Incidental Mutation 'R0127:Znfx1'
ID 21431
Institutional Source Beutler Lab
Gene Symbol Znfx1
Ensembl Gene ENSMUSG00000039501
Gene Name zinc finger, NFX1-type containing 1
Synonyms
MMRRC Submission 038412-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0127 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 166877713-166904935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166886130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 810 (E810G)
Ref Sequence ENSEMBL: ENSMUSP00000121750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048988] [ENSMUST00000067584] [ENSMUST00000128676] [ENSMUST00000155281]
AlphaFold Q8R151
Predicted Effect probably benign
Transcript: ENSMUST00000048988
AA Change: E810G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: E810G

DomainStartEndE-ValueType
Pfam:AAA_11 590 855 2.2e-17 PFAM
Pfam:AAA_19 597 684 1.7e-10 PFAM
Pfam:AAA_11 829 1033 1.4e-18 PFAM
Pfam:AAA_12 1044 1228 3.7e-42 PFAM
internal_repeat_2 1281 1374 1.33e-7 PROSPERO
internal_repeat_1 1292 1410 1.32e-16 PROSPERO
low complexity region 1422 1433 N/A INTRINSIC
internal_repeat_1 1434 1547 1.32e-16 PROSPERO
internal_repeat_2 1453 1555 1.33e-7 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000067584
SMART Domains Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501

DomainStartEndE-ValueType
Pfam:AAA_11 8 170 1.2e-17 PFAM
Pfam:AAA_12 180 364 7.4e-42 PFAM
internal_repeat_2 417 510 1.08e-6 PROSPERO
internal_repeat_1 428 546 1.81e-14 PROSPERO
low complexity region 558 569 N/A INTRINSIC
internal_repeat_1 570 683 1.81e-14 PROSPERO
internal_repeat_2 589 691 1.08e-6 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000128676
AA Change: E810G

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: E810G

DomainStartEndE-ValueType
Pfam:AAA_11 590 837 1.8e-17 PFAM
Pfam:AAA_19 597 684 3.4e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155281
AA Change: E810G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: E810G

DomainStartEndE-ValueType
Pfam:AAA_11 590 854 1.7e-17 PFAM
Pfam:AAA_19 597 684 3.6e-11 PFAM
Meta Mutation Damage Score 0.0764 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 99% (85/86)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,342 (GRCm39) T152A probably benign Het
Abca1 T C 4: 53,067,155 (GRCm39) I1351V probably benign Het
Acap1 A T 11: 69,778,043 (GRCm39) probably benign Het
Als2cl T C 9: 110,720,935 (GRCm39) L521P probably damaging Het
Ankrd50 T C 3: 38,510,384 (GRCm39) D661G probably benign Het
Atp6v1b2 T A 8: 69,556,112 (GRCm39) N262K probably damaging Het
Baz1a T A 12: 54,945,491 (GRCm39) D1288V possibly damaging Het
Bbs1 A T 19: 4,945,057 (GRCm39) D371E probably benign Het
Bphl A G 13: 34,248,029 (GRCm39) probably benign Het
Caskin2 C A 11: 115,691,820 (GRCm39) R988S probably damaging Het
Cbr1 C A 16: 93,406,875 (GRCm39) T197N probably damaging Het
Ccdc88c T C 12: 100,901,999 (GRCm39) E1213G possibly damaging Het
Ccna1 A G 3: 54,957,169 (GRCm39) F83L probably damaging Het
Cep290 T A 10: 100,372,787 (GRCm39) probably benign Het
Cep89 C A 7: 35,127,687 (GRCm39) T543K possibly damaging Het
Cmtm7 T C 9: 114,610,738 (GRCm39) M45V probably benign Het
Col16a1 T A 4: 129,946,650 (GRCm39) V91E probably damaging Het
Csmd3 T C 15: 47,845,326 (GRCm39) N920S probably benign Het
Cyp26b1 A G 6: 84,554,190 (GRCm39) probably benign Het
Dao T A 5: 114,158,024 (GRCm39) H215Q probably damaging Het
Dido1 T C 2: 180,313,617 (GRCm39) D885G probably benign Het
Dlx4 T G 11: 95,032,055 (GRCm39) M240L probably benign Het
Dnah5 C T 15: 28,295,071 (GRCm39) P1351L probably damaging Het
Dnah6 T A 6: 73,015,717 (GRCm39) probably benign Het
Dock5 A T 14: 68,083,491 (GRCm39) D139E probably benign Het
Dynlt5 T C 4: 102,859,649 (GRCm39) probably benign Het
Fam234b T C 6: 135,195,821 (GRCm39) probably benign Het
Fat2 T C 11: 55,180,112 (GRCm39) T1410A probably benign Het
Fsip2 T A 2: 82,815,269 (GRCm39) N3667K probably benign Het
Gm5114 T C 7: 39,057,880 (GRCm39) I580V probably benign Het
Hapln1 A T 13: 89,755,988 (GRCm39) Y264F probably benign Het
Heatr5a A G 12: 51,972,188 (GRCm39) V694A probably benign Het
Hps1 A G 19: 42,759,550 (GRCm39) probably benign Het
Igsf9b G T 9: 27,245,681 (GRCm39) R1216L possibly damaging Het
Il4ra G T 7: 125,168,242 (GRCm39) C87F probably damaging Het
Kmt5b A G 19: 3,836,465 (GRCm39) M1V probably null Het
Krit1 A G 5: 3,872,178 (GRCm39) E401G probably damaging Het
Lamp1 T C 8: 13,224,491 (GRCm39) V385A probably damaging Het
Ly6g5b A G 17: 35,333,567 (GRCm39) Y82H probably damaging Het
Mapre2 A G 18: 23,937,232 (GRCm39) I25V probably benign Het
Mep1a A G 17: 43,808,777 (GRCm39) probably benign Het
Mkrn1 A G 6: 39,376,209 (GRCm39) W466R probably benign Het
Muc2 C A 7: 141,302,691 (GRCm39) F11L probably benign Het
Nebl T A 2: 17,397,794 (GRCm39) M501L probably benign Het
Oga A T 19: 45,760,327 (GRCm39) I277N probably damaging Het
Or11g2 A G 14: 50,855,789 (GRCm39) I37V probably benign Het
Or4p18 A G 2: 88,232,699 (GRCm39) V193A probably benign Het
Or5w8 A G 2: 87,687,827 (GRCm39) I103V probably benign Het
Or8g32 A G 9: 39,305,238 (GRCm39) I50M probably benign Het
Pkd1l2 A G 8: 117,776,787 (GRCm39) probably benign Het
Pkhd1l1 A G 15: 44,418,001 (GRCm39) M2886V probably damaging Het
Pop5 T A 5: 115,378,230 (GRCm39) L58H probably damaging Het
Prkch C A 12: 73,768,561 (GRCm39) H444N possibly damaging Het
Reln T C 5: 22,209,134 (GRCm39) D1148G probably damaging Het
Rffl G A 11: 82,703,458 (GRCm39) T120M probably damaging Het
Rmdn2 A T 17: 79,977,998 (GRCm39) S320C probably damaging Het
Rrbp1 C T 2: 143,831,864 (GRCm39) R101H probably benign Het
Rtf1 G A 2: 119,557,224 (GRCm39) R443H probably damaging Het
Serac1 G T 17: 6,099,115 (GRCm39) L559I probably damaging Het
Slc12a1 A G 2: 125,061,682 (GRCm39) R958G probably damaging Het
Slc15a3 T A 19: 10,833,350 (GRCm39) W456R probably damaging Het
Slc28a2b T A 2: 122,347,550 (GRCm39) probably null Het
Slc35f5 C T 1: 125,503,942 (GRCm39) P290L probably damaging Het
Slc35g2 C T 9: 100,435,170 (GRCm39) R167Q probably benign Het
Spag4 T C 2: 155,909,962 (GRCm39) V302A probably damaging Het
Spire2 A C 8: 124,084,836 (GRCm39) probably benign Het
Sptbn2 G T 19: 4,774,772 (GRCm39) V142L probably damaging Het
Syt17 T A 7: 118,009,164 (GRCm39) D352V probably damaging Het
Tars3 A T 7: 65,314,717 (GRCm39) D425V probably benign Het
Thsd7a A G 6: 12,554,907 (GRCm39) S326P probably benign Het
Tnpo2 T C 8: 85,767,257 (GRCm39) S64P probably damaging Het
Tonsl G T 15: 76,517,685 (GRCm39) A678D probably benign Het
Trim12c A G 7: 103,990,113 (GRCm39) probably null Het
Tsc22d1 A G 14: 76,656,421 (GRCm39) T885A possibly damaging Het
Ttn T C 2: 76,572,542 (GRCm39) D26117G probably damaging Het
Ttn T A 2: 76,707,355 (GRCm39) probably benign Het
Ugt3a1 T C 15: 9,306,342 (GRCm39) F164L probably benign Het
Vmn2r89 A G 14: 51,693,160 (GRCm39) N170S probably damaging Het
Vrk2 G T 11: 26,484,313 (GRCm39) probably benign Het
Wt1 C A 2: 104,963,802 (GRCm39) D207E probably damaging Het
Zbtb46 G A 2: 181,053,608 (GRCm39) A368V probably benign Het
Zc3h13 A T 14: 75,560,694 (GRCm39) D428V unknown Het
Zcchc8 C G 5: 123,845,400 (GRCm39) G320A probably damaging Het
Other mutations in Znfx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Znfx1 APN 2 166,878,649 (GRCm39) missense possibly damaging 0.65
IGL00492:Znfx1 APN 2 166,878,843 (GRCm39) missense probably damaging 1.00
IGL01285:Znfx1 APN 2 166,880,615 (GRCm39) missense possibly damaging 0.76
IGL01343:Znfx1 APN 2 166,879,283 (GRCm39) missense probably benign 0.16
IGL01767:Znfx1 APN 2 166,897,643 (GRCm39) missense probably damaging 1.00
IGL01983:Znfx1 APN 2 166,898,270 (GRCm39) missense probably damaging 1.00
IGL02006:Znfx1 APN 2 166,897,683 (GRCm39) missense probably damaging 1.00
IGL02254:Znfx1 APN 2 166,897,643 (GRCm39) missense probably damaging 1.00
IGL02421:Znfx1 APN 2 166,902,000 (GRCm39) missense probably damaging 0.97
IGL02496:Znfx1 APN 2 166,889,550 (GRCm39) missense possibly damaging 0.83
IGL02525:Znfx1 APN 2 166,879,457 (GRCm39) missense probably benign 0.00
IGL02528:Znfx1 APN 2 166,892,324 (GRCm39) missense probably benign 0.11
IGL02537:Znfx1 APN 2 166,898,087 (GRCm39) missense probably benign 0.37
IGL03065:Znfx1 APN 2 166,897,685 (GRCm39) missense probably benign 0.00
raywing UTSW 2 166,879,738 (GRCm39) missense probably damaging 1.00
sharkfin UTSW 2 166,898,237 (GRCm39) missense probably benign 0.03
skate UTSW 2 166,880,137 (GRCm39) missense probably benign 0.06
R0331:Znfx1 UTSW 2 166,888,898 (GRCm39) missense probably benign 0.11
R0488:Znfx1 UTSW 2 166,884,483 (GRCm39) missense possibly damaging 0.52
R0497:Znfx1 UTSW 2 166,897,331 (GRCm39) missense probably benign 0.03
R0537:Znfx1 UTSW 2 166,883,621 (GRCm39) missense probably damaging 1.00
R0542:Znfx1 UTSW 2 166,897,575 (GRCm39) missense probably damaging 1.00
R0650:Znfx1 UTSW 2 166,889,574 (GRCm39) nonsense probably null
R0655:Znfx1 UTSW 2 166,898,827 (GRCm39) missense probably damaging 1.00
R1104:Znfx1 UTSW 2 166,897,560 (GRCm39) nonsense probably null
R1470:Znfx1 UTSW 2 166,884,507 (GRCm39) missense possibly damaging 0.91
R1470:Znfx1 UTSW 2 166,884,507 (GRCm39) missense possibly damaging 0.91
R1512:Znfx1 UTSW 2 166,898,237 (GRCm39) missense probably benign 0.03
R1533:Znfx1 UTSW 2 166,898,708 (GRCm39) missense probably benign 0.10
R1541:Znfx1 UTSW 2 166,898,110 (GRCm39) missense probably damaging 0.99
R1642:Znfx1 UTSW 2 166,880,930 (GRCm39) missense possibly damaging 0.95
R1720:Znfx1 UTSW 2 166,885,986 (GRCm39) nonsense probably null
R1760:Znfx1 UTSW 2 166,881,786 (GRCm39) missense probably damaging 0.96
R1865:Znfx1 UTSW 2 166,880,729 (GRCm39) missense probably damaging 1.00
R1959:Znfx1 UTSW 2 166,892,270 (GRCm39) missense probably damaging 1.00
R2088:Znfx1 UTSW 2 166,897,730 (GRCm39) missense probably damaging 1.00
R4581:Znfx1 UTSW 2 166,892,236 (GRCm39) missense probably damaging 1.00
R4622:Znfx1 UTSW 2 166,883,673 (GRCm39) missense possibly damaging 0.91
R4649:Znfx1 UTSW 2 166,898,276 (GRCm39) missense probably benign 0.08
R4685:Znfx1 UTSW 2 166,880,950 (GRCm39) missense probably damaging 1.00
R4798:Znfx1 UTSW 2 166,880,489 (GRCm39) splice site probably null
R4827:Znfx1 UTSW 2 166,886,151 (GRCm39) missense possibly damaging 0.77
R4870:Znfx1 UTSW 2 166,897,189 (GRCm39) missense probably benign
R4910:Znfx1 UTSW 2 166,879,402 (GRCm39) missense probably benign 0.00
R4910:Znfx1 UTSW 2 166,878,724 (GRCm39) missense probably damaging 1.00
R5022:Znfx1 UTSW 2 166,881,746 (GRCm39) missense probably damaging 1.00
R5023:Znfx1 UTSW 2 166,881,746 (GRCm39) missense probably damaging 1.00
R5057:Znfx1 UTSW 2 166,881,746 (GRCm39) missense probably damaging 1.00
R5061:Znfx1 UTSW 2 166,907,318 (GRCm39) unclassified probably benign
R5119:Znfx1 UTSW 2 166,907,307 (GRCm39) unclassified probably benign
R5125:Znfx1 UTSW 2 166,888,859 (GRCm39) missense possibly damaging 0.81
R5896:Znfx1 UTSW 2 166,880,920 (GRCm39) missense probably damaging 1.00
R6107:Znfx1 UTSW 2 166,879,001 (GRCm39) missense possibly damaging 0.67
R6112:Znfx1 UTSW 2 166,880,126 (GRCm39) missense probably benign
R6158:Znfx1 UTSW 2 166,898,646 (GRCm39) missense probably benign 0.19
R6281:Znfx1 UTSW 2 166,897,805 (GRCm39) missense probably damaging 1.00
R6464:Znfx1 UTSW 2 166,888,842 (GRCm39) missense probably benign 0.34
R6749:Znfx1 UTSW 2 166,898,519 (GRCm39) missense probably benign 0.00
R6888:Znfx1 UTSW 2 166,880,860 (GRCm39) missense possibly damaging 0.91
R6973:Znfx1 UTSW 2 166,898,681 (GRCm39) missense probably benign 0.18
R7017:Znfx1 UTSW 2 166,890,454 (GRCm39) missense probably damaging 1.00
R7138:Znfx1 UTSW 2 166,898,697 (GRCm39) missense probably benign 0.03
R7192:Znfx1 UTSW 2 166,884,110 (GRCm39) missense probably benign 0.00
R7426:Znfx1 UTSW 2 166,890,475 (GRCm39) missense probably damaging 1.00
R7431:Znfx1 UTSW 2 166,897,712 (GRCm39) missense probably damaging 1.00
R7473:Znfx1 UTSW 2 166,880,744 (GRCm39) missense probably damaging 1.00
R7593:Znfx1 UTSW 2 166,898,145 (GRCm39) missense probably benign 0.28
R7732:Znfx1 UTSW 2 166,884,589 (GRCm39) missense possibly damaging 0.91
R7835:Znfx1 UTSW 2 166,881,747 (GRCm39) missense probably damaging 1.00
R7993:Znfx1 UTSW 2 166,897,857 (GRCm39) nonsense probably null
R8154:Znfx1 UTSW 2 166,897,157 (GRCm39) missense probably damaging 1.00
R8351:Znfx1 UTSW 2 166,897,575 (GRCm39) missense probably damaging 1.00
R8790:Znfx1 UTSW 2 166,892,500 (GRCm39) intron probably benign
R8953:Znfx1 UTSW 2 166,897,421 (GRCm39) missense probably damaging 1.00
R9005:Znfx1 UTSW 2 166,880,656 (GRCm39) missense
R9131:Znfx1 UTSW 2 166,892,298 (GRCm39) missense probably benign
R9163:Znfx1 UTSW 2 166,898,261 (GRCm39) missense probably damaging 1.00
R9169:Znfx1 UTSW 2 166,897,185 (GRCm39) missense probably benign
R9181:Znfx1 UTSW 2 166,880,137 (GRCm39) missense probably benign 0.06
R9181:Znfx1 UTSW 2 166,879,738 (GRCm39) missense probably damaging 1.00
R9300:Znfx1 UTSW 2 166,897,860 (GRCm39) missense probably damaging 1.00
R9448:Znfx1 UTSW 2 166,888,844 (GRCm39) missense probably benign 0.04
R9569:Znfx1 UTSW 2 166,897,875 (GRCm39) missense
X0064:Znfx1 UTSW 2 166,897,176 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCCTCTCTTTCAGGCAAGGAAGC -3'
(R):5'- GCAGTGACACTCTTTCTCTGCAACC -3'

Sequencing Primer
(F):5'- GCTGTAGTCCCAGGCACTTC -3'
(R):5'- cactctttctcTGCAACCTCTCC -3'
Posted On 2013-04-11