Incidental Mutation 'R4059:Zfp715'
ID 314381
Institutional Source Beutler Lab
Gene Symbol Zfp715
Ensembl Gene ENSMUSG00000012640
Gene Name zinc finger protein 715
Synonyms 2610041B18Rik, mszf15
MMRRC Submission 040970-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R4059 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 42945946-42962724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42951155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 48 (M48V)
Ref Sequence ENSEMBL: ENSMUSP00000012796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012796] [ENSMUST00000048015] [ENSMUST00000107986] [ENSMUST00000135130] [ENSMUST00000139061] [ENSMUST00000145622]
AlphaFold G3X9T1
Predicted Effect probably benign
Transcript: ENSMUST00000012796
AA Change: M48V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000012796
Gene: ENSMUSG00000012640
AA Change: M48V

DomainStartEndE-ValueType
KRAB 48 108 3.87e-30 SMART
ZnF_C2H2 124 146 3.39e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000048015
AA Change: M48V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: M48V

DomainStartEndE-ValueType
KRAB 48 108 3.87e-30 SMART
ZnF_C2H2 356 378 1.28e-3 SMART
ZnF_C2H2 384 406 1.03e-2 SMART
ZnF_C2H2 412 434 4.79e-3 SMART
ZnF_C2H2 440 462 1.45e-2 SMART
ZnF_C2H2 468 490 1.12e-3 SMART
ZnF_C2H2 496 518 2.57e-3 SMART
ZnF_C2H2 524 546 4.79e-3 SMART
ZnF_C2H2 552 574 1.92e-2 SMART
ZnF_C2H2 580 602 9.58e-3 SMART
ZnF_C2H2 608 630 8.6e-5 SMART
ZnF_C2H2 636 658 1.13e-4 SMART
ZnF_C2H2 691 713 1.98e-4 SMART
ZnF_C2H2 719 741 8.34e-3 SMART
ZnF_C2H2 747 769 3.95e-4 SMART
ZnF_C2H2 775 797 4.94e-5 SMART
ZnF_C2H2 803 825 3.39e-3 SMART
ZnF_C2H2 831 853 1.95e-3 SMART
ZnF_C2H2 859 881 2.09e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107986
AA Change: M48V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: M48V

DomainStartEndE-ValueType
KRAB 48 108 3.87e-30 SMART
ZnF_C2H2 356 378 1.28e-3 SMART
ZnF_C2H2 384 406 1.03e-2 SMART
ZnF_C2H2 412 434 4.79e-3 SMART
ZnF_C2H2 440 462 1.45e-2 SMART
ZnF_C2H2 468 490 1.12e-3 SMART
ZnF_C2H2 496 518 2.57e-3 SMART
ZnF_C2H2 524 546 4.79e-3 SMART
ZnF_C2H2 552 574 1.92e-2 SMART
ZnF_C2H2 580 602 9.58e-3 SMART
ZnF_C2H2 608 630 8.6e-5 SMART
ZnF_C2H2 636 658 1.13e-4 SMART
ZnF_C2H2 691 713 1.98e-4 SMART
ZnF_C2H2 719 741 8.34e-3 SMART
ZnF_C2H2 747 769 3.95e-4 SMART
ZnF_C2H2 775 797 4.94e-5 SMART
ZnF_C2H2 803 825 3.39e-3 SMART
ZnF_C2H2 831 853 1.95e-3 SMART
ZnF_C2H2 859 881 2.09e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135130
AA Change: M48V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000122812
Gene: ENSMUSG00000012640
AA Change: M48V

DomainStartEndE-ValueType
KRAB 48 88 5.49e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139061
AA Change: M48V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000114600
Gene: ENSMUSG00000012640
AA Change: M48V

DomainStartEndE-ValueType
KRAB 48 108 3.87e-30 SMART
Predicted Effect unknown
Transcript: ENSMUST00000145622
AA Change: D83G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151659
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,821 (GRCm39) V301A probably benign Het
Agbl3 T C 6: 34,823,834 (GRCm39) L833P probably damaging Het
Amph T C 13: 19,326,168 (GRCm39) S633P probably damaging Het
Aspscr1 T C 11: 120,577,505 (GRCm39) V60A probably benign Het
Atp13a3 C A 16: 30,173,064 (GRCm39) C271F possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
BC051019 C T 7: 109,317,202 (GRCm39) W163* probably null Het
Capza1 T C 3: 104,732,427 (GRCm39) E245G probably damaging Het
Cd81 G T 7: 142,619,030 (GRCm39) C18F probably damaging Het
Cfap45 G T 1: 172,366,056 (GRCm39) R303L probably benign Het
Commd9 T C 2: 101,725,499 (GRCm39) V24A possibly damaging Het
Dennd4a A G 9: 64,819,174 (GRCm39) N1742D possibly damaging Het
Dgat1 G T 15: 76,388,371 (GRCm39) A182D possibly damaging Het
Dlg4 T C 11: 69,917,909 (GRCm39) L64P probably benign Het
Dna2 A G 10: 62,792,768 (GRCm39) D261G probably damaging Het
Epb41l4b C T 4: 57,024,337 (GRCm39) probably null Het
Fam13c T C 10: 70,390,338 (GRCm39) L533P probably damaging Het
Fjx1 T C 2: 102,281,066 (GRCm39) T290A possibly damaging Het
Hid1 C T 11: 115,247,565 (GRCm39) E278K probably damaging Het
Hsd3b7 T C 7: 127,400,717 (GRCm39) I57T probably damaging Het
Igfn1 A G 1: 135,897,494 (GRCm39) V1024A probably benign Het
Itgae A G 11: 73,002,960 (GRCm39) K175E probably benign Het
Klhl32 T C 4: 24,792,781 (GRCm39) T14A probably damaging Het
Krt23 T C 11: 99,376,614 (GRCm39) T181A probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc36 A G 8: 106,154,428 (GRCm39) E33G probably damaging Het
Mettl13 G T 1: 162,373,755 (GRCm39) H165Q probably damaging Het
Mocos G A 18: 24,812,447 (GRCm39) G447D probably damaging Het
Ngef T A 1: 87,413,953 (GRCm39) K399N probably damaging Het
Ntrk1 A G 3: 87,688,786 (GRCm39) L589P probably damaging Het
Or4c104 C T 2: 88,586,795 (GRCm39) V75I probably benign Het
Pcdha2 A G 18: 37,072,935 (GRCm39) S189G probably benign Het
Peg10 T G 6: 4,756,427 (GRCm39) probably benign Het
Pkhd1l1 C T 15: 44,414,156 (GRCm39) H2808Y probably benign Het
Plekhg1 A G 10: 3,907,087 (GRCm39) D668G probably damaging Het
Ptcd2 A G 13: 99,481,084 (GRCm39) C32R probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Rhoh G A 5: 66,049,931 (GRCm39) S67N probably benign Het
Rnd3 A G 2: 51,038,760 (GRCm39) F43L probably damaging Het
Runx1 A G 16: 92,441,134 (GRCm39) V225A probably benign Het
Runx1t1 T C 4: 13,889,769 (GRCm39) V566A probably benign Het
Sall2 A G 14: 52,552,028 (GRCm39) I387T probably damaging Het
Sec14l1 T A 11: 117,040,024 (GRCm39) V384D possibly damaging Het
Sh3rf3 T C 10: 58,919,355 (GRCm39) C491R probably damaging Het
Slc22a27 T A 19: 7,856,973 (GRCm39) probably benign Het
Spire1 A G 18: 67,678,783 (GRCm39) S53P probably damaging Het
Tmco3 A G 8: 13,370,848 (GRCm39) R671G probably benign Het
Tmpo A G 10: 90,998,123 (GRCm39) S555P probably benign Het
Tnip1 A G 11: 54,802,395 (GRCm39) S638P probably benign Het
Tspan8 C T 10: 115,671,187 (GRCm39) R115* probably null Het
Txnrd1 A G 10: 82,721,114 (GRCm39) E510G probably benign Het
Ucp3 T C 7: 100,131,871 (GRCm39) Y241H probably damaging Het
Vmn2r96 A G 17: 18,818,339 (GRCm39) I831V probably benign Het
Zan T C 5: 137,435,082 (GRCm39) I2104V unknown Het
Zfp619 A C 7: 39,184,823 (GRCm39) R284S probably benign Het
Other mutations in Zfp715
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Zfp715 APN 7 42,949,173 (GRCm39) missense possibly damaging 0.53
IGL00984:Zfp715 APN 7 42,949,208 (GRCm39) missense probably benign 0.28
IGL03401:Zfp715 APN 7 42,949,160 (GRCm39) missense probably benign 0.18
R0373:Zfp715 UTSW 7 42,948,760 (GRCm39) missense possibly damaging 0.96
R1167:Zfp715 UTSW 7 42,947,861 (GRCm39) missense possibly damaging 0.83
R1943:Zfp715 UTSW 7 42,949,054 (GRCm39) missense possibly damaging 0.86
R1987:Zfp715 UTSW 7 42,948,073 (GRCm39) missense possibly damaging 0.71
R2073:Zfp715 UTSW 7 42,960,544 (GRCm39) missense probably benign 0.01
R2116:Zfp715 UTSW 7 42,947,370 (GRCm39) missense possibly damaging 0.71
R2403:Zfp715 UTSW 7 42,948,692 (GRCm39) missense possibly damaging 0.91
R3707:Zfp715 UTSW 7 42,960,553 (GRCm39) missense probably benign
R3838:Zfp715 UTSW 7 42,949,180 (GRCm39) missense probably benign 0.33
R4110:Zfp715 UTSW 7 42,947,304 (GRCm39) missense possibly damaging 0.72
R4426:Zfp715 UTSW 7 42,960,516 (GRCm39) missense probably damaging 0.99
R4675:Zfp715 UTSW 7 42,949,444 (GRCm39) missense probably benign 0.15
R4898:Zfp715 UTSW 7 42,949,106 (GRCm39) missense possibly damaging 0.48
R5007:Zfp715 UTSW 7 42,949,019 (GRCm39) missense possibly damaging 0.53
R5477:Zfp715 UTSW 7 42,949,378 (GRCm39) missense probably damaging 0.99
R5574:Zfp715 UTSW 7 42,960,463 (GRCm39) missense possibly damaging 0.94
R5594:Zfp715 UTSW 7 42,949,116 (GRCm39) missense possibly damaging 0.73
R5967:Zfp715 UTSW 7 42,948,572 (GRCm39) missense probably benign 0.04
R6538:Zfp715 UTSW 7 42,948,573 (GRCm39) missense possibly damaging 0.73
R7322:Zfp715 UTSW 7 42,960,562 (GRCm39) missense possibly damaging 0.53
R7629:Zfp715 UTSW 7 42,951,100 (GRCm39) missense possibly damaging 0.92
R7934:Zfp715 UTSW 7 42,949,308 (GRCm39) nonsense probably null
R7973:Zfp715 UTSW 7 42,949,321 (GRCm39) missense possibly damaging 0.64
R8327:Zfp715 UTSW 7 42,947,482 (GRCm39) missense possibly damaging 0.64
R8348:Zfp715 UTSW 7 42,949,361 (GRCm39) missense possibly damaging 0.53
R8532:Zfp715 UTSW 7 42,949,134 (GRCm39) missense probably benign 0.00
R8532:Zfp715 UTSW 7 42,948,829 (GRCm39) missense possibly damaging 0.71
R8835:Zfp715 UTSW 7 42,948,430 (GRCm39) missense
R9150:Zfp715 UTSW 7 42,948,713 (GRCm39) missense possibly damaging 0.85
R9328:Zfp715 UTSW 7 42,947,328 (GRCm39) missense possibly damaging 0.71
R9332:Zfp715 UTSW 7 42,948,847 (GRCm39) missense probably damaging 0.98
R9619:Zfp715 UTSW 7 42,949,104 (GRCm39) nonsense probably null
R9649:Zfp715 UTSW 7 42,950,653 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGAGATTACACTTCTGATACCTCACT -3'
(R):5'- TGGATGGAAGGATTGGTTCC -3'

Sequencing Primer
(F):5'- CCTCACTATGCTTTGGAAAGAGAAG -3'
(R):5'- GGATTGGTTCCTTTATAAGCATTCTC -3'
Posted On 2015-04-30