Incidental Mutation 'R2100:Zfp322a'
ID 230454
Institutional Source Beutler Lab
Gene Symbol Zfp322a
Ensembl Gene ENSMUSG00000046351
Gene Name zinc finger protein 322A
Synonyms 9630054P07Rik
MMRRC Submission 040104-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R2100 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 23537273-23553378 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23541460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 94 (S94L)
Ref Sequence ENSEMBL: ENSMUSP00000118754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050101] [ENSMUST00000125328] [ENSMUST00000145451] [ENSMUST00000152557]
AlphaFold Q8BZ89
Predicted Effect probably benign
Transcript: ENSMUST00000050101
AA Change: S94L

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000061524
Gene: ENSMUSG00000046351
AA Change: S94L

DomainStartEndE-ValueType
ZnF_C2H2 81 103 6.42e-4 SMART
ZnF_C2H2 109 131 3.34e-2 SMART
ZnF_C2H2 137 159 1.28e-3 SMART
ZnF_C2H2 165 187 2.95e-3 SMART
ZnF_C2H2 193 215 1.95e-3 SMART
ZnF_C2H2 221 243 4.79e-3 SMART
ZnF_C2H2 249 271 5.14e-3 SMART
ZnF_C2H2 277 299 8.94e-3 SMART
ZnF_C2H2 303 325 5.68e1 SMART
ZnF_C2H2 361 383 1.89e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122940
Predicted Effect possibly damaging
Transcript: ENSMUST00000125328
AA Change: S94L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120804
Gene: ENSMUSG00000046351
AA Change: S94L

DomainStartEndE-ValueType
ZnF_C2H2 81 103 6.42e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000145451
AA Change: S94L

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119883
Gene: ENSMUSG00000046351
AA Change: S94L

DomainStartEndE-ValueType
ZnF_C2H2 81 103 6.42e-4 SMART
ZnF_C2H2 109 131 3.34e-2 SMART
ZnF_C2H2 137 159 1.28e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000152557
AA Change: S94L

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118754
Gene: ENSMUSG00000046351
AA Change: S94L

DomainStartEndE-ValueType
ZnF_C2H2 81 103 6.42e-4 SMART
ZnF_C2H2 109 131 3.34e-2 SMART
ZnF_C2H2 137 159 1.28e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224779
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,183 (GRCm39) R1295W probably damaging Het
Abca8b A T 11: 109,828,608 (GRCm39) I1430N probably damaging Het
Abcb1a A G 5: 8,763,202 (GRCm39) T577A probably damaging Het
Arl5b G A 2: 15,078,006 (GRCm39) M101I probably benign Het
C1qbp T A 11: 70,868,928 (GRCm39) N278I probably benign Het
Cdh1 A T 8: 107,386,300 (GRCm39) T408S possibly damaging Het
Cfap54 T A 10: 92,837,799 (GRCm39) I1034F possibly damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Chil4 T C 3: 106,121,663 (GRCm39) K62R probably benign Het
Crebl2 A G 6: 134,828,166 (GRCm39) T113A probably benign Het
Cyp2c69 C A 19: 39,875,130 (GRCm39) V8L probably benign Het
Dpp6 A G 5: 27,869,742 (GRCm39) R447G probably damaging Het
Efcab6 A T 15: 83,777,168 (GRCm39) probably null Het
Emilin1 T G 5: 31,075,241 (GRCm39) V494G probably benign Het
Enoph1 A G 5: 100,211,645 (GRCm39) I181V probably null Het
F3 T C 3: 121,526,082 (GRCm39) V215A possibly damaging Het
Fads2b T C 2: 85,330,593 (GRCm39) N238S probably damaging Het
Fat3 G T 9: 16,288,726 (GRCm39) H266N possibly damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Garnl3 T C 2: 32,936,657 (GRCm39) T171A probably benign Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Impg2 A G 16: 56,051,748 (GRCm39) probably null Het
Kctd6 T C 14: 8,222,239 (GRCm38) L27P possibly damaging Het
Kmt2d G T 15: 98,744,361 (GRCm39) probably benign Het
Kremen1 AGGCGG AGGCGGCGG 11: 5,151,788 (GRCm39) probably benign Het
Lrig2 A G 3: 104,418,946 (GRCm39) L21P possibly damaging Het
Macf1 G A 4: 123,291,699 (GRCm39) Q3284* probably null Het
Mnt A G 11: 74,722,177 (GRCm39) E8G probably damaging Het
Nbeal1 A G 1: 60,344,430 (GRCm39) probably null Het
Nid2 C T 14: 19,828,946 (GRCm39) Q331* probably null Het
Nlrx1 A G 9: 44,173,905 (GRCm39) L432P probably damaging Het
Nop2 T A 6: 125,117,785 (GRCm39) D445E probably damaging Het
Nup62 T C 7: 44,478,921 (GRCm39) probably benign Het
Oas2 A G 5: 120,883,740 (GRCm39) probably null Het
Or5b121 A G 19: 13,507,798 (GRCm39) I298V probably benign Het
Or5p1 A T 7: 107,916,761 (GRCm39) Y220F probably benign Het
Or5w10 T A 2: 87,375,169 (GRCm39) T240S probably damaging Het
Or8k40 A T 2: 86,584,905 (GRCm39) M59K possibly damaging Het
Or9i14 A G 19: 13,792,600 (GRCm39) M118T possibly damaging Het
P3h3 T A 6: 124,822,005 (GRCm39) T623S probably damaging Het
Pkp3 T C 7: 140,663,205 (GRCm39) V350A probably damaging Het
Plekha3 T A 2: 76,523,007 (GRCm39) I225N probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf213 A T 11: 119,358,128 (GRCm39) K4292* probably null Het
Rtkn T C 6: 83,126,541 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Snx10 T C 6: 51,565,395 (GRCm39) Y171H probably damaging Het
Stx12 A T 4: 132,587,913 (GRCm39) I173N possibly damaging Het
Thrb T A 14: 18,030,393 (GRCm38) M379K possibly damaging Het
Tmem132e T A 11: 82,335,357 (GRCm39) V813E probably damaging Het
Tnfsf12 T C 11: 69,578,175 (GRCm39) E134G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpbgl T A 7: 99,275,651 (GRCm39) I69F possibly damaging Het
Ythdc1 T A 5: 86,964,544 (GRCm39) S130T possibly damaging Het
Zbp1 A G 2: 173,051,037 (GRCm39) S278P probably damaging Het
Zfp30 A G 7: 29,492,951 (GRCm39) T483A probably benign Het
Zfp646 T G 7: 127,481,359 (GRCm39) Y1179D probably damaging Het
Other mutations in Zfp322a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02579:Zfp322a APN 13 23,541,613 (GRCm39) missense probably damaging 0.97
R1395:Zfp322a UTSW 13 23,540,945 (GRCm39) missense probably benign 0.01
R1975:Zfp322a UTSW 13 23,541,074 (GRCm39) missense probably damaging 1.00
R2332:Zfp322a UTSW 13 23,541,494 (GRCm39) missense probably damaging 1.00
R2571:Zfp322a UTSW 13 23,540,614 (GRCm39) missense probably damaging 1.00
R4959:Zfp322a UTSW 13 23,541,052 (GRCm39) missense probably damaging 1.00
R5245:Zfp322a UTSW 13 23,541,156 (GRCm39) nonsense probably null
R5310:Zfp322a UTSW 13 23,541,532 (GRCm39) missense possibly damaging 0.90
R5389:Zfp322a UTSW 13 23,541,149 (GRCm39) missense probably damaging 1.00
R5525:Zfp322a UTSW 13 23,541,685 (GRCm39) missense probably benign
R5810:Zfp322a UTSW 13 23,541,579 (GRCm39) nonsense probably null
R7299:Zfp322a UTSW 13 23,541,314 (GRCm39) missense probably benign 0.22
R7299:Zfp322a UTSW 13 23,541,313 (GRCm39) missense probably damaging 0.97
R7301:Zfp322a UTSW 13 23,541,314 (GRCm39) missense probably benign 0.22
R7301:Zfp322a UTSW 13 23,541,313 (GRCm39) missense probably damaging 0.97
R8670:Zfp322a UTSW 13 23,541,274 (GRCm39) missense possibly damaging 0.83
R9108:Zfp322a UTSW 13 23,541,437 (GRCm39) missense probably benign 0.01
R9789:Zfp322a UTSW 13 23,540,558 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- GGAGGAAGTCACTCTCACACAT -3'
(R):5'- ATACCATGTATGCCCTCAAAAGG -3'

Sequencing Primer
(F):5'- GGTGGCTAATAAGATCTGATTTCCC -3'
(R):5'- TCAGTGCCTTGAACGTGA -3'
Posted On 2014-09-18