Incidental Mutation 'IGL02348:Nfya'
ID 289364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfya
Ensembl Gene ENSMUSG00000023994
Gene Name nuclear transcription factor-Y alpha
Synonyms Sez10, Cbf-b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02348
Quality Score
Status
Chromosome 17
Chromosomal Location 48693917-48716782 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 48700304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 122 (Q122*)
Ref Sequence ENSEMBL: ENSMUSP00000123785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046719] [ENSMUST00000078800] [ENSMUST00000159063] [ENSMUST00000159535] [ENSMUST00000160319] [ENSMUST00000162460] [ENSMUST00000161117] [ENSMUST00000161256]
AlphaFold P23708
Predicted Effect probably null
Transcript: ENSMUST00000046719
AA Change: Q151*
SMART Domains Protein: ENSMUSP00000043909
Gene: ENSMUSG00000023994
AA Change: Q151*

DomainStartEndE-ValueType
low complexity region 14 37 N/A INTRINSIC
low complexity region 39 58 N/A INTRINSIC
low complexity region 99 167 N/A INTRINSIC
low complexity region 205 223 N/A INTRINSIC
low complexity region 226 240 N/A INTRINSIC
CBF 260 321 3.92e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000078800
AA Change: Q150*
SMART Domains Protein: ENSMUSP00000077853
Gene: ENSMUSG00000023994
AA Change: Q150*

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
low complexity region 38 57 N/A INTRINSIC
low complexity region 98 166 N/A INTRINSIC
low complexity region 204 222 N/A INTRINSIC
low complexity region 225 239 N/A INTRINSIC
CBF 259 320 3.92e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000159063
AA Change: Q122*
SMART Domains Protein: ENSMUSP00000124404
Gene: ENSMUSG00000023994
AA Change: Q122*

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
low complexity region 70 138 N/A INTRINSIC
low complexity region 170 188 N/A INTRINSIC
low complexity region 191 205 N/A INTRINSIC
CBF 225 286 3.92e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159237
SMART Domains Protein: ENSMUSP00000124115
Gene: ENSMUSG00000023994

DomainStartEndE-ValueType
low complexity region 66 84 N/A INTRINSIC
low complexity region 87 101 N/A INTRINSIC
CBF 121 182 3.92e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000159535
AA Change: Q149*
SMART Domains Protein: ENSMUSP00000124501
Gene: ENSMUSG00000023994
AA Change: Q149*

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
low complexity region 38 56 N/A INTRINSIC
internal_repeat_1 57 82 3.82e-6 PROSPERO
internal_repeat_1 74 95 3.82e-6 PROSPERO
low complexity region 97 165 N/A INTRINSIC
low complexity region 197 215 N/A INTRINSIC
low complexity region 218 232 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000160319
AA Change: Q151*
SMART Domains Protein: ENSMUSP00000124245
Gene: ENSMUSG00000023994
AA Change: Q151*

DomainStartEndE-ValueType
low complexity region 14 37 N/A INTRINSIC
low complexity region 39 58 N/A INTRINSIC
low complexity region 99 167 N/A INTRINSIC
low complexity region 199 217 N/A INTRINSIC
low complexity region 220 234 N/A INTRINSIC
CBF 254 315 3.92e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000162460
AA Change: Q122*
SMART Domains Protein: ENSMUSP00000123785
Gene: ENSMUSG00000023994
AA Change: Q122*

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
low complexity region 70 138 N/A INTRINSIC
low complexity region 176 194 N/A INTRINSIC
low complexity region 197 211 N/A INTRINSIC
CBF 231 292 3.92e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161117
AA Change: Q116*
SMART Domains Protein: ENSMUSP00000124965
Gene: ENSMUSG00000023994
AA Change: Q116*

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
internal_repeat_1 24 49 2.33e-5 PROSPERO
internal_repeat_1 41 62 2.33e-5 PROSPERO
low complexity region 64 132 N/A INTRINSIC
low complexity region 170 188 N/A INTRINSIC
low complexity region 191 205 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161256
AA Change: Q17*
SMART Domains Protein: ENSMUSP00000125034
Gene: ENSMUSG00000023994
AA Change: Q17*

DomainStartEndE-ValueType
low complexity region 1 33 N/A INTRINSIC
low complexity region 69 87 N/A INTRINSIC
low complexity region 90 104 N/A INTRINSIC
CBF 124 185 9.8e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161603
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of this locus impairs development and results in embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 G A 10: 4,304,722 (GRCm39) D511N probably damaging Het
Akt3 T A 1: 176,886,952 (GRCm39) D299V probably damaging Het
Arfgef3 G A 10: 18,467,095 (GRCm39) P2035L probably benign Het
Atp13a3 C T 16: 30,170,046 (GRCm39) probably null Het
Capn9 C A 8: 125,321,416 (GRCm39) P151T probably damaging Het
Csrnp1 T A 9: 119,801,709 (GRCm39) D450V probably damaging Het
Ctrb1 C T 8: 112,413,762 (GRCm39) A201T possibly damaging Het
Erp27 T C 6: 136,888,544 (GRCm39) T145A probably damaging Het
Fads2b T C 2: 85,323,640 (GRCm39) I298V possibly damaging Het
Fanca A T 8: 124,032,002 (GRCm39) L256Q probably damaging Het
Fars2 G A 13: 36,721,354 (GRCm39) V433I probably benign Het
Fbxo9 T A 9: 78,016,289 (GRCm39) M1L probably benign Het
Fcnb C A 2: 27,974,842 (GRCm39) V10F possibly damaging Het
Gad2 C T 2: 22,519,405 (GRCm39) H175Y probably damaging Het
Get4 G A 5: 139,238,254 (GRCm39) G12D probably benign Het
Gmpr2 T A 14: 55,915,758 (GRCm39) I312N probably damaging Het
Golm1 T A 13: 59,786,191 (GRCm39) M334L probably benign Het
Itgam T A 7: 127,715,472 (GRCm39) F1054L possibly damaging Het
Kcnk7 C A 19: 5,756,501 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,813 (GRCm39) A205T probably damaging Het
Macf1 C T 4: 123,406,659 (GRCm39) V276M probably damaging Het
Mdga2 T A 12: 66,597,349 (GRCm39) N715I probably damaging Het
Mfap5 T A 6: 122,503,746 (GRCm39) S103R possibly damaging Het
Nckap1 C T 2: 80,348,326 (GRCm39) V876M probably damaging Het
Ncor1 A T 11: 62,224,485 (GRCm39) probably benign Het
Nup210l G A 3: 90,011,471 (GRCm39) probably benign Het
Or5h22 T G 16: 58,895,312 (GRCm39) I44L probably damaging Het
Pcdhb19 T A 18: 37,631,861 (GRCm39) L552Q probably damaging Het
Psmd2 T A 16: 20,473,397 (GRCm39) S153T probably benign Het
Ptpn4 T C 1: 119,610,452 (GRCm39) Y685C probably damaging Het
Rad54l2 T C 9: 106,597,575 (GRCm39) R144G probably damaging Het
S1pr4 A C 10: 81,334,855 (GRCm39) Y206* probably null Het
Slc39a14 A G 14: 70,553,885 (GRCm39) probably null Het
Stx2 G A 5: 129,065,894 (GRCm39) A254V probably damaging Het
Sumf2 G T 5: 129,888,711 (GRCm39) G216C probably damaging Het
Tbc1d32 A G 10: 56,100,715 (GRCm39) S88P probably benign Het
Trem1 T A 17: 48,539,824 (GRCm39) M1K probably null Het
Trmt1l T C 1: 151,325,757 (GRCm39) Y401H probably damaging Het
Ttc22 A T 4: 106,480,135 (GRCm39) M130L probably damaging Het
Wnk1 T C 6: 119,940,289 (GRCm39) E816G probably damaging Het
Wnt9b C T 11: 103,622,908 (GRCm39) G165D probably damaging Het
Zscan21 A G 5: 138,131,645 (GRCm39) T390A probably damaging Het
Zswim7 G T 11: 62,159,581 (GRCm39) C85* probably null Het
Other mutations in Nfya
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Nfya APN 17 48,700,283 (GRCm39) unclassified probably benign
IGL03220:Nfya APN 17 48,707,521 (GRCm39) missense possibly damaging 0.66
IGL03274:Nfya APN 17 48,698,375 (GRCm39) missense probably damaging 1.00
PIT4468001:Nfya UTSW 17 48,702,805 (GRCm39) missense unknown
R0147:Nfya UTSW 17 48,706,026 (GRCm39) missense possibly damaging 0.46
R0148:Nfya UTSW 17 48,706,026 (GRCm39) missense possibly damaging 0.46
R0904:Nfya UTSW 17 48,702,815 (GRCm39) nonsense probably null
R1484:Nfya UTSW 17 48,700,570 (GRCm39) unclassified probably benign
R4105:Nfya UTSW 17 48,699,912 (GRCm39) nonsense probably null
R4108:Nfya UTSW 17 48,699,912 (GRCm39) nonsense probably null
R4109:Nfya UTSW 17 48,699,912 (GRCm39) nonsense probably null
R4923:Nfya UTSW 17 48,707,563 (GRCm39) utr 5 prime probably benign
R5411:Nfya UTSW 17 48,699,046 (GRCm39) missense possibly damaging 0.83
R6299:Nfya UTSW 17 48,699,938 (GRCm39) intron probably benign
R6846:Nfya UTSW 17 48,702,715 (GRCm39) missense probably benign 0.04
R6967:Nfya UTSW 17 48,699,932 (GRCm39) intron probably benign
R7027:Nfya UTSW 17 48,696,340 (GRCm39) missense probably benign 0.00
R7634:Nfya UTSW 17 48,699,445 (GRCm39) missense probably damaging 0.99
R8377:Nfya UTSW 17 48,699,073 (GRCm39) missense possibly damaging 0.92
R8460:Nfya UTSW 17 48,698,974 (GRCm39) missense possibly damaging 0.70
R8501:Nfya UTSW 17 48,706,017 (GRCm39) missense unknown
R8726:Nfya UTSW 17 48,699,445 (GRCm39) missense probably damaging 0.99
R8935:Nfya UTSW 17 48,700,294 (GRCm39) unclassified probably benign
R8950:Nfya UTSW 17 48,700,489 (GRCm39) unclassified probably benign
R9252:Nfya UTSW 17 48,699,943 (GRCm39) missense
R9321:Nfya UTSW 17 48,707,494 (GRCm39) missense unknown
Z1177:Nfya UTSW 17 48,700,541 (GRCm39) missense unknown
Posted On 2015-04-16