Incidental Mutation 'R1127:Zc3h7a'
ID 96349
Institutional Source Beutler Lab
Gene Symbol Zc3h7a
Ensembl Gene ENSMUSG00000037965
Gene Name zinc finger CCCH type containing 7 A
Synonyms A430104C18Rik, Zc3h7
MMRRC Submission 039200-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R1127 (G1)
Quality Score 137
Status Not validated
Chromosome 16
Chromosomal Location 10954458-10994257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 10956939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 890 (D890A)
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 damaging
Transcript: ENSMUST00000037633
AA Change: D890A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: D890A

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: ENSMUST00000140898
SMART Domains Protein: ENSMUSP00000118771
Gene: ENSMUSG00000037965

DomainStartEndE-ValueType
Blast:ZnF_C3H1 45 71 3e-10 BLAST
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
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,403 (GRCm39) D179G probably benign Het
Aadacl2fm2 G A 3: 59,659,314 (GRCm39) E256K probably benign Het
Adh7 C T 3: 137,927,490 (GRCm39) A12V probably benign Het
Ankhd1 T A 18: 36,767,399 (GRCm39) N1179K probably damaging Het
Ankrd50 T C 3: 38,511,336 (GRCm39) T344A probably benign Het
Aplf T C 6: 87,623,273 (GRCm39) T269A probably benign Het
Cavin4 T C 4: 48,663,637 (GRCm39) S6P probably damaging Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cyp2c66 A T 19: 39,151,812 (GRCm39) N176Y probably damaging Het
Dnah3 T A 7: 119,522,253 (GRCm39) D3980V probably damaging Het
Drc7 G T 8: 95,799,416 (GRCm39) E530D probably damaging Het
Dst A G 1: 34,314,358 (GRCm39) T6434A probably damaging Het
Dtx3l A G 16: 35,759,127 (GRCm39) S41P possibly damaging Het
Eef1b2 G A 1: 63,218,616 (GRCm39) probably null Het
Eml3 C T 19: 8,913,672 (GRCm39) T43I probably damaging Het
Fam110b T A 4: 5,799,434 (GRCm39) L284Q probably damaging Het
Gpr33 A C 12: 52,070,252 (GRCm39) H262Q probably damaging Het
Igfals T G 17: 25,099,455 (GRCm39) L182R probably damaging Het
Lamc1 A G 1: 153,126,205 (GRCm39) F496L possibly damaging Het
Muc4 T A 16: 32,569,343 (GRCm39) H134Q possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nxn A T 11: 76,164,895 (GRCm39) C205* probably null Het
Oga G A 19: 45,740,594 (GRCm39) R914* probably null Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or52h9 C A 7: 104,202,293 (GRCm39) H56N possibly damaging Het
Pamr1 A T 2: 102,469,698 (GRCm39) I415F possibly damaging Het
Ppp4r4 G A 12: 103,545,327 (GRCm39) G200E probably damaging Het
Pramel29 G A 4: 143,933,694 (GRCm39) T471I probably damaging Het
Prdm16 C A 4: 154,613,256 (GRCm39) S57I probably damaging Het
Psmd11 A G 11: 80,362,410 (GRCm39) K157R possibly damaging Het
Ptprn2 G A 12: 117,175,628 (GRCm39) probably null Het
Pus7 G A 5: 23,973,793 (GRCm39) H234Y probably benign Het
Rd3l A G 12: 111,946,717 (GRCm39) Y20H probably benign Het
Stk31 A G 6: 49,386,141 (GRCm39) D160G probably damaging Het
Sycp2 C T 2: 178,016,159 (GRCm39) E768K possibly damaging Het
Tango6 T C 8: 107,415,527 (GRCm39) V116A probably benign Het
Ttn C T 2: 76,697,574 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Xylb T C 9: 119,212,443 (GRCm39) I427T 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
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
R2055:Zc3h7a UTSW 16 10,955,340 (GRCm39) missense probably benign 0.00
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'- AGCTCTGAAACTCCAAAGGTGGTG -3'
(R):5'- CTGGACTAATCTCAGGCAGCAGTG -3'

Sequencing Primer
(F):5'- ACCTGGATACCCTTCCTGG -3'
(R):5'- AGTGAGAGGTCCAGGCTC -3'
Posted On 2014-01-05