Incidental Mutation 'R9448:Znfx1'
ID 714047
Institutional Source Beutler Lab
Gene Symbol Znfx1
Ensembl Gene ENSMUSG00000039501
Gene Name zinc finger, NFX1-type containing 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9448 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 166877713-166904935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 166888844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 788 (Q788P)
Ref Sequence ENSEMBL: ENSMUSP00000049404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048988] [ENSMUST00000067584] [ENSMUST00000128676] [ENSMUST00000155281]
AlphaFold Q8R151
Predicted Effect probably benign
Transcript: ENSMUST00000048988
AA Change: Q788P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: Q788P

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 probably benign
Transcript: ENSMUST00000128676
AA Change: Q788P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: Q788P

DomainStartEndE-ValueType
Pfam:AAA_11 590 837 1.8e-17 PFAM
Pfam:AAA_19 597 684 3.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155281
AA Change: Q788P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: Q788P

DomainStartEndE-ValueType
Pfam:AAA_11 590 854 1.7e-17 PFAM
Pfam:AAA_19 597 684 3.6e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Adcy1 T C 11: 7,099,575 (GRCm39) V685A possibly damaging Het
Atg9a G T 1: 75,162,849 (GRCm39) T417K probably benign Het
Atp6v1a T A 16: 43,931,872 (GRCm39) K139* probably null Het
Baz1b T C 5: 135,239,656 (GRCm39) I252T probably damaging Het
Ccdc191 T A 16: 43,759,338 (GRCm39) W380R Het
Cep290 T G 10: 100,395,546 (GRCm39) V2118G probably benign Het
Crb2 A G 2: 37,677,773 (GRCm39) D352G probably benign Het
Csmd3 T C 15: 47,460,315 (GRCm39) D2581G Het
Diras2 T A 13: 52,662,122 (GRCm39) T62S possibly damaging Het
Dmrt1 T C 19: 25,523,255 (GRCm39) V202A possibly damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Dph7 A T 2: 24,861,952 (GRCm39) K455M probably damaging Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Ehbp1 T C 11: 22,087,881 (GRCm39) N426S probably benign Het
Exo5 A G 4: 120,778,888 (GRCm39) W326R probably damaging Het
Fam149a T A 8: 45,792,411 (GRCm39) probably null Het
Flii T C 11: 60,606,393 (GRCm39) N1099S probably benign Het
Flvcr1 T C 1: 190,744,406 (GRCm39) T381A possibly damaging Het
Foxl1 T C 8: 121,855,608 (GRCm39) V303A probably benign Het
Fsd1l G T 4: 53,694,826 (GRCm39) E427* probably null Het
Galnt18 A T 7: 111,153,649 (GRCm39) I325N probably damaging Het
Gm5478 T C 15: 101,553,662 (GRCm39) N274S probably damaging Het
Grm7 A T 6: 111,335,193 (GRCm39) T535S probably benign Het
Heatr5b T C 17: 79,068,015 (GRCm39) D1791G probably benign Het
Igkv12-98 T C 6: 68,548,156 (GRCm39) I95T probably damaging Het
Il1rl2 A G 1: 40,366,604 (GRCm39) Y46C probably benign Het
Inhca G T 9: 103,149,781 (GRCm39) Q259K probably benign Het
Kdr T C 5: 76,102,569 (GRCm39) E1186G probably benign Het
Knstrn T C 2: 118,644,975 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Ltbp1 C T 17: 75,666,455 (GRCm39) Q1383* probably null Het
Mep1a T C 17: 43,805,869 (GRCm39) probably null Het
Mep1b A G 18: 21,217,199 (GRCm39) D106G probably damaging Het
Moxd2 T C 6: 40,864,160 (GRCm39) N90S probably benign Het
Ms4a4c T A 19: 11,392,317 (GRCm39) probably null Het
Nlrp4e A T 7: 23,000,956 (GRCm39) M84L probably benign Het
Noc2l C A 4: 156,320,781 (GRCm39) R66S probably benign Het
Nox4 A T 7: 87,045,001 (GRCm39) L580F unknown Het
Numb A G 12: 83,888,990 (GRCm39) probably null Het
Or1l4 A G 2: 37,091,221 (GRCm39) probably benign Het
Or5w13 A T 2: 87,523,824 (GRCm39) V134E probably damaging Het
Parp8 T A 13: 117,039,360 (GRCm39) K274* probably null Het
Pcdh1 G A 18: 38,330,492 (GRCm39) P976L probably damaging Het
Pcnt T C 10: 76,256,360 (GRCm39) K627E probably damaging Het
Pdzk1 A T 3: 96,761,922 (GRCm39) D178V probably damaging Het
Phldb1 G T 9: 44,622,546 (GRCm39) L36M possibly damaging Het
Pip5k1c A G 10: 81,141,645 (GRCm39) E111G probably damaging Het
Plcb4 G A 2: 135,752,045 (GRCm39) E84K possibly damaging Het
Prpf39 T A 12: 65,108,034 (GRCm39) Y646N probably benign Het
Psmc6 T C 14: 45,568,483 (GRCm39) F69L probably benign Het
Ptk2 T A 15: 73,215,041 (GRCm39) S46C possibly damaging Het
Ptpn6 G A 6: 124,709,771 (GRCm39) R23W probably damaging Het
Ptprb T A 10: 116,149,819 (GRCm39) Y143* probably null Het
Qrich2 T C 11: 116,338,091 (GRCm39) E141G probably benign Het
Rsf1 G GCCGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Scn5a A G 9: 119,381,127 (GRCm39) L136P probably damaging Het
Slc12a6 T C 2: 112,179,704 (GRCm39) F676S probably damaging Het
Spata31f1a A T 4: 42,850,250 (GRCm39) Y635* probably null Het
Spata31f1e T C 4: 42,793,440 (GRCm39) R231G probably benign Het
Spata32 C T 11: 103,099,648 (GRCm39) G286R probably damaging Het
Tbx19 T C 1: 164,981,090 (GRCm39) K135E probably damaging Het
Tdrd6 T C 17: 43,936,567 (GRCm39) T1494A probably benign Het
Tmem62 A C 2: 120,808,211 (GRCm39) D71A probably damaging Het
Tnfsf15 A T 4: 63,663,305 (GRCm39) V6D possibly damaging Het
Tulp4 T C 17: 6,248,948 (GRCm39) V182A possibly damaging Het
Vmn2r73 A T 7: 85,522,027 (GRCm39) V104D probably benign Het
Zdhhc8 C A 16: 18,039,558 (GRCm39) G159C Het
Zfy2 A G Y: 2,109,904 (GRCm39) W338R probably damaging Het
Zscan26 A G 13: 21,632,431 (GRCm39) V100A probably benign 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
R0127:Znfx1 UTSW 2 166,886,130 (GRCm39) missense possibly damaging 0.84
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
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'- ATTGTGCCCATCAGTCTGG -3'
(R):5'- CTCTTGAGATTTACCCTCAGGAAAG -3'

Sequencing Primer
(F):5'- CATCAGTCTGGGCCTTGCTG -3'
(R):5'- ATCTCATAGATGGTTGTGAGCCACC -3'
Posted On 2022-06-15