Incidental Mutation 'R0831:Zc3h7a'
ID 77578
Institutional Source Beutler Lab
Gene Symbol Zc3h7a
Ensembl Gene ENSMUSG00000037965
Gene Name zinc finger CCCH type containing 7 A
Synonyms A430104C18Rik, Zc3h7
MMRRC Submission 039010-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R0831 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 10954458-10994257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10969744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 386 (S386P)
Ref Sequence ENSEMBL: ENSMUSP00000114246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037633] [ENSMUST00000128083] [ENSMUST00000130355] [ENSMUST00000138185] [ENSMUST00000140755]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037633
AA Change: S386P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: S386P

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 damaging
Transcript: ENSMUST00000128083
AA Change: S386P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: S386P

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
SMART Domains Protein: ENSMUSP00000120931
Gene: ENSMUSG00000037965

DomainStartEndE-ValueType
Pfam:TPR_11 41 120 4.4e-9 PFAM
Blast:TPR 124 156 2e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000138185
AA Change: S386P

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: S386P

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: ENSMUST00000145457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143926
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 0.0721 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.9%
  • 20x: 92.0%
Validation Efficiency 95% (82/86)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik C T 7: 12,284,523 (GRCm39) probably benign Het
3425401B19Rik T C 14: 32,384,228 (GRCm39) N579S probably benign Het
Adck1 G T 12: 88,335,118 (GRCm39) M1I probably null Het
Adgra3 A T 5: 50,128,144 (GRCm39) I779N probably damaging Het
Adgrf2 A G 17: 43,021,334 (GRCm39) S497P probably damaging Het
Afg3l2 A C 18: 67,554,297 (GRCm39) F468L probably damaging Het
Alms1 T A 6: 85,605,502 (GRCm39) I2384N probably benign Het
Ankrd13b A T 11: 77,363,585 (GRCm39) S244R probably damaging Het
Aox1 T A 1: 58,378,842 (GRCm39) H1030Q probably benign Het
Ap1b1 A G 11: 4,973,092 (GRCm39) probably benign Het
Atxn2l A G 7: 126,098,332 (GRCm39) S187P probably damaging Het
B4galt4 G T 16: 38,588,341 (GRCm39) E57D probably benign Het
Cad T C 5: 31,224,944 (GRCm39) V949A probably damaging Het
Cadps2 C T 6: 23,321,739 (GRCm39) S1051N possibly damaging Het
Ccdc66 C T 14: 27,219,313 (GRCm39) V148I probably benign Het
Ccser1 C T 6: 61,400,045 (GRCm39) P55S probably damaging Het
Cds2 T C 2: 132,127,887 (GRCm39) probably null Het
Cep95 A G 11: 106,705,530 (GRCm39) D548G probably benign Het
Chil3 A G 3: 106,057,063 (GRCm39) Y294H probably benign Het
Chmp5 A G 4: 40,949,500 (GRCm39) D39G probably damaging Het
Chrd T A 16: 20,560,059 (GRCm39) F887I probably damaging Het
Col24a1 G T 3: 145,034,520 (GRCm39) G580V probably damaging Het
Col6a2 A T 10: 76,439,939 (GRCm39) N655K probably damaging Het
Ctsf A T 19: 4,909,868 (GRCm39) Y416F possibly damaging Het
Dennd5a A C 7: 109,533,961 (GRCm39) V77G probably damaging Het
Dna2 A T 10: 62,795,108 (GRCm39) K460* probably null Het
Dnah17 A T 11: 117,951,097 (GRCm39) M2842K probably damaging Het
Dnajc13 C A 9: 104,049,811 (GRCm39) G1765V probably damaging Het
Donson A C 16: 91,480,651 (GRCm39) C243W probably damaging Het
Dpp8 A T 9: 64,985,961 (GRCm39) N817I possibly damaging Het
Eef1d G A 15: 75,768,655 (GRCm39) probably benign Het
Esf1 T A 2: 140,010,279 (GRCm39) D19V probably damaging Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
Gm9867 C A 4: 140,049,799 (GRCm39) A128S unknown Het
Igsf23 G T 7: 19,675,662 (GRCm39) probably benign Het
Inhca T C 9: 103,146,978 (GRCm39) H292R possibly damaging Het
Kdm7a C A 6: 39,143,699 (GRCm39) probably benign Het
Kif14 G A 1: 136,453,609 (GRCm39) probably benign Het
Mroh7 T C 4: 106,537,990 (GRCm39) N1229D possibly damaging Het
Mrps11 C A 7: 78,441,611 (GRCm39) probably benign Het
Mtmr2 T A 9: 13,707,409 (GRCm39) D248E probably damaging Het
Myrfl C A 10: 116,619,114 (GRCm39) S748I probably benign Het
Nop14 T C 5: 34,807,864 (GRCm39) E366G possibly damaging Het
Or13c3 T G 4: 52,855,764 (GRCm39) I250L possibly damaging Het
Or2w25 C T 11: 59,504,480 (GRCm39) T230I possibly damaging Het
Or52z13 A G 7: 103,247,338 (GRCm39) I272V probably benign Het
Or7e177 T A 9: 20,211,861 (GRCm39) C123S probably benign Het
Or8g2b C T 9: 39,751,579 (GRCm39) P283L probably damaging Het
Phykpl G T 11: 51,476,366 (GRCm39) E29* probably null Het
Plppr4 A G 3: 117,125,295 (GRCm39) probably null Het
Prmt2 A C 10: 76,043,641 (GRCm39) probably benign Het
Prodh2 T A 7: 30,193,649 (GRCm39) Y114* probably null Het
Prr23a2 C A 9: 98,738,917 (GRCm39) H92N probably damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rdx C A 9: 51,977,117 (GRCm39) A122E probably damaging Het
Rspo3 T G 10: 29,330,253 (GRCm39) D236A unknown Het
Sdk2 A T 11: 113,723,084 (GRCm39) D1302E probably damaging Het
Sipa1 A T 19: 5,710,382 (GRCm39) D209E probably damaging Het
Sirpa T G 2: 129,469,856 (GRCm39) probably benign Het
Ska1 A C 18: 74,330,570 (GRCm39) probably benign Het
Slc4a9 T C 18: 36,668,331 (GRCm39) probably benign Het
Slco1b2 T C 6: 141,631,172 (GRCm39) V602A probably benign Het
Slco2a1 T C 9: 102,959,533 (GRCm39) V543A probably damaging Het
Sorcs3 A T 19: 48,682,433 (GRCm39) L489F probably damaging Het
Sorl1 T C 9: 41,982,365 (GRCm39) probably benign Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Spindoc G T 19: 7,352,100 (GRCm39) N82K probably benign Het
Stk17b C A 1: 53,796,651 (GRCm39) C372F probably damaging Het
Tbck A G 3: 132,428,052 (GRCm39) probably benign Het
Thoc1 C T 18: 9,963,267 (GRCm39) T127I probably benign Het
Togaram2 G T 17: 72,023,439 (GRCm39) R765L probably damaging Het
Tprg1 A G 16: 25,136,219 (GRCm39) Y70C probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umodl1 T C 17: 31,215,325 (GRCm39) Y1050H probably damaging Het
Vmn1r205 T A 13: 22,776,586 (GRCm39) D172V probably benign Het
Vmn1r79 A T 7: 11,910,990 (GRCm39) N291Y probably damaging Het
Vmn2r112 T A 17: 22,833,980 (GRCm39) N549K probably damaging Het
Vrk3 T A 7: 44,414,227 (GRCm39) L241Q 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
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
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'- TGCTCTGACAGATCCAGTCACACAC -3'
(R):5'- TTGAAAACCGTGGGCTCCAGGATG -3'

Sequencing Primer
(F):5'- GTCACACACTCAAAACATTTATACTG -3'
(R):5'- AGCCCTCTTTTGTCAGTAGTAAG -3'
Posted On 2013-10-16