Incidental Mutation 'R1499:Zc3h7a'
ID 168733
Institutional Source Beutler Lab
Gene Symbol Zc3h7a
Ensembl Gene ENSMUSG00000037965
Gene Name zinc finger CCCH type containing 7 A
Synonyms A430104C18Rik, Zc3h7
MMRRC Submission 039550-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R1499 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 10954458-10994257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10980520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 31 (T31I)
Ref Sequence ENSEMBL: ENSMUSP00000120720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037633] [ENSMUST00000125537] [ENSMUST00000128083] [ENSMUST00000130355] [ENSMUST00000138185] [ENSMUST00000140755] [ENSMUST00000142389]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037633
AA Change: T31I

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: T31I

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 noncoding transcript
Transcript: ENSMUST00000082631
Predicted Effect probably damaging
Transcript: ENSMUST00000125537
AA Change: T31I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122525
Gene: ENSMUSG00000037965
AA Change: T31I

DomainStartEndE-ValueType
Blast:TPR 43 76 2e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000128083
AA Change: T31I

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: T31I

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: ENSMUST00000130355
AA Change: T31I

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120931
Gene: ENSMUSG00000037965
AA Change: T31I

DomainStartEndE-ValueType
Pfam:TPR_11 41 120 4.4e-9 PFAM
Blast:TPR 124 156 2e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000138185
AA Change: T31I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: T31I

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 probably damaging
Transcript: ENSMUST00000140755
AA Change: T31I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120720
Gene: ENSMUSG00000037965
AA Change: T31I

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 probably damaging
Transcript: ENSMUST00000142389
AA Change: T31I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114432
Gene: ENSMUSG00000037965
AA Change: T31I

DomainStartEndE-ValueType
Blast:TPR 43 76 2e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142844
Meta Mutation Damage Score 0.1095 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 99% (83/84)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,030,458 (GRCm39) Y763F probably benign Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Actl11 A G 9: 107,808,682 (GRCm39) T1002A probably damaging Het
Ampd1 T A 3: 102,998,980 (GRCm39) N378K probably damaging Het
Arhgap42 A G 9: 9,033,587 (GRCm39) probably benign Het
Arhgap6 C A X: 167,579,499 (GRCm39) P95T possibly damaging Het
Atg14 T C 14: 47,798,102 (GRCm39) N87S probably benign Het
Atp9b C T 18: 80,805,353 (GRCm39) C735Y probably damaging Het
Atp9b T A 18: 80,822,122 (GRCm39) T110S probably benign Het
Birc6 T G 17: 74,919,314 (GRCm39) L221R probably damaging Het
Ces1c A G 8: 93,854,233 (GRCm39) F101L probably benign Het
Cfap91 A G 16: 38,141,762 (GRCm39) V390A probably damaging Het
Chsy1 T C 7: 65,821,750 (GRCm39) Y662H probably damaging Het
Cldn12 A T 5: 5,557,900 (GRCm39) F176I probably benign Het
Col5a2 A G 1: 45,450,626 (GRCm39) S374P probably benign Het
Col6a2 A T 10: 76,439,544 (GRCm39) V740E probably damaging Het
Cpne3 A T 4: 19,526,336 (GRCm39) I401K probably damaging Het
Cspp1 T A 1: 10,159,191 (GRCm39) probably null Het
Ddn G A 15: 98,704,647 (GRCm39) T215I possibly damaging Het
Dync1i1 T C 6: 5,769,799 (GRCm39) probably benign Het
Dync2li1 T C 17: 84,954,667 (GRCm39) probably benign Het
Eif2a T A 3: 58,445,005 (GRCm39) L50* probably null Het
Elavl3 G A 9: 21,929,875 (GRCm39) A343V probably damaging Het
Fastkd1 T C 2: 69,538,982 (GRCm39) probably null Het
Fgf8 C A 19: 45,730,786 (GRCm39) V80F possibly damaging Het
Fras1 A T 5: 96,891,046 (GRCm39) E2858D probably benign Het
Fshr A T 17: 89,293,529 (GRCm39) L383Q probably damaging Het
Glb1 A G 9: 114,246,171 (GRCm39) K74R probably benign Het
Gmeb2 T G 2: 180,897,019 (GRCm39) M290L probably benign Het
Gnptg A G 17: 25,454,828 (GRCm39) probably null Het
Grik2 A C 10: 49,008,871 (GRCm39) S739A probably damaging Het
Grk2 T A 19: 4,337,222 (GRCm39) Q659L probably benign Het
Hdhd5 A G 6: 120,491,473 (GRCm39) V210A probably damaging Het
Hyal1 C T 9: 107,455,091 (GRCm39) L134F probably damaging Het
Itgb2 A T 10: 77,381,987 (GRCm39) K18N possibly damaging Het
Jam3 A T 9: 27,017,701 (GRCm39) I29K possibly damaging Het
Kcnh3 C A 15: 99,137,796 (GRCm39) D830E probably benign Het
Kcnmb4 T C 10: 116,309,203 (GRCm39) D75G possibly damaging Het
Kdm4b A G 17: 56,707,025 (GRCm39) Y981C probably damaging Het
Klk1b26 C A 7: 43,665,810 (GRCm39) D207E probably benign Het
Kmt2a G T 9: 44,759,563 (GRCm39) T762N probably benign Het
Kmt2d A G 15: 98,742,819 (GRCm39) probably benign Het
Lama4 T C 10: 38,964,876 (GRCm39) S1414P possibly damaging Het
Lce1f C G 3: 92,626,276 (GRCm39) C127S unknown Het
Map7d1 A G 4: 126,128,558 (GRCm39) probably null Het
Ninl T C 2: 150,822,096 (GRCm39) D2G possibly damaging Het
Or2w1b T A 13: 21,300,303 (GRCm39) M147K probably benign Het
Or5k3 A G 16: 58,969,287 (GRCm39) T25A probably benign Het
Or5m11b C T 2: 85,806,372 (GRCm39) P262S possibly damaging Het
Or6n1 T A 1: 173,916,813 (GRCm39) L69* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pax8 A G 2: 24,319,608 (GRCm39) Y381H possibly damaging Het
Pde7a T C 3: 19,314,408 (GRCm39) I63V possibly damaging Het
Pgm3 A T 9: 86,452,340 (GRCm39) F40Y probably benign Het
Phrf1 G T 7: 140,836,564 (GRCm39) D78Y probably damaging Het
Plekhg1 C T 10: 3,890,538 (GRCm39) probably benign Het
Prss59 A T 6: 40,898,652 (GRCm39) S199T probably benign Het
Pum1 T C 4: 130,446,567 (GRCm39) S209P probably damaging Het
Qtrt2 A T 16: 43,689,337 (GRCm39) F220L probably benign Het
Rgs9 A G 11: 109,159,747 (GRCm39) probably null Het
Rin3 A G 12: 102,335,018 (GRCm39) T230A unknown Het
Ros1 A T 10: 51,974,773 (GRCm39) V1604E possibly damaging Het
Rpp14 A G 14: 8,090,528 (GRCm38) M151V probably benign Het
Sacs T A 14: 61,451,153 (GRCm39) F4400I possibly damaging Het
Scamp1 C T 13: 94,361,437 (GRCm39) V148I probably benign Het
Slc13a5 A G 11: 72,141,557 (GRCm39) C428R probably damaging Het
Slc43a2 T G 11: 75,453,733 (GRCm39) probably null Het
Smarcc2 T A 10: 128,299,741 (GRCm39) N135K probably damaging Het
Snx15 G C 19: 6,172,094 (GRCm39) S116R probably damaging Het
Stag1 A G 9: 100,737,885 (GRCm39) E414G possibly damaging Het
Stag1 A T 9: 100,769,426 (GRCm39) probably benign Het
Tmem106a T A 11: 101,481,263 (GRCm39) L257Q possibly damaging Het
Tnc C T 4: 63,882,991 (GRCm39) D1968N probably benign Het
Trim42 A G 9: 97,248,138 (GRCm39) L186P possibly damaging Het
Tshb T A 3: 102,685,624 (GRCm39) probably benign Het
Ttn T A 2: 76,584,484 (GRCm39) D13881V probably damaging Het
Uqcrc2 T C 7: 120,239,506 (GRCm39) V56A probably benign Het
Uty G A Y: 1,197,228 (GRCm39) T113I probably damaging Het
Vps13c A G 9: 67,864,787 (GRCm39) E3032G probably benign Het
Wfdc9 T G 2: 164,493,729 (GRCm39) probably benign Het
Zfp462 T C 4: 55,060,046 (GRCm39) S1191P 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
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'- TGTCCAGAAATGCCCCGAAAGG -3'
(R):5'- GCTGAATTATGCTGATAGAGGGCCTG -3'

Sequencing Primer
(F):5'- cacacaggcaccacagag -3'
(R):5'- TGGTACAgcatggtagagcg -3'
Posted On 2014-04-13