Incidental Mutation 'R6375:Zfp637'
ID 514911
Institutional Source Beutler Lab
Gene Symbol Zfp637
Ensembl Gene ENSMUSG00000059689
Gene Name zinc finger protein 637
Synonyms
MMRRC Submission 044525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R6375 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 117818165-117822917 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 117822285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 138 (R138W)
Ref Sequence ENSEMBL: ENSMUSP00000152569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112858] [ENSMUST00000112859] [ENSMUST00000112860] [ENSMUST00000112861] [ENSMUST00000134526] [ENSMUST00000137224] [ENSMUST00000164472] [ENSMUST00000136889] [ENSMUST00000223041]
AlphaFold Q80V23
Predicted Effect probably benign
Transcript: ENSMUST00000112858
Predicted Effect probably benign
Transcript: ENSMUST00000112859
Predicted Effect probably damaging
Transcript: ENSMUST00000112860
AA Change: R138W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108481
Gene: ENSMUSG00000059689
AA Change: R138W

DomainStartEndE-ValueType
ZnF_C2H2 90 112 3.69e-4 SMART
ZnF_C2H2 118 140 1.84e-4 SMART
ZnF_C2H2 146 168 9.22e-5 SMART
ZnF_C2H2 174 196 8.47e-4 SMART
ZnF_C2H2 202 224 2.84e-5 SMART
ZnF_C2H2 230 252 5.34e0 SMART
ZnF_C2H2 258 278 1.08e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112861
AA Change: R124W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108482
Gene: ENSMUSG00000059689
AA Change: R124W

DomainStartEndE-ValueType
ZnF_C2H2 76 98 3.69e-4 SMART
ZnF_C2H2 104 126 1.84e-4 SMART
ZnF_C2H2 132 154 9.22e-5 SMART
ZnF_C2H2 160 182 8.47e-4 SMART
ZnF_C2H2 188 210 2.84e-5 SMART
ZnF_C2H2 216 238 5.34e0 SMART
ZnF_C2H2 244 264 1.08e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132644
Predicted Effect probably damaging
Transcript: ENSMUST00000134526
AA Change: R124W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115733
Gene: ENSMUSG00000059689
AA Change: R124W

DomainStartEndE-ValueType
ZnF_C2H2 76 98 3.69e-4 SMART
ZnF_C2H2 104 126 1.84e-4 SMART
ZnF_C2H2 132 152 2.45e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000137224
AA Change: R138W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120884
Gene: ENSMUSG00000059689
AA Change: R138W

DomainStartEndE-ValueType
ZnF_C2H2 90 112 3.69e-4 SMART
ZnF_C2H2 118 140 1.84e-4 SMART
ZnF_C2H2 146 168 9.22e-5 SMART
ZnF_C2H2 174 196 8.47e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164472
AA Change: R124W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130144
Gene: ENSMUSG00000059689
AA Change: R124W

DomainStartEndE-ValueType
ZnF_C2H2 76 98 3.69e-4 SMART
ZnF_C2H2 104 126 1.84e-4 SMART
ZnF_C2H2 132 154 9.22e-5 SMART
ZnF_C2H2 160 182 8.47e-4 SMART
ZnF_C2H2 188 210 2.84e-5 SMART
ZnF_C2H2 216 238 5.34e0 SMART
ZnF_C2H2 244 264 1.08e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000136889
AA Change: R124W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123106
Gene: ENSMUSG00000059689
AA Change: R124W

DomainStartEndE-ValueType
ZnF_C2H2 76 98 3.69e-4 SMART
ZnF_C2H2 104 126 1.84e-4 SMART
ZnF_C2H2 132 152 2.45e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000223041
AA Change: R138W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9409 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,536 (GRCm39) I797N possibly damaging Het
Actbl2 A G 13: 111,392,478 (GRCm39) E271G probably damaging Het
Aplp2 T C 9: 31,069,084 (GRCm39) N526D probably benign Het
Cacna1e A C 1: 154,355,051 (GRCm39) N389K probably damaging Het
Ccdc18 T C 5: 108,322,820 (GRCm39) I640T possibly damaging Het
Ccdc39 T A 3: 33,868,516 (GRCm39) T857S probably benign Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Efhc1 T A 1: 21,043,164 (GRCm39) M361K probably benign Het
Eml5 T C 12: 98,765,127 (GRCm39) Het
Fgfr2 C A 7: 129,769,475 (GRCm39) L637F probably damaging Het
Fmo9 A G 1: 166,492,164 (GRCm39) probably null Het
Gm4302 A G 10: 100,177,258 (GRCm39) T181A probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hoxb4 A G 11: 96,211,153 (GRCm39) *251W probably null Het
Il1r1 T A 1: 40,334,050 (GRCm39) Y207N probably damaging Het
Kcnc2 C T 10: 112,299,094 (GRCm39) T622M possibly damaging Het
Kcnk9 C T 15: 72,418,092 (GRCm39) A13T probably benign Het
Kdm4c C T 4: 74,248,952 (GRCm39) P69S probably damaging Het
Kmt2e T C 5: 23,704,517 (GRCm39) S1237P probably benign Het
Lrrc37a G A 11: 103,391,915 (GRCm39) T1170I probably benign Het
Lyn T A 4: 3,745,527 (GRCm39) F109I probably damaging Het
Lynx1 T C 15: 74,623,168 (GRCm39) Y88C probably damaging Het
Mon1b T A 8: 114,364,709 (GRCm39) I162N probably damaging Het
Muc4 A G 16: 32,555,061 (GRCm39) probably benign Het
Nbn T A 4: 15,979,327 (GRCm39) F437L probably benign Het
Neil3 T C 8: 54,040,311 (GRCm39) K564E possibly damaging Het
Nfe2l1 A T 11: 96,710,877 (GRCm39) S293T probably damaging Het
Or10al5 T A 17: 38,062,990 (GRCm39) S82T probably benign Het
Or14c39 C T 7: 86,344,267 (GRCm39) A201V probably benign Het
Or2ag2 C A 7: 106,485,221 (GRCm39) A268S probably benign Het
Or51g2 T C 7: 102,622,960 (GRCm39) T80A probably damaging Het
Pcdhb22 A T 18: 37,651,357 (GRCm39) probably benign Het
Pcdhgb6 A G 18: 37,875,678 (GRCm39) N129D probably damaging Het
Pias2 C T 18: 77,240,366 (GRCm39) T574M possibly damaging Het
Plec G A 15: 76,061,840 (GRCm39) T2564I probably damaging Het
Qrich2 A G 11: 116,349,054 (GRCm39) probably benign Het
Scgb1b12 T A 7: 32,033,884 (GRCm39) V48E probably damaging Het
Scn5a A T 9: 119,372,422 (GRCm39) L224Q probably damaging Het
Snx3 T A 10: 42,410,727 (GRCm39) Y132* probably null Het
Stk39 T A 2: 68,222,582 (GRCm39) I161F probably benign Het
Tcaf2 A C 6: 42,603,112 (GRCm39) L816R probably damaging Het
Thap4 C A 1: 93,652,878 (GRCm39) probably null Het
Tmc5 T A 7: 118,256,037 (GRCm39) V704E probably damaging Het
Tmem39a A G 16: 38,405,599 (GRCm39) T59A probably benign Het
Tshz2 A G 2: 169,727,939 (GRCm39) N376S probably damaging Het
Vmn1r60 T C 7: 5,548,017 (GRCm39) N28D probably damaging Het
Other mutations in Zfp637
AlleleSourceChrCoordTypePredicted EffectPPH Score
curds UTSW 6 117,822,285 (GRCm39) missense probably damaging 1.00
R0009:Zfp637 UTSW 6 117,822,629 (GRCm39) missense probably damaging 0.97
R0594:Zfp637 UTSW 6 117,822,647 (GRCm39) nonsense probably null
R0827:Zfp637 UTSW 6 117,822,405 (GRCm39) missense possibly damaging 0.71
R1772:Zfp637 UTSW 6 117,822,373 (GRCm39) missense probably damaging 1.00
R1920:Zfp637 UTSW 6 117,822,681 (GRCm39) missense probably damaging 1.00
R5383:Zfp637 UTSW 6 117,820,270 (GRCm39) utr 5 prime probably benign
R5659:Zfp637 UTSW 6 117,820,291 (GRCm39) missense probably damaging 1.00
R5890:Zfp637 UTSW 6 117,822,047 (GRCm39) missense possibly damaging 0.92
R8169:Zfp637 UTSW 6 117,822,252 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAAAGTCCCCGGAGTCTAAGG -3'
(R):5'- TATAGGGCTTCTCACCGCTG -3'

Sequencing Primer
(F):5'- AGTCTAAGGCCCTCCAGGAAG -3'
(R):5'- ACCGCTGTGAACTCTTCGGTG -3'
Posted On 2018-05-04