Incidental Mutation 'R5217:Zfp998'
ID 403562
Institutional Source Beutler Lab
Gene Symbol Zfp998
Ensembl Gene ENSMUSG00000074832
Gene Name zinc finger protein 998
Synonyms Gt(Ayu21)35Imeg, Gt(pU21)35Imeg, 2410141K09Rik, Snerv1
MMRRC Submission 042790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5217 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 66566173-66589179 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66581787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 28 (L28H)
Ref Sequence ENSEMBL: ENSMUSP00000134048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091541] [ENSMUST00000172579] [ENSMUST00000173583]
AlphaFold K7N769
Predicted Effect probably damaging
Transcript: ENSMUST00000091541
AA Change: L28H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089126
Gene: ENSMUSG00000074832
AA Change: L28H

DomainStartEndE-ValueType
KRAB 4 66 6.16e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172579
AA Change: L28H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134352
Gene: ENSMUSG00000074832
AA Change: L28H

DomainStartEndE-ValueType
KRAB 4 66 3.3e-15 SMART
ZnF_C2H2 75 97 1.72e-4 SMART
ZnF_C2H2 103 125 1.06e-4 SMART
ZnF_C2H2 131 153 5.81e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173583
AA Change: L28H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134048
Gene: ENSMUSG00000074832
AA Change: L28H

DomainStartEndE-ValueType
KRAB 4 66 6.16e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225647
Meta Mutation Damage Score 0.8042 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933428M09Rik G T X: 138,080,282 (GRCm39) G16* probably null Het
Abhd11 T A 5: 135,040,398 (GRCm39) W144R probably damaging Het
Abhd2 A G 7: 78,973,378 (GRCm39) E119G probably benign Het
Acbd3 A G 1: 180,553,938 (GRCm39) Y91C probably benign Het
Aox4 C A 1: 58,285,400 (GRCm39) S628* probably null Het
Bahcc1 T A 11: 120,165,285 (GRCm39) Y905* probably null Het
Baiap2l2 T G 15: 79,154,687 (GRCm39) S211R probably benign Het
Cab39l T A 14: 59,764,258 (GRCm39) Y206* probably null Het
Cacna1i A T 15: 80,275,041 (GRCm39) T1830S possibly damaging Het
Catsperg1 A T 7: 28,889,723 (GRCm39) L793* probably null Het
Cdh10 G T 15: 18,966,108 (GRCm39) V198F probably damaging Het
Cenpk A T 13: 104,385,917 (GRCm39) I271F probably damaging Het
Chchd4 A T 6: 91,442,260 (GRCm39) C53S probably damaging Het
Cluh T G 11: 74,550,531 (GRCm39) C252W probably damaging Het
Cmklr1 G T 5: 113,752,710 (GRCm39) A97E probably damaging Het
Coil C A 11: 88,871,987 (GRCm39) A116D possibly damaging Het
Eif1ad9 A G 12: 88,296,196 (GRCm39) H58R probably benign Het
F830045P16Rik C A 2: 129,305,493 (GRCm39) V294F probably damaging Het
Fgd6 T A 10: 93,969,939 (GRCm39) M1196K possibly damaging Het
Gabra5 G A 7: 57,140,604 (GRCm39) S31L probably benign Het
Gm7135 A T 1: 97,362,790 (GRCm39) noncoding transcript Het
Gon4l C A 3: 88,794,882 (GRCm39) T695K probably damaging Het
Hectd4 A G 5: 121,491,614 (GRCm39) H3684R possibly damaging Het
Ica1l T A 1: 60,054,917 (GRCm39) M105L probably benign Het
Ift70a1 A G 2: 75,811,147 (GRCm39) L312P probably damaging Het
Igkv8-24 A T 6: 70,194,386 (GRCm39) V7D probably damaging Het
Klf10 G A 15: 38,296,331 (GRCm39) R420W probably damaging Het
Klrc2 C A 6: 129,633,843 (GRCm39) W177C probably damaging Het
Krit1 T A 5: 3,856,451 (GRCm39) C15* probably null Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lrrc37a C T 11: 103,347,780 (GRCm39) V2972I unknown Het
Mapkapk5 T C 5: 121,672,492 (GRCm39) D13G probably damaging Het
Mcph1 T A 8: 18,838,489 (GRCm39) L804I probably damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mrto4 A G 4: 139,075,770 (GRCm39) Y119H probably benign Het
Nbeal2 G T 9: 110,461,158 (GRCm39) A1635E possibly damaging Het
Ndc1 T C 4: 107,246,773 (GRCm39) S399P probably benign Het
Ndufv2 A G 17: 66,394,424 (GRCm39) I147T probably damaging Het
Neb C A 2: 52,052,142 (GRCm39) E382* probably null Het
Nhsl3 C T 4: 129,116,478 (GRCm39) E729K probably damaging Het
Nme8 T A 13: 19,880,861 (GRCm39) I32F probably damaging Het
Obox5 T A 7: 15,491,793 (GRCm39) probably null Het
Or8g23 A G 9: 38,971,065 (GRCm39) V299A probably benign Het
Pcdhb19 A T 18: 37,630,939 (GRCm39) M245L probably benign Het
Pex5l A T 3: 33,061,477 (GRCm39) probably null Het
Phrf1 T G 7: 140,840,616 (GRCm39) D1270E probably damaging Het
Pik3r5 A G 11: 68,382,790 (GRCm39) K277E possibly damaging Het
Ppan T C 9: 20,802,221 (GRCm39) V204A possibly damaging Het
Ppp1r9a A T 6: 5,115,367 (GRCm39) N830I probably damaging Het
Pxn C G 5: 115,682,974 (GRCm39) A92G probably benign Het
Qsox1 A G 1: 155,666,742 (GRCm39) V249A probably benign Het
Rgl3 T A 9: 21,898,944 (GRCm39) *88C probably null Het
Rps6kc1 A T 1: 190,515,802 (GRCm39) W975R probably damaging Het
Sash1 G T 10: 8,656,368 (GRCm39) A208D possibly damaging Het
Simc1 A T 13: 54,687,709 (GRCm39) probably benign Het
Sox7 T C 14: 64,185,449 (GRCm39) Y162H probably damaging Het
Srp72 T A 5: 77,128,375 (GRCm39) L171H probably damaging Het
Stab1 T A 14: 30,881,476 (GRCm39) Y577F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tagln T C 9: 45,842,177 (GRCm39) T139A probably benign Het
Thbs3 T C 3: 89,130,471 (GRCm39) probably null Het
Tmem216 G A 19: 10,529,155 (GRCm39) T131M possibly damaging Het
Tmprss11c A G 5: 86,404,249 (GRCm39) V142A probably benign Het
Trarg1 C G 11: 76,585,102 (GRCm39) A164G possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubtf T C 11: 102,199,128 (GRCm39) M511V probably null Het
Ugt2b36 A T 5: 87,214,114 (GRCm39) V510E probably damaging Het
Vars2 G C 17: 35,969,041 (GRCm39) P887A probably damaging Het
Vmn2r80 A G 10: 79,004,980 (GRCm39) M206V possibly damaging Het
Zbtb5 A G 4: 44,993,990 (GRCm39) F465L probably benign Het
Zfp119a G A 17: 56,172,425 (GRCm39) Q473* probably null Het
Zfp607a T G 7: 27,577,269 (GRCm39) I113R probably damaging Het
Zmym6 C A 4: 126,999,167 (GRCm39) N450K possibly damaging Het
Other mutations in Zfp998
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2698:Zfp998 UTSW 13 66,581,495 (GRCm39) missense probably damaging 0.99
R2881:Zfp998 UTSW 13 66,579,329 (GRCm39) missense probably damaging 1.00
R5401:Zfp998 UTSW 13 66,579,722 (GRCm39) missense probably benign 0.01
R5429:Zfp998 UTSW 13 66,579,887 (GRCm39) missense probably benign 0.00
R5532:Zfp998 UTSW 13 66,579,740 (GRCm39) missense probably damaging 1.00
R5626:Zfp998 UTSW 13 66,580,040 (GRCm39) missense probably benign 0.00
R5686:Zfp998 UTSW 13 66,579,722 (GRCm39) missense probably benign 0.01
R6151:Zfp998 UTSW 13 66,579,740 (GRCm39) missense probably damaging 1.00
R6173:Zfp998 UTSW 13 66,579,608 (GRCm39) missense probably benign 0.00
R6857:Zfp998 UTSW 13 66,580,161 (GRCm39) missense probably benign
R7405:Zfp998 UTSW 13 66,579,118 (GRCm39) missense unknown
R7737:Zfp998 UTSW 13 66,581,738 (GRCm39) critical splice donor site probably null
R8482:Zfp998 UTSW 13 66,579,797 (GRCm39) intron probably benign
R9260:Zfp998 UTSW 13 66,579,375 (GRCm39) missense unknown
Z1088:Zfp998 UTSW 13 66,579,800 (GRCm39) missense probably benign 0.00
Z1088:Zfp998 UTSW 13 66,579,245 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTATGTCTTCGAGAACTTTGACATG -3'
(R):5'- GTTGATCTGTATCCCCTTGCAA -3'

Sequencing Primer
(F):5'- CGAGAACTTTGACATGGTTCTTC -3'
(R):5'- GCTATCTCCTAGGCAAAAGGTTC -3'
Posted On 2016-07-22