Incidental Mutation 'IGL03172:Zkscan1'
ID411897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan1
Ensembl Gene ENSMUSG00000029729
Gene Namezinc finger with KRAB and SCAN domains 1
Synonyms9230118B16Rik, KOX18, 9130423L19Rik, 5930429A01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #IGL03172
Quality Score
Status
Chromosome5
Chromosomal Location138085084-138107822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 138094002 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 146 (Q146R)
Ref Sequence ENSEMBL: ENSMUSP00000106588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019660] [ENSMUST00000066617] [ENSMUST00000110962] [ENSMUST00000110963]
Predicted Effect probably benign
Transcript: ENSMUST00000019660
AA Change: Q146R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000019660
Gene: ENSMUSG00000029729
AA Change: Q146R

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
SCAN 52 162 1.5e-75 SMART
KRAB 225 285 5.7e-8 SMART
low complexity region 300 314 N/A INTRINSIC
low complexity region 316 337 N/A INTRINSIC
ZnF_C2H2 375 397 1.3e-5 SMART
ZnF_C2H2 403 425 7.3e-6 SMART
ZnF_C2H2 431 453 5.6e-6 SMART
ZnF_C2H2 459 481 4e-7 SMART
ZnF_C2H2 487 509 3.8e-6 SMART
ZnF_C2H2 515 537 5.7e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066617
AA Change: Q146R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000068480
Gene: ENSMUSG00000029729
AA Change: Q146R

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
SCAN 52 162 4.62e-73 SMART
low complexity region 227 241 N/A INTRINSIC
low complexity region 243 264 N/A INTRINSIC
ZnF_C2H2 302 324 2.95e-3 SMART
ZnF_C2H2 330 352 1.69e-3 SMART
ZnF_C2H2 358 380 1.28e-3 SMART
ZnF_C2H2 386 408 9.22e-5 SMART
ZnF_C2H2 414 436 9.08e-4 SMART
ZnF_C2H2 442 464 1.28e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110962
AA Change: Q146R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106587
Gene: ENSMUSG00000029729
AA Change: Q146R

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
SCAN 52 162 4.62e-73 SMART
low complexity region 227 241 N/A INTRINSIC
low complexity region 243 264 N/A INTRINSIC
ZnF_C2H2 302 324 2.95e-3 SMART
ZnF_C2H2 330 352 1.69e-3 SMART
ZnF_C2H2 358 380 1.28e-3 SMART
ZnF_C2H2 386 408 9.22e-5 SMART
ZnF_C2H2 414 436 9.08e-4 SMART
ZnF_C2H2 442 464 1.28e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110963
AA Change: Q146R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106588
Gene: ENSMUSG00000029729
AA Change: Q146R

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
SCAN 52 162 4.62e-73 SMART
low complexity region 227 241 N/A INTRINSIC
low complexity region 243 264 N/A INTRINSIC
ZnF_C2H2 302 324 2.95e-3 SMART
ZnF_C2H2 330 352 1.69e-3 SMART
ZnF_C2H2 358 380 1.28e-3 SMART
ZnF_C2H2 386 408 9.22e-5 SMART
ZnF_C2H2 414 436 9.08e-4 SMART
ZnF_C2H2 442 464 1.28e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,948,176 H528R probably damaging Het
A530053G22Rik A T 6: 60,402,062 noncoding transcript Het
Aagab A G 9: 63,635,394 probably benign Het
Aknad1 A T 3: 108,781,203 I616F possibly damaging Het
Ap2a1 A C 7: 44,904,055 D629E probably benign Het
Apc2 C A 10: 80,313,386 Q1425K probably damaging Het
Asf1b A C 8: 83,967,913 H102P probably benign Het
Celf6 C T 9: 59,582,282 A90V probably damaging Het
Chrna2 A T 14: 66,142,239 Q9L probably benign Het
Csnk1g3 A G 18: 53,953,284 I420M possibly damaging Het
Eml3 T C 19: 8,939,179 probably benign Het
Epn3 T C 11: 94,491,630 N508S possibly damaging Het
Fam120a T C 13: 48,910,336 Y608C probably damaging Het
Fbn1 A C 2: 125,320,968 C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 F128L probably damaging Het
Fn1 T C 1: 71,641,262 N428S probably damaging Het
Fxr2 T C 11: 69,649,839 probably null Het
Gabrp T C 11: 33,554,388 Y309C probably damaging Het
Golga2 A G 2: 32,292,156 I50V probably benign Het
Ifi203 C T 1: 173,936,592 G105R possibly damaging Het
Itgav A T 2: 83,765,846 Q201L possibly damaging Het
Jade2 T C 11: 51,825,371 T336A probably damaging Het
Kdm4b A G 17: 56,401,649 D996G probably damaging Het
Me2 A G 18: 73,770,726 I557T probably benign Het
Memo1 A C 17: 74,245,001 L100R probably damaging Het
Mrps2 A G 2: 28,469,806 N225S probably damaging Het
Ndufa2 A G 18: 36,744,225 probably null Het
Olfr130 G T 17: 38,067,384 C71F probably damaging Het
Olfr832 G A 9: 18,945,461 S271N probably benign Het
Pak7 G T 2: 136,098,390 Y501* probably null Het
Pot1b A T 17: 55,695,206 F123I possibly damaging Het
Rev3l T C 10: 39,824,790 V1761A probably benign Het
Samd3 T A 10: 26,230,166 V14E probably damaging Het
Slc4a8 G A 15: 100,799,717 A605T probably benign Het
Smgc A T 15: 91,860,444 D333V probably damaging Het
Spata4 A G 8: 54,602,405 I147V probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Vmn2r73 G A 7: 85,858,287 H606Y probably benign Het
Vsig8 A G 1: 172,560,349 N2S probably damaging Het
Wdr17 A C 8: 54,661,480 I667R probably damaging Het
Yif1b A G 7: 29,238,448 probably null Het
Zbtb5 A T 4: 44,994,003 H460Q possibly damaging Het
Zdhhc21 G A 4: 82,806,327 probably benign Het
Zfp944 A T 17: 22,340,037 H76Q probably damaging Het
Other mutations in Zkscan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0078:Zkscan1 UTSW 5 138093101 missense probably damaging 1.00
R0206:Zkscan1 UTSW 5 138101186 missense probably damaging 1.00
R0206:Zkscan1 UTSW 5 138101186 missense probably damaging 1.00
R0324:Zkscan1 UTSW 5 138097523 missense probably damaging 1.00
R0503:Zkscan1 UTSW 5 138093326 missense probably damaging 0.99
R0940:Zkscan1 UTSW 5 138093170 missense probably damaging 1.00
R1879:Zkscan1 UTSW 5 138097148 missense probably damaging 1.00
R1926:Zkscan1 UTSW 5 138101363 missense probably benign 0.33
R3749:Zkscan1 UTSW 5 138101441 missense probably damaging 0.99
R5045:Zkscan1 UTSW 5 138100920 missense probably damaging 1.00
R5391:Zkscan1 UTSW 5 138097101 missense probably benign
R6339:Zkscan1 UTSW 5 138093305 missense probably damaging 1.00
R6936:Zkscan1 UTSW 5 138093305 missense probably damaging 1.00
R7178:Zkscan1 UTSW 5 138100930 missense probably damaging 0.99
Z1177:Zkscan1 UTSW 5 138100907 nonsense probably null
Posted On2016-08-02