Incidental Mutation 'R4078:Zc3h7a'
ID 316715
Institutional Source Beutler Lab
Gene Symbol Zc3h7a
Ensembl Gene ENSMUSG00000037965
Gene Name zinc finger CCCH type containing 7 A
Synonyms A430104C18Rik, Zc3h7
MMRRC Submission 041623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R4078 (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 10969011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 450 (V450E)
Ref Sequence ENSEMBL: ENSMUSP00000119480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037633] [ENSMUST00000128083] [ENSMUST00000138185] [ENSMUST00000140755]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037633
AA Change: V450E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: V450E

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: ENSMUST00000128083
AA Change: V450E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: V450E

DomainStartEndE-ValueType
Pfam:TPR_11 41 120 2.7e-8 PFAM
Blast:TPR 124 156 4e-9 BLAST
low complexity region 308 319 N/A INTRINSIC
low complexity region 380 398 N/A INTRINSIC
Blast:ZnF_C2H2 443 467 2e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000138185
AA Change: V450E

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: V450E

DomainStartEndE-ValueType
Pfam:TPR_11 41 120 3.9e-8 PFAM
Blast:TPR 124 156 6e-9 BLAST
low complexity region 308 319 N/A INTRINSIC
low complexity region 380 398 N/A INTRINSIC
Blast:ZnF_C2H2 443 467 4e-10 BLAST
Blast:ZnF_C3H1 628 654 5e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139391
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: ENSMUST00000140775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155340
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 0.0629 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (70/73)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,215,359 (GRCm39) L367* probably null Het
Agfg1 T A 1: 82,860,008 (GRCm39) S312T possibly damaging Het
Akap8 C T 17: 32,531,272 (GRCm39) R380Q probably damaging Het
Ambp T A 4: 63,068,680 (GRCm39) K112N probably damaging Het
Arl5c A T 11: 97,884,327 (GRCm39) I88N probably damaging Het
Asah1 A G 8: 41,807,119 (GRCm39) S102P probably damaging Het
Atp10b T C 11: 43,044,110 (GRCm39) V112A probably benign Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cabs1 G A 5: 88,128,161 (GRCm39) E271K probably damaging Het
Car8 T C 4: 8,169,731 (GRCm39) K259R possibly damaging Het
Ccdc18 C T 5: 108,306,394 (GRCm39) Q270* probably null Het
Cdh4 A G 2: 179,530,966 (GRCm39) E616G possibly damaging Het
Cdk11b C T 4: 155,724,204 (GRCm39) probably benign Het
Cfap74 A G 4: 155,540,128 (GRCm39) D975G probably damaging Het
Col27a1 G T 4: 63,142,669 (GRCm39) R119L probably damaging Het
Col7a1 A G 9: 108,790,059 (GRCm39) N918S unknown Het
Colec11 T C 12: 28,645,246 (GRCm39) N142D possibly damaging Het
Cox7a2 G A 9: 79,665,852 (GRCm39) Q10* probably null Het
Cyp2b23 C A 7: 26,372,517 (GRCm39) G366V probably damaging Het
Eif1ad3 A G 12: 87,843,401 (GRCm39) K16R unknown Het
Emsy G A 7: 98,239,932 (GRCm39) P1108S probably damaging Het
Etl4 A T 2: 20,812,772 (GRCm39) R1442S probably damaging Het
Fam151a G A 4: 106,604,954 (GRCm39) G439S probably benign Het
Fat1 C T 8: 45,442,159 (GRCm39) P1154S probably damaging Het
Fat4 G A 3: 39,034,169 (GRCm39) S2607N probably damaging Het
Fzd7 T A 1: 59,522,948 (GRCm39) M277K possibly damaging Het
Fzd9 A G 5: 135,278,490 (GRCm39) V465A probably benign Het
Gm38706 G T 6: 130,460,700 (GRCm39) noncoding transcript Het
Gm9758 T A 5: 14,961,536 (GRCm39) probably null Het
Gpr3 T C 4: 132,938,226 (GRCm39) T149A probably damaging Het
Heatr9 C A 11: 83,403,254 (GRCm39) K428N probably benign Het
Hgs T A 11: 120,373,874 (GRCm39) S723T probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kcnn3 A G 3: 89,568,495 (GRCm39) K591R possibly damaging Het
Khdrbs2 T C 1: 32,558,895 (GRCm39) probably benign Het
Lpp G A 16: 24,500,611 (GRCm39) R141H probably damaging Het
Lrpap1 A G 5: 35,253,381 (GRCm39) I261T possibly damaging Het
Macf1 T A 4: 123,365,884 (GRCm39) Q2959L probably benign Het
Mipep T A 14: 61,083,926 (GRCm39) Y606N probably damaging Het
Mroh5 C A 15: 73,657,889 (GRCm39) C547F possibly damaging Het
Nek3 A T 8: 22,622,153 (GRCm39) W363R probably damaging Het
Nphs1 T A 7: 30,166,945 (GRCm39) Y717* probably null Het
Obscn A G 11: 58,929,189 (GRCm39) V6145A probably benign Het
Optc T C 1: 133,826,087 (GRCm39) H270R probably damaging Het
Or1l4 T A 2: 37,092,024 (GRCm39) I257N possibly damaging Het
Or2l5 T A 16: 19,333,982 (GRCm39) M135L possibly damaging Het
Or5p80 T A 7: 108,230,114 (GRCm39) M305K probably benign Het
Or9r7 G A 10: 129,962,587 (GRCm39) T113I probably damaging Het
Pik3c2g A G 6: 139,612,608 (GRCm39) probably benign Het
Pms1 A T 1: 53,306,948 (GRCm39) probably null Het
Pramel51 T A 12: 88,142,683 (GRCm39) I312F probably benign Het
Prkg1 T C 19: 31,562,978 (GRCm39) Y156C probably damaging Het
Prol1 A G 5: 88,476,075 (GRCm39) N155S unknown Het
Rapgefl1 A G 11: 98,740,803 (GRCm39) T552A probably benign Het
Slc22a28 T A 19: 8,078,777 (GRCm39) H304L probably benign Het
Stox1 C T 10: 62,501,810 (GRCm39) C250Y probably benign Het
Sult2a3 A G 7: 13,855,662 (GRCm39) W65R possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Syne2 C A 12: 76,082,398 (GRCm39) T4857K probably damaging Het
Tcp1 T C 17: 13,136,970 (GRCm39) L64S probably benign Het
Thap11 G T 8: 106,582,548 (GRCm39) E186* probably null Het
Tmem67 A G 4: 12,040,633 (GRCm39) probably null Het
Trappc10 T C 10: 78,046,216 (GRCm39) Y458C probably damaging Het
Ufd1 A G 16: 18,644,528 (GRCm39) Y197C possibly damaging Het
Ung G T 5: 114,268,684 (GRCm39) probably null Het
Usp49 A G 17: 47,985,674 (GRCm39) T245A probably damaging Het
Washc1 A T 17: 66,424,156 (GRCm39) E289D probably benign Het
Zcchc17 T G 4: 130,223,418 (GRCm39) I123L possibly damaging Het
Zfp955a A G 17: 33,460,675 (GRCm39) Y486H probably benign 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
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
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'- TGCTGCCGAAATGATCTCAAG -3'
(R):5'- TTGCAGATGAATGGACCAGG -3'

Sequencing Primer
(F):5'- CTCAAGAGGAAATCTAACTGCTCATG -3'
(R):5'- ACCAGGTAATTTGTTGGCCTC -3'
Posted On 2015-05-15