Incidental Mutation 'R4905:Zcchc4'
ID 378093
Institutional Source Beutler Lab
Gene Symbol Zcchc4
Ensembl Gene ENSMUSG00000029179
Gene Name zinc finger, CCHC domain containing 4
Synonyms 4930449I23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R4905 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 52932751-52982007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52953992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 224 (I224T)
Ref Sequence ENSEMBL: ENSMUSP00000109537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031077] [ENSMUST00000113904]
AlphaFold Q8BKW4
Predicted Effect probably damaging
Transcript: ENSMUST00000031077
AA Change: I224T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179
AA Change: I224T

DomainStartEndE-ValueType
Pfam:zf-GRF 37 81 2.9e-19 PFAM
Pfam:N6-adenineMlase 168 337 5.1e-11 PFAM
ZnF_C2HC 442 458 1.27e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113901
SMART Domains Protein: ENSMUSP00000109534
Gene: ENSMUSG00000029179

DomainStartEndE-ValueType
ZnF_C2HC 226 242 1.27e-2 SMART
low complexity region 248 266 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113904
AA Change: I224T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
AA Change: I224T

DomainStartEndE-ValueType
Pfam:zf-GRF 37 81 2.4e-17 PFAM
Pfam:N6-adenineMlase 168 338 7.1e-11 PFAM
ZnF_C2HC 442 458 1.27e-2 SMART
low complexity region 464 482 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198465
Predicted Effect probably benign
Transcript: ENSMUST00000199840
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,448,680 (GRCm39) probably null Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abcc5 A G 16: 20,218,678 (GRCm39) S235P probably damaging Het
Abcc6 T C 7: 45,644,649 (GRCm39) N842S probably benign Het
Acbd6 G A 1: 155,500,669 (GRCm39) V210I probably benign Het
Ahctf1 A T 1: 179,576,192 (GRCm39) V2130D probably damaging Het
Akap5 A G 12: 76,375,207 (GRCm39) E213G probably damaging Het
Alyref T G 11: 120,486,879 (GRCm39) probably null Het
Anapc5 G T 5: 122,955,973 (GRCm39) N152K probably benign Het
Atp8b2 A T 3: 89,856,315 (GRCm39) D416E probably benign Het
AW551984 A T 9: 39,508,454 (GRCm39) V354E probably damaging Het
Bag6 A G 17: 35,364,162 (GRCm39) E844G probably damaging Het
Bmp1 C T 14: 70,728,802 (GRCm39) R590H probably benign Het
Ccnh T C 13: 85,354,254 (GRCm39) S233P possibly damaging Het
Cdca7 TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA 2: 72,312,205 (GRCm39) probably benign Het
Col6a6 A G 9: 105,644,623 (GRCm39) S1222P probably damaging Het
Dhfr G A 13: 92,502,282 (GRCm39) G118S probably damaging Het
Dnah9 G A 11: 65,764,950 (GRCm39) R1414* probably null Het
Dnai1 A G 4: 41,614,269 (GRCm39) D315G probably benign Het
Eogt T C 6: 97,119,792 (GRCm39) R139G probably benign Het
Fcgbpl1 A T 7: 27,856,408 (GRCm39) K2065M possibly damaging Het
Fh1 C T 1: 175,446,639 (GRCm39) G79E probably damaging Het
Gabrg3 A G 7: 56,374,304 (GRCm39) Y421H probably damaging Het
Glipr1 C A 10: 111,821,545 (GRCm39) R219L probably damaging Het
Gm1123 T C 9: 98,891,369 (GRCm39) D360G probably benign Het
Ift81 C T 5: 122,729,142 (GRCm39) probably null Het
Itsn2 A G 12: 4,684,583 (GRCm39) probably benign Het
Kri1 A T 9: 21,198,998 (GRCm39) H55Q probably benign Het
Mcidas C T 13: 113,134,038 (GRCm39) T174M possibly damaging Het
Mcidas C A 13: 113,130,951 (GRCm39) A92E possibly damaging Het
Mmp25 C A 17: 23,863,022 (GRCm39) G130* probably null Het
Myh11 G A 16: 14,068,387 (GRCm39) T211M probably benign Het
Myo10 A G 15: 25,800,298 (GRCm39) D1458G probably damaging Het
Ncf4 A G 15: 78,139,104 (GRCm39) T154A probably damaging Het
Nfatc4 T C 14: 56,068,039 (GRCm39) I620T probably benign Het
Nos3 A T 5: 24,572,329 (GRCm39) Y134F probably benign Het
Nup50l T A 6: 96,142,911 (GRCm39) R44S possibly damaging Het
Or13c3 T C 4: 52,855,613 (GRCm39) N300S probably damaging Het
Or51a6 A T 7: 102,604,721 (GRCm39) I36N probably damaging Het
Or5b106 C A 19: 13,123,541 (GRCm39) A161S probably benign Het
Or6c209 T A 10: 129,483,792 (GRCm39) V265E possibly damaging Het
Pax9 G T 12: 56,743,411 (GRCm39) R19S probably damaging Het
Pcdha9 T C 18: 37,131,945 (GRCm39) I338T probably damaging Het
Plxnb2 G T 15: 89,041,614 (GRCm39) T1730K probably damaging Het
Rac1 A G 5: 143,502,907 (GRCm39) probably null Het
Samsn1 G T 16: 75,673,353 (GRCm39) F174L possibly damaging Het
Scaf1 G A 7: 44,662,129 (GRCm39) T86M probably damaging Het
Smc1b A G 15: 84,950,428 (GRCm39) Y1199H probably damaging Het
Svep1 A G 4: 58,069,308 (GRCm39) I2826T probably benign Het
Tex36 A G 7: 133,189,182 (GRCm39) V130A probably damaging Het
Tigd5 A G 15: 75,783,252 (GRCm39) H538R probably damaging Het
Tlr3 C A 8: 45,852,260 (GRCm39) probably null Het
Tubb2b A T 13: 34,312,187 (GRCm39) I202N probably damaging Het
Unc13c A G 9: 73,587,674 (GRCm39) V1453A probably benign Het
Unc5c A T 3: 141,507,071 (GRCm39) T608S probably benign Het
Vrk1 C A 12: 106,018,087 (GRCm39) H119N probably damaging Het
Wdr53 T A 16: 32,075,476 (GRCm39) M227K probably benign Het
Xpo4 T C 14: 57,875,746 (GRCm39) D129G possibly damaging Het
Zdhhc1 T A 8: 106,210,326 (GRCm39) E30D probably damaging Het
Zscan29 C G 2: 120,991,864 (GRCm39) R540T possibly damaging Het
Other mutations in Zcchc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Zcchc4 APN 5 52,973,511 (GRCm39) missense probably benign 0.05
IGL00953:Zcchc4 APN 5 52,965,638 (GRCm39) missense probably damaging 1.00
IGL01860:Zcchc4 APN 5 52,965,698 (GRCm39) missense probably damaging 1.00
IGL02248:Zcchc4 APN 5 52,953,418 (GRCm39) missense probably damaging 1.00
IGL02536:Zcchc4 APN 5 52,965,658 (GRCm39) missense probably damaging 1.00
R0060:Zcchc4 UTSW 5 52,964,420 (GRCm39) missense possibly damaging 0.67
R0060:Zcchc4 UTSW 5 52,964,420 (GRCm39) missense possibly damaging 0.67
R0573:Zcchc4 UTSW 5 52,953,321 (GRCm39) missense probably damaging 1.00
R0634:Zcchc4 UTSW 5 52,940,550 (GRCm39) missense probably benign 0.15
R1353:Zcchc4 UTSW 5 52,964,419 (GRCm39) missense probably benign 0.03
R1791:Zcchc4 UTSW 5 52,953,932 (GRCm39) missense probably damaging 1.00
R1854:Zcchc4 UTSW 5 52,973,168 (GRCm39) missense probably damaging 1.00
R2108:Zcchc4 UTSW 5 52,953,474 (GRCm39) missense probably damaging 0.99
R2696:Zcchc4 UTSW 5 52,953,573 (GRCm39) missense probably damaging 1.00
R2991:Zcchc4 UTSW 5 52,961,780 (GRCm39) missense probably damaging 1.00
R3894:Zcchc4 UTSW 5 52,941,442 (GRCm39) missense probably damaging 1.00
R4523:Zcchc4 UTSW 5 52,941,409 (GRCm39) missense probably damaging 1.00
R4672:Zcchc4 UTSW 5 52,953,947 (GRCm39) missense probably benign 0.00
R4772:Zcchc4 UTSW 5 52,953,549 (GRCm39) missense possibly damaging 0.83
R4954:Zcchc4 UTSW 5 52,976,559 (GRCm39) missense probably damaging 1.00
R5093:Zcchc4 UTSW 5 52,953,952 (GRCm39) missense probably benign 0.38
R5371:Zcchc4 UTSW 5 52,942,512 (GRCm39) missense probably benign 0.19
R5401:Zcchc4 UTSW 5 52,964,419 (GRCm39) missense probably benign 0.03
R5755:Zcchc4 UTSW 5 52,973,511 (GRCm39) missense probably benign 0.00
R6110:Zcchc4 UTSW 5 52,953,486 (GRCm39) missense possibly damaging 0.95
R6244:Zcchc4 UTSW 5 52,940,503 (GRCm39) missense probably benign 0.00
R6465:Zcchc4 UTSW 5 52,976,618 (GRCm39) missense probably benign 0.03
R6906:Zcchc4 UTSW 5 52,980,976 (GRCm39) missense possibly damaging 0.66
R7019:Zcchc4 UTSW 5 52,941,375 (GRCm39) missense probably benign 0.00
R7363:Zcchc4 UTSW 5 52,942,510 (GRCm39) missense possibly damaging 0.88
R7643:Zcchc4 UTSW 5 52,965,635 (GRCm39) missense possibly damaging 0.85
R8097:Zcchc4 UTSW 5 52,953,333 (GRCm39) missense probably benign 0.34
R8158:Zcchc4 UTSW 5 52,973,260 (GRCm39) missense probably damaging 1.00
R8372:Zcchc4 UTSW 5 52,953,506 (GRCm39) missense probably damaging 1.00
R8545:Zcchc4 UTSW 5 52,976,741 (GRCm39) intron probably benign
R8755:Zcchc4 UTSW 5 52,976,724 (GRCm39) missense unknown
R9414:Zcchc4 UTSW 5 52,953,964 (GRCm39) missense probably benign 0.00
R9530:Zcchc4 UTSW 5 52,953,568 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GTAAAACTAAGGTGAGCCAGATTCTC -3'
(R):5'- CACCTGTTCACGGAGGAAAAG -3'

Sequencing Primer
(F):5'- CTAAGGTGAGCCAGATTCTCTGCAG -3'
(R):5'- GTGGTCCACAGTACCATTTGAAAC -3'
Posted On 2016-04-15