T 1: 87,138,333 (GRCm39) Q375* probably null Het
Cplane1 T C 15: 8,289,300 (GRCm39) S2917P unknown Het
Cyp2d10 A G 15: 82,287,217 (GRCm39) F469L possibly damaging Het
Dennd6a T C 14: 26,313,546 (GRCm39) probably benign Het
Eef2k C A 7: 120,483,935 (GRCm39) L224I probably damaging Het
Gm10033 G C 8: 69,825,068 (GRCm39) noncoding transcript Het
Gm11545 T C 11: 94,648,385 (GRCm39) noncoding transcript Het
Herpud1 T A 8: 95,118,867 (GRCm39) V207D probably damaging Het
Hmbox1 T C 14: 65,134,285 (GRCm39) Y105C probably benign Het
Ighv1-85 A T 12: 115,963,836 (GRCm39) W55R probably damaging Het
Lgr4 T C 2: 109,801,099 (GRCm39) L83P probably damaging Het
Lrch1 C T 14: 75,095,437 (GRCm39) M134I probably damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Mtg1 A T 7: 139,729,717 (GRCm39) K269M probably damaging Het
Nkain3 A T 4: 20,484,920 (GRCm39) F52L possibly damaging Het
Nr4a3 A T 4: 48,056,699 (GRCm39) Y417F probably damaging Het
Or12e10 T C 2: 87,640,520 (GRCm39) C119R probably damaging Het
Or6c8 T A 10: 128,915,254 (GRCm39) I193F probably benign Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Pdhb T C 14: 8,170,409 (GRCm38) N114S probably damaging Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Pimreg G A 11: 71,937,158 (GRCm39) probably benign Het
Ppfia4 T C 1: 134,237,398 (GRCm39) E967G probably damaging Het
Resf1 C T 6: 149,230,611 (GRCm39) S1219L probably damaging Het
Rif1 T A 2: 51,983,592 (GRCm39) D578E probably damaging Het
Rrbp1 G T 2: 143,795,197 (GRCm39) A1269E probably benign Het
Rufy3 G A 5: 88,790,891 (GRCm39) A531T probably benign Het
Slc22a22 C A 15: 57,114,369 (GRCm39) L319F probably damaging Het
Tapbpl A G 6: 125,201,658 (GRCm39) probably null Het
Tdrd1 T C 19: 56,854,425 (GRCm39) S1124P possibly damaging Het
Top2a T C 11: 98,887,651 (GRCm39) K1286E probably benign Het
Top2b T C 14: 16,388,447 (GRCm38) V188A probably damaging Het
Vmn2r4 A T 3: 64,296,895 (GRCm39) I630N probably damaging Het
Vmn2r53 T C 7: 12,315,981 (GRCm39) T613A possibly damaging Het
Zbtb40 A G 4: 136,726,879 (GRCm39) Y486H probably damaging Het
Zfp715 T C 7: 42,960,553 (GRCm39) T13A probably benign Het
Other mutations in Zfx
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3706:Zfx UTSW X 93,142,413 (GRCm39) missense possibly damaging 0.86
R4133:Zfx UTSW X 93,124,464 (GRCm39) missense probably damaging 0.99
Z1088:Zfx UTSW X 93,123,049 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGATGATGACTGTTTCCG -3'
(R):5'- CTACTTTTGGGGAGAAGTTGAAC -3'

Sequencing Primer
(F):5'- GGATGATGACTGTTTCCGATACATC -3'
(R):5'- GGCATGAGCTTTTGAAACCC -3'
Posted On 2015-01-23