Incidental Mutation 'R7835:Znfx1'
ID 605902
Institutional Source Beutler Lab
Gene Symbol Znfx1
Ensembl Gene ENSMUSG00000039501
Gene Name zinc finger, NFX1-type containing 1
Synonyms
MMRRC Submission 045889-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7835 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 167035793-167063015 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 167039827 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1081 (Y1081H)
Ref Sequence ENSEMBL: ENSMUSP00000049404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000048988] [ENSMUST00000067584] [ENSMUST00000128676] [ENSMUST00000155281]
AlphaFold Q8R151
Predicted Effect probably benign
Transcript: ENSMUST00000018143
SMART Domains Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
coiled coil region 78 106 N/A INTRINSIC
low complexity region 133 148 N/A INTRINSIC
low complexity region 157 166 N/A INTRINSIC
DEXDc 203 404 2.24e-56 SMART
HELICc 443 524 1.71e-29 SMART
coiled coil region 577 613 N/A INTRINSIC
low complexity region 622 629 N/A INTRINSIC
low complexity region 644 657 N/A INTRINSIC
low complexity region 679 692 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000048988
AA Change: Y1081H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: Y1081H

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 damaging
Transcript: ENSMUST00000067584
AA Change: Y217H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501
AA Change: Y217H

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
SMART Domains Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501

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
SMART Domains Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 79,099,875 (GRCm38) S1465T probably benign Het
Accsl T A 2: 93,865,984 (GRCm38) K90* probably null Het
Adamts3 A T 5: 89,700,440 (GRCm38) D674E possibly damaging Het
Adap2 T A 11: 80,160,231 (GRCm38) V129D probably benign Het
Ank3 A G 10: 69,987,727 (GRCm38) D742G Het
C1ra G A 6: 124,517,725 (GRCm38) E316K probably benign Het
C330021F23Rik A G 8: 3,580,452 (GRCm38) probably benign Het
Cachd1 G T 4: 100,974,153 (GRCm38) probably null Het
Ccne1 G T 7: 38,102,845 (GRCm38) Q133K probably benign Het
Cers3 C T 7: 66,773,639 (GRCm38) H111Y possibly damaging Het
Chst5 A T 8: 111,890,602 (GRCm38) L129M probably damaging Het
Depdc7 A G 2: 104,728,185 (GRCm38) S164P probably benign Het
Dnah10 G A 5: 124,777,234 (GRCm38) A1966T probably damaging Het
Fam208a G T 14: 27,476,643 (GRCm38) G1311C probably damaging Het
Fcgbp T G 7: 28,117,207 (GRCm38) S2365A possibly damaging Het
Ihh A G 1: 74,946,366 (GRCm38) V320A probably damaging Het
Kdm5d T C Y: 900,558 (GRCm38) V201A possibly damaging Het
Kif13b T A 14: 64,767,452 (GRCm38) H1117Q probably benign Het
Lcn8 C A 2: 25,655,296 (GRCm38) probably null Het
Lrp4 T C 2: 91,495,042 (GRCm38) V1404A possibly damaging Het
Lrrc61 A T 6: 48,568,572 (GRCm38) T110S probably benign Het
Mrpl19 G A 6: 81,962,126 (GRCm38) R232C probably damaging Het
Muc5ac G C 7: 141,809,303 (GRCm38) G2117A unknown Het
Mzt1 T C 14: 99,046,003 (GRCm38) T21A probably benign Het
Naip6 G T 13: 100,316,004 (GRCm38) A183E probably benign Het
Neb T C 2: 52,150,577 (GRCm38) D6624G probably benign Het
Nup85 A G 11: 115,570,071 (GRCm38) D183G probably benign Het
Olfm5 A T 7: 104,154,445 (GRCm38) Y195* probably null Het
Olfr828 T A 9: 18,815,809 (GRCm38) M162L probably benign Het
Piezo2 A T 18: 63,082,945 (GRCm38) F1216I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 109,624,195 (GRCm38) probably benign Het
Polr1a T C 6: 71,915,142 (GRCm38) V135A probably benign Het
Ppcdc A G 9: 57,420,276 (GRCm38) S83P probably benign Het
Prss21 A T 17: 23,869,451 (GRCm38) Q130L possibly damaging Het
Rdx T A 9: 52,065,788 (GRCm38) N112K probably damaging Het
Rgs22 A G 15: 36,081,911 (GRCm38) probably null Het
Rps26 C T 10: 128,626,126 (GRCm38) V40I probably benign Het
Runx2 A T 17: 44,608,236 (GRCm38) M405K probably damaging Het
Serinc2 A C 4: 130,275,487 (GRCm38) C4G unknown Het
Sh3rf2 C A 18: 42,111,170 (GRCm38) R266S probably benign Het
Slc38a10 A G 11: 120,116,996 (GRCm38) I386T possibly damaging Het
Stab2 G A 10: 86,872,619 (GRCm38) P1694L probably benign Het
Taf4 G A 2: 179,932,029 (GRCm38) T682M probably damaging Het
Tmem102 A G 11: 69,804,345 (GRCm38) V267A probably damaging Het
Trim65 A G 11: 116,130,929 (GRCm38) L26P probably damaging Het
Vmn1r160 T A 7: 22,871,954 (GRCm38) M244K possibly damaging Het
Vmn1r57 A T 7: 5,221,139 (GRCm38) H221L probably benign Het
Wdr89 C A 12: 75,632,899 (GRCm38) V194F probably damaging Het
Wee1 C A 7: 110,130,878 (GRCm38) Y396* probably null Het
Zfp451 A T 1: 33,772,979 (GRCm38) V885D probably damaging Het
Zfp981 A T 4: 146,537,876 (GRCm38) Q419H probably benign Het
Other mutations in Znfx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Znfx1 APN 2 167,036,729 (GRCm38) missense possibly damaging 0.65
IGL00492:Znfx1 APN 2 167,036,923 (GRCm38) missense probably damaging 1.00
IGL01285:Znfx1 APN 2 167,038,695 (GRCm38) missense possibly damaging 0.76
IGL01343:Znfx1 APN 2 167,037,363 (GRCm38) missense probably benign 0.16
IGL01767:Znfx1 APN 2 167,055,723 (GRCm38) missense probably damaging 1.00
IGL01983:Znfx1 APN 2 167,056,350 (GRCm38) missense probably damaging 1.00
IGL02006:Znfx1 APN 2 167,055,763 (GRCm38) missense probably damaging 1.00
IGL02254:Znfx1 APN 2 167,055,723 (GRCm38) missense probably damaging 1.00
IGL02421:Znfx1 APN 2 167,060,080 (GRCm38) missense probably damaging 0.97
IGL02496:Znfx1 APN 2 167,047,630 (GRCm38) missense possibly damaging 0.83
IGL02525:Znfx1 APN 2 167,037,537 (GRCm38) missense probably benign 0.00
IGL02528:Znfx1 APN 2 167,050,404 (GRCm38) missense probably benign 0.11
IGL02537:Znfx1 APN 2 167,056,167 (GRCm38) missense probably benign 0.37
IGL03065:Znfx1 APN 2 167,055,765 (GRCm38) missense probably benign 0.00
raywing UTSW 2 167,037,818 (GRCm38) missense probably damaging 1.00
sharkfin UTSW 2 167,056,317 (GRCm38) missense probably benign 0.03
skate UTSW 2 167,038,217 (GRCm38) missense probably benign 0.06
R0127:Znfx1 UTSW 2 167,044,210 (GRCm38) missense possibly damaging 0.84
R0331:Znfx1 UTSW 2 167,046,978 (GRCm38) missense probably benign 0.11
R0488:Znfx1 UTSW 2 167,042,563 (GRCm38) missense possibly damaging 0.52
R0497:Znfx1 UTSW 2 167,055,411 (GRCm38) missense probably benign 0.03
R0537:Znfx1 UTSW 2 167,041,701 (GRCm38) missense probably damaging 1.00
R0542:Znfx1 UTSW 2 167,055,655 (GRCm38) missense probably damaging 1.00
R0650:Znfx1 UTSW 2 167,047,654 (GRCm38) nonsense probably null
R0655:Znfx1 UTSW 2 167,056,907 (GRCm38) missense probably damaging 1.00
R1104:Znfx1 UTSW 2 167,055,640 (GRCm38) nonsense probably null
R1470:Znfx1 UTSW 2 167,042,587 (GRCm38) missense possibly damaging 0.91
R1470:Znfx1 UTSW 2 167,042,587 (GRCm38) missense possibly damaging 0.91
R1512:Znfx1 UTSW 2 167,056,317 (GRCm38) missense probably benign 0.03
R1533:Znfx1 UTSW 2 167,056,788 (GRCm38) missense probably benign 0.10
R1541:Znfx1 UTSW 2 167,056,190 (GRCm38) missense probably damaging 0.99
R1642:Znfx1 UTSW 2 167,039,010 (GRCm38) missense possibly damaging 0.95
R1720:Znfx1 UTSW 2 167,044,066 (GRCm38) nonsense probably null
R1760:Znfx1 UTSW 2 167,039,866 (GRCm38) missense probably damaging 0.96
R1865:Znfx1 UTSW 2 167,038,809 (GRCm38) missense probably damaging 1.00
R1959:Znfx1 UTSW 2 167,050,350 (GRCm38) missense probably damaging 1.00
R2088:Znfx1 UTSW 2 167,055,810 (GRCm38) missense probably damaging 1.00
R4581:Znfx1 UTSW 2 167,050,316 (GRCm38) missense probably damaging 1.00
R4622:Znfx1 UTSW 2 167,041,753 (GRCm38) missense possibly damaging 0.91
R4649:Znfx1 UTSW 2 167,056,356 (GRCm38) missense probably benign 0.08
R4685:Znfx1 UTSW 2 167,039,030 (GRCm38) missense probably damaging 1.00
R4798:Znfx1 UTSW 2 167,038,569 (GRCm38) splice site probably null
R4827:Znfx1 UTSW 2 167,044,231 (GRCm38) missense possibly damaging 0.77
R4870:Znfx1 UTSW 2 167,055,269 (GRCm38) missense probably benign
R4910:Znfx1 UTSW 2 167,037,482 (GRCm38) missense probably benign 0.00
R4910:Znfx1 UTSW 2 167,036,804 (GRCm38) missense probably damaging 1.00
R5022:Znfx1 UTSW 2 167,039,826 (GRCm38) missense probably damaging 1.00
R5023:Znfx1 UTSW 2 167,039,826 (GRCm38) missense probably damaging 1.00
R5057:Znfx1 UTSW 2 167,039,826 (GRCm38) missense probably damaging 1.00
R5061:Znfx1 UTSW 2 167,065,398 (GRCm38) unclassified probably benign
R5119:Znfx1 UTSW 2 167,065,387 (GRCm38) unclassified probably benign
R5125:Znfx1 UTSW 2 167,046,939 (GRCm38) missense possibly damaging 0.81
R5896:Znfx1 UTSW 2 167,039,000 (GRCm38) missense probably damaging 1.00
R6107:Znfx1 UTSW 2 167,037,081 (GRCm38) missense possibly damaging 0.67
R6112:Znfx1 UTSW 2 167,038,206 (GRCm38) missense probably benign
R6158:Znfx1 UTSW 2 167,056,726 (GRCm38) missense probably benign 0.19
R6281:Znfx1 UTSW 2 167,055,885 (GRCm38) missense probably damaging 1.00
R6464:Znfx1 UTSW 2 167,046,922 (GRCm38) missense probably benign 0.34
R6749:Znfx1 UTSW 2 167,056,599 (GRCm38) missense probably benign 0.00
R6888:Znfx1 UTSW 2 167,038,940 (GRCm38) missense possibly damaging 0.91
R6973:Znfx1 UTSW 2 167,056,761 (GRCm38) missense probably benign 0.18
R7017:Znfx1 UTSW 2 167,048,534 (GRCm38) missense probably damaging 1.00
R7138:Znfx1 UTSW 2 167,056,777 (GRCm38) missense probably benign 0.03
R7192:Znfx1 UTSW 2 167,042,190 (GRCm38) missense probably benign 0.00
R7426:Znfx1 UTSW 2 167,048,555 (GRCm38) missense probably damaging 1.00
R7431:Znfx1 UTSW 2 167,055,792 (GRCm38) missense probably damaging 1.00
R7473:Znfx1 UTSW 2 167,038,824 (GRCm38) missense probably damaging 1.00
R7593:Znfx1 UTSW 2 167,056,225 (GRCm38) missense probably benign 0.28
R7732:Znfx1 UTSW 2 167,042,669 (GRCm38) missense possibly damaging 0.91
R7993:Znfx1 UTSW 2 167,055,937 (GRCm38) nonsense probably null
R8154:Znfx1 UTSW 2 167,055,237 (GRCm38) missense probably damaging 1.00
R8351:Znfx1 UTSW 2 167,055,655 (GRCm38) missense probably damaging 1.00
R8790:Znfx1 UTSW 2 167,050,580 (GRCm38) intron probably benign
R8953:Znfx1 UTSW 2 167,055,501 (GRCm38) missense probably damaging 1.00
R9005:Znfx1 UTSW 2 167,038,736 (GRCm38) missense
R9131:Znfx1 UTSW 2 167,050,378 (GRCm38) missense probably benign
R9163:Znfx1 UTSW 2 167,056,341 (GRCm38) missense probably damaging 1.00
R9169:Znfx1 UTSW 2 167,055,265 (GRCm38) missense probably benign
R9181:Znfx1 UTSW 2 167,038,217 (GRCm38) missense probably benign 0.06
R9181:Znfx1 UTSW 2 167,037,818 (GRCm38) missense probably damaging 1.00
R9300:Znfx1 UTSW 2 167,055,940 (GRCm38) missense probably damaging 1.00
R9448:Znfx1 UTSW 2 167,046,924 (GRCm38) missense probably benign 0.04
R9569:Znfx1 UTSW 2 167,055,955 (GRCm38) missense
X0064:Znfx1 UTSW 2 167,055,256 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACAGCACCAGCATCTCTTG -3'
(R):5'- AGCCTCTTGCATCATGGTTTG -3'

Sequencing Primer
(F):5'- TCATTCAGGGTCACACAGCTG -3'
(R):5'- TGCATCATGGTTTGTCCCAG -3'
Posted On 2019-12-20