Incidental Mutation 'R2055:Zc3h7a'
ID 226627
Institutional Source Beutler Lab
Gene Symbol Zc3h7a
Ensembl Gene ENSMUSG00000037965
Gene Name zinc finger CCCH type containing 7 A
Synonyms A430104C18Rik, Zc3h7
MMRRC Submission 040060-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R2055 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 10954458-10994257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10955340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 911 (N911K)
Ref Sequence ENSEMBL: ENSMUSP00000041308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037633] [ENSMUST00000038424] [ENSMUST00000118362] [ENSMUST00000118679] [ENSMUST00000140755] [ENSMUST00000155221] [ENSMUST00000145225] [ENSMUST00000147884]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037633
AA Change: N911K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: N911K

DomainStartEndE-ValueType
PDB:2DBA|A 26 157 9e-7 PDB
Blast:TPR 43 76 1e-7 BLAST
SCOP:d1ihga1 46 169 1e-11 SMART
Blast:TPR 124 156 9e-9 BLAST
low complexity region 308 319 N/A INTRINSIC
low complexity region 380 398 N/A INTRINSIC
ZnF_C2H2 443 467 1.83e2 SMART
ZnF_C3H1 630 654 1.57e1 SMART
ZnF_C3H1 770 795 8.81e0 SMART
ZnF_C2H2 856 880 1.62e0 SMART
ZnF_C3H1 902 926 1.76e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038424
SMART Domains Protein: ENSMUSP00000041113
Gene: ENSMUSG00000022498

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 61 76 N/A INTRINSIC
low complexity region 92 103 N/A INTRINSIC
Pfam:Thioredoxin 107 208 5.8e-11 PFAM
Pfam:Thioredoxin 660 756 1e-11 PFAM
coiled coil region 793 830 N/A INTRINSIC
low complexity region 927 936 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118362
SMART Domains Protein: ENSMUSP00000113432
Gene: ENSMUSG00000022498

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 61 76 N/A INTRINSIC
low complexity region 92 103 N/A INTRINSIC
Pfam:Thioredoxin 107 208 2.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118679
SMART Domains Protein: ENSMUSP00000112601
Gene: ENSMUSG00000022498

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 61 76 N/A INTRINSIC
low complexity region 92 103 N/A INTRINSIC
Pfam:Thioredoxin 107 208 4.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138282
Predicted Effect probably benign
Transcript: ENSMUST00000140755
SMART Domains Protein: ENSMUSP00000120720
Gene: ENSMUSG00000037965

DomainStartEndE-ValueType
Pfam:TPR_11 41 120 1e-7 PFAM
Blast:TPR 124 156 5e-9 BLAST
low complexity region 308 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143121
Predicted Effect probably benign
Transcript: ENSMUST00000155221
SMART Domains Protein: ENSMUSP00000114777
Gene: ENSMUSG00000022498

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 61 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145225
SMART Domains Protein: ENSMUSP00000116563
Gene: ENSMUSG00000022498

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 61 76 N/A INTRINSIC
low complexity region 92 103 N/A INTRINSIC
Pfam:Thioredoxin 107 208 5.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147884
SMART Domains Protein: ENSMUSP00000117426
Gene: ENSMUSG00000022498

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 61 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140898
SMART Domains Protein: ENSMUSP00000118771
Gene: ENSMUSG00000037965

DomainStartEndE-ValueType
Blast:ZnF_C3H1 45 71 3e-10 BLAST
Meta Mutation Damage Score 0.0875 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,107 (GRCm39) E185G probably damaging Het
3425401B19Rik A G 14: 32,384,508 (GRCm39) S486P probably benign Het
A630023A22Rik T C 14: 33,774,707 (GRCm39) probably benign Het
Abca1 T C 4: 53,069,881 (GRCm39) N1271S probably benign Het
AI597479 C T 1: 43,150,280 (GRCm39) A130V probably benign Het
Angptl4 A G 17: 33,999,498 (GRCm39) probably null Het
Arhgef25 T A 10: 127,021,004 (GRCm39) N294I probably damaging Het
Atp2b1 T C 10: 98,850,421 (GRCm39) V848A probably damaging Het
Bard1 T C 1: 71,114,031 (GRCm39) T317A probably benign Het
C1rl T C 6: 124,470,781 (GRCm39) W30R probably benign Het
Cchcr1 A G 17: 35,837,317 (GRCm39) E379G probably damaging Het
Cfap36 G T 11: 29,197,122 (GRCm39) A3E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca4a A G 3: 144,676,489 (GRCm39) Y64H probably damaging Het
Cops5 A G 1: 10,102,562 (GRCm39) probably null Het
Cracr2a G T 6: 127,585,564 (GRCm39) E121* probably null Het
Cstf1 A G 2: 172,222,403 (GRCm39) E387G probably benign Het
D630044L22Rik A C 17: 26,180,951 (GRCm39) D733E probably damaging Het
Dlc1 A T 8: 37,060,535 (GRCm39) C514S probably damaging Het
Dmwd G T 7: 18,810,610 (GRCm39) R139L probably benign Het
Dnah17 A T 11: 117,958,357 (GRCm39) S2709T probably benign Het
Dnmt3a T C 12: 3,922,859 (GRCm39) I154T probably benign Het
Dpp7 T C 2: 25,244,490 (GRCm39) N297S possibly damaging Het
Ern2 A T 7: 121,783,168 (GRCm39) V34D possibly damaging Het
Erp27 A G 6: 136,885,227 (GRCm39) probably benign Het
F2 T C 2: 91,458,787 (GRCm39) T508A probably benign Het
Fam181b A G 7: 92,729,634 (GRCm39) T136A probably benign Het
Fam227b C A 2: 125,942,874 (GRCm39) V308L probably benign Het
Fbxw20 A T 9: 109,050,442 (GRCm39) H394Q probably damaging Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Glt8d1 T G 14: 30,731,693 (GRCm39) S111A probably benign Het
Gm11146 A T 16: 77,391,969 (GRCm39) probably benign Het
Grip1 C T 10: 119,885,416 (GRCm39) probably benign Het
H2-Q2 A T 17: 35,564,247 (GRCm39) T334S probably benign Het
Hcrtr1 A G 4: 130,024,680 (GRCm39) V402A probably benign Het
Hmcn2 C A 2: 31,268,294 (GRCm39) A1130D probably benign Het
Hsd17b2 T C 8: 118,428,913 (GRCm39) L60P possibly damaging Het
Htr1f A T 16: 64,746,398 (GRCm39) I298N probably damaging Het
Ighmbp2 G T 19: 3,315,095 (GRCm39) A775D probably benign Het
Kcnn3 A G 3: 89,428,682 (GRCm39) T303A probably damaging Het
Kiz C A 2: 146,733,203 (GRCm39) Q460K probably benign Het
Krt75 C T 15: 101,481,196 (GRCm39) V193I probably benign Het
Lsp1 G A 7: 142,043,144 (GRCm39) probably null Het
Mfsd12 A G 10: 81,196,063 (GRCm39) H146R probably damaging Het
Mmp23 T C 4: 155,736,444 (GRCm39) K199R possibly damaging Het
Naip2 A G 13: 100,315,880 (GRCm39) V300A probably benign Het
Nbeal1 C T 1: 60,350,216 (GRCm39) L2422F probably damaging Het
Nbeal2 G T 9: 110,464,375 (GRCm39) D1094E possibly damaging Het
Nckap5 T C 1: 125,954,635 (GRCm39) E639G probably damaging Het
Nr4a3 A G 4: 48,067,771 (GRCm39) I456V possibly damaging Het
Or2t43 A G 11: 58,457,673 (GRCm39) F166S probably damaging Het
Parp9 G T 16: 35,773,984 (GRCm39) V86L probably damaging Het
Phactr1 A G 13: 43,231,416 (GRCm39) N386S probably damaging Het
Pold2 A T 11: 5,823,516 (GRCm39) Y304* probably null Het
Pou5f2 A G 13: 78,173,940 (GRCm39) Y294C probably benign Het
Rars1 A G 11: 35,717,410 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,606 (GRCm39) E526G probably benign Het
Sacs T C 14: 61,451,498 (GRCm39) Y4515H probably damaging Het
Sdk2 C A 11: 113,741,780 (GRCm39) R813L probably damaging Het
Six5 T C 7: 18,829,154 (GRCm39) V198A possibly damaging Het
Slco1a7 A T 6: 141,671,181 (GRCm39) H430Q probably benign Het
Spata31e2 A T 1: 26,724,813 (GRCm39) N122K possibly damaging Het
Spn A G 7: 126,736,388 (GRCm39) S40P probably damaging Het
Ssr1 A G 13: 38,171,761 (GRCm39) probably benign Het
Tlr6 C A 5: 65,111,269 (GRCm39) C546F probably damaging Het
Top1 T A 2: 160,544,748 (GRCm39) probably benign Het
Trhr2 A G 8: 123,085,532 (GRCm39) S151P probably damaging Het
Tubb2b T G 13: 34,311,708 (GRCm39) K362Q probably benign Het
Unc13c T C 9: 73,643,832 (GRCm39) T1211A probably damaging Het
Vmn1r15 T C 6: 57,235,729 (GRCm39) V199A possibly damaging Het
Vnn1 A G 10: 23,776,475 (GRCm39) probably benign Het
Vps41 T A 13: 19,038,786 (GRCm39) N737K possibly damaging Het
Vps50 T A 6: 3,522,265 (GRCm39) N144K probably benign Het
Zkscan7 T A 9: 122,718,002 (GRCm39) S132R probably damaging Het
Other mutations in Zc3h7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Zc3h7a APN 16 10,955,202 (GRCm39) missense probably damaging 0.98
IGL00908:Zc3h7a APN 16 10,963,106 (GRCm39) missense probably damaging 0.99
IGL01087:Zc3h7a APN 16 10,971,046 (GRCm39) missense probably benign 0.28
IGL01285:Zc3h7a APN 16 10,956,979 (GRCm39) missense probably damaging 1.00
IGL01453:Zc3h7a APN 16 10,967,242 (GRCm39) missense probably benign 0.00
IGL01639:Zc3h7a APN 16 10,959,572 (GRCm39) missense possibly damaging 0.75
IGL01716:Zc3h7a APN 16 10,963,580 (GRCm39) missense probably damaging 1.00
IGL02059:Zc3h7a APN 16 10,978,862 (GRCm39) unclassified probably benign
IGL02170:Zc3h7a APN 16 10,964,259 (GRCm39) missense probably benign
IGL02256:Zc3h7a APN 16 10,965,140 (GRCm39) missense probably benign 0.04
IGL02904:Zc3h7a APN 16 10,968,530 (GRCm39) missense probably damaging 1.00
IGL02941:Zc3h7a APN 16 10,976,458 (GRCm39) critical splice acceptor site probably null
IGL03198:Zc3h7a APN 16 10,980,528 (GRCm39) nonsense probably null
IGL03201:Zc3h7a APN 16 10,974,166 (GRCm39) critical splice acceptor site probably null
IGL03302:Zc3h7a APN 16 10,959,574 (GRCm39) missense probably damaging 1.00
agreement UTSW 16 10,971,025 (GRCm39) missense probably benign 0.02
Clement UTSW 16 10,982,466 (GRCm39) nonsense probably null
consensus UTSW 16 10,978,890 (GRCm39) missense probably damaging 1.00
R0062:Zc3h7a UTSW 16 10,957,011 (GRCm39) missense probably damaging 1.00
R0255:Zc3h7a UTSW 16 10,958,601 (GRCm39) missense probably damaging 1.00
R0376:Zc3h7a UTSW 16 10,974,066 (GRCm39) missense probably benign 0.00
R0545:Zc3h7a UTSW 16 10,970,197 (GRCm39) unclassified probably benign
R0666:Zc3h7a UTSW 16 10,974,167 (GRCm39) unclassified probably benign
R0831:Zc3h7a UTSW 16 10,969,744 (GRCm39) missense probably damaging 0.99
R1127:Zc3h7a UTSW 16 10,956,939 (GRCm39) missense probably damaging 1.00
R1296:Zc3h7a UTSW 16 10,978,890 (GRCm39) missense probably damaging 1.00
R1472:Zc3h7a UTSW 16 10,978,890 (GRCm39) missense probably damaging 1.00
R1499:Zc3h7a UTSW 16 10,980,520 (GRCm39) missense probably damaging 1.00
R1747:Zc3h7a UTSW 16 10,963,117 (GRCm39) missense possibly damaging 0.67
R1786:Zc3h7a UTSW 16 10,968,469 (GRCm39) nonsense probably null
R1840:Zc3h7a UTSW 16 10,978,890 (GRCm39) missense probably damaging 1.00
R1866:Zc3h7a UTSW 16 10,965,168 (GRCm39) missense possibly damaging 0.81
R2131:Zc3h7a UTSW 16 10,968,469 (GRCm39) nonsense probably null
R2281:Zc3h7a UTSW 16 10,976,458 (GRCm39) unclassified probably benign
R2399:Zc3h7a UTSW 16 10,965,265 (GRCm39) missense probably damaging 1.00
R2979:Zc3h7a UTSW 16 10,976,837 (GRCm39) missense probably damaging 1.00
R3915:Zc3h7a UTSW 16 10,974,074 (GRCm39) missense possibly damaging 0.92
R4078:Zc3h7a UTSW 16 10,969,011 (GRCm39) missense probably benign 0.05
R4095:Zc3h7a UTSW 16 10,963,099 (GRCm39) missense probably damaging 1.00
R4208:Zc3h7a UTSW 16 10,982,508 (GRCm39) missense possibly damaging 0.60
R4444:Zc3h7a UTSW 16 10,968,457 (GRCm39) critical splice donor site probably null
R4739:Zc3h7a UTSW 16 10,959,573 (GRCm39) missense probably damaging 1.00
R5059:Zc3h7a UTSW 16 10,978,985 (GRCm39) frame shift probably null
R5545:Zc3h7a UTSW 16 10,966,315 (GRCm39) missense possibly damaging 0.89
R5815:Zc3h7a UTSW 16 10,974,050 (GRCm39) missense probably damaging 0.98
R5915:Zc3h7a UTSW 16 10,982,466 (GRCm39) nonsense probably null
R5993:Zc3h7a UTSW 16 10,968,526 (GRCm39) missense probably damaging 1.00
R6183:Zc3h7a UTSW 16 10,965,234 (GRCm39) missense possibly damaging 0.81
R6459:Zc3h7a UTSW 16 10,971,025 (GRCm39) missense probably damaging 1.00
R6513:Zc3h7a UTSW 16 10,976,629 (GRCm39) critical splice acceptor site probably null
R6700:Zc3h7a UTSW 16 10,976,831 (GRCm39) missense possibly damaging 0.59
R6904:Zc3h7a UTSW 16 10,963,535 (GRCm39) missense probably damaging 1.00
R6964:Zc3h7a UTSW 16 10,967,088 (GRCm39) missense probably benign 0.00
R7354:Zc3h7a UTSW 16 10,966,378 (GRCm39) missense probably damaging 1.00
R7667:Zc3h7a UTSW 16 10,956,890 (GRCm39) nonsense probably null
R7742:Zc3h7a UTSW 16 10,971,025 (GRCm39) missense probably benign 0.02
R7780:Zc3h7a UTSW 16 10,967,115 (GRCm39) missense probably benign 0.26
R8228:Zc3h7a UTSW 16 10,956,954 (GRCm39) missense probably damaging 1.00
R8302:Zc3h7a UTSW 16 10,955,249 (GRCm39) missense probably damaging 1.00
R8309:Zc3h7a UTSW 16 10,964,417 (GRCm39) intron probably benign
R8795:Zc3h7a UTSW 16 10,965,147 (GRCm39) missense possibly damaging 0.65
R9060:Zc3h7a UTSW 16 10,969,047 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGCTCTGATTGGGTTACATAAAAGC -3'
(R):5'- CCGGGCTTACGTTTCCTAAG -3'

Sequencing Primer
(F):5'- GGGTTACATAAAAGCCAGCATATTAC -3'
(R):5'- CAGCTCTGTGGTTAGGAACATGTAC -3'
Posted On 2014-09-17