Incidental Mutation 'IGL02037:Zfp946'
ID 184537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp946
Ensembl Gene ENSMUSG00000071266
Gene Name zinc finger protein 946
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02037
Quality Score
Status
Chromosome 17
Chromosomal Location 22424222-22456689 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22453488 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 23 (S23P)
Ref Sequence ENSEMBL: ENSMUSP00000132940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088763] [ENSMUST00000120222] [ENSMUST00000167740]
AlphaFold F6VWU8
Predicted Effect probably damaging
Transcript: ENSMUST00000088763
AA Change: S23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086141
Gene: ENSMUSG00000071266
AA Change: S23P

DomainStartEndE-ValueType
KRAB 13 71 4.49e-17 SMART
ZnF_C2H2 186 208 3.83e-2 SMART
ZnF_C2H2 242 264 1.6e-4 SMART
ZnF_C2H2 270 292 1.45e-2 SMART
ZnF_C2H2 298 320 5.99e-4 SMART
ZnF_C2H2 326 348 2.15e-5 SMART
ZnF_C2H2 354 376 2.4e-3 SMART
ZnF_C2H2 382 404 1.28e-3 SMART
ZnF_C2H2 410 432 2.09e-3 SMART
ZnF_C2H2 438 460 9.44e-2 SMART
ZnF_C2H2 466 488 3.44e-4 SMART
ZnF_C2H2 494 516 1.5e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120222
AA Change: S23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113244
Gene: ENSMUSG00000071266
AA Change: S23P

DomainStartEndE-ValueType
KRAB 13 71 4.49e-17 SMART
ZnF_C2H2 186 208 3.83e-2 SMART
ZnF_C2H2 242 264 1.6e-4 SMART
ZnF_C2H2 270 292 1.45e-2 SMART
ZnF_C2H2 298 320 5.99e-4 SMART
ZnF_C2H2 326 348 2.15e-5 SMART
ZnF_C2H2 354 376 2.4e-3 SMART
ZnF_C2H2 382 404 1.28e-3 SMART
ZnF_C2H2 410 432 2.09e-3 SMART
ZnF_C2H2 438 460 9.44e-2 SMART
ZnF_C2H2 466 488 3.44e-4 SMART
ZnF_C2H2 494 516 1.5e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167740
AA Change: S23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132940
Gene: ENSMUSG00000071266
AA Change: S23P

DomainStartEndE-ValueType
KRAB 13 71 4.49e-17 SMART
ZnF_C2H2 186 208 3.83e-2 SMART
ZnF_C2H2 242 264 1.6e-4 SMART
ZnF_C2H2 270 292 1.45e-2 SMART
ZnF_C2H2 298 320 5.99e-4 SMART
ZnF_C2H2 326 348 2.15e-5 SMART
ZnF_C2H2 354 376 2.4e-3 SMART
ZnF_C2H2 382 404 1.28e-3 SMART
ZnF_C2H2 410 432 2.09e-3 SMART
ZnF_C2H2 438 460 9.44e-2 SMART
ZnF_C2H2 466 488 3.44e-4 SMART
ZnF_C2H2 494 516 1.5e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T A 6: 92,828,016 probably benign Het
Ace2 T A X: 164,164,000 V293D probably damaging Het
Adgrg6 T C 10: 14,441,441 Y545C probably damaging Het
Arhgap40 A G 2: 158,534,822 T293A probably damaging Het
Arhgef19 A G 4: 141,246,396 T65A probably damaging Het
Brf1 A G 12: 112,993,062 probably null Het
Cbfb T C 8: 105,178,620 S65P possibly damaging Het
Chsy1 T C 7: 66,171,828 S604P possibly damaging Het
Ckmt1 T C 2: 121,361,162 V271A probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd2 T C 4: 128,477,470 probably benign Het
D430041D05Rik A G 2: 104,208,214 probably benign Het
Dsg1c A G 18: 20,276,950 T492A probably benign Het
Fam160a1 T G 3: 85,730,632 K120T probably damaging Het
Fam3a G A X: 74,386,635 T156I probably damaging Het
Fbn2 A T 18: 58,096,015 C708S probably damaging Het
Fgf5 G A 5: 98,261,972 G127R probably damaging Het
Fn3k A T 11: 121,435,083 Y32F probably benign Het
Frem3 T C 8: 80,611,489 I137T probably benign Het
Hc T C 2: 35,013,519 D1041G probably benign Het
Heatr6 T A 11: 83,764,882 probably benign Het
Hivep1 G A 13: 42,156,077 A598T probably benign Het
Ifngr1 T C 10: 19,607,259 S254P probably benign Het
Kel T C 6: 41,697,474 S341G probably benign Het
Klra6 A C 6: 130,013,476 M224R probably benign Het
Mis18bp1 A G 12: 65,136,748 probably null Het
Mpeg1 C T 19: 12,463,296 T706I probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Olfr1043 G T 2: 86,162,837 F37L probably benign Het
Palld T C 8: 61,525,114 R881G probably damaging Het
Pdha2 A T 3: 141,210,901 V282E probably damaging Het
Pga5 C T 19: 10,676,701 R46Q probably benign Het
Plekhg2 T C 7: 28,368,697 Y189C probably damaging Het
Rnf43 A G 11: 87,731,653 T527A probably benign Het
Rplp0 G A 5: 115,561,115 R73Q probably benign Het
Smco3 A G 6: 136,831,199 *226R probably null Het
Sugp2 T C 8: 70,259,674 probably benign Het
Tsga10 T C 1: 37,807,017 I343V probably benign Het
Ube2q2 A G 9: 55,168,218 K104E probably damaging Het
Ube3a C T 7: 59,275,758 probably benign Het
Usp11 T C X: 20,719,142 I785T probably damaging Het
Vmn2r22 A T 6: 123,649,067 C137S probably damaging Het
Zfp281 T C 1: 136,627,447 V721A possibly damaging Het
Zfyve1 A G 12: 83,547,920 V766A probably damaging Het
Other mutations in Zfp946
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Zfp946 APN 17 22454662 missense possibly damaging 0.88
IGL01869:Zfp946 APN 17 22454703 missense probably benign 0.45
IGL03111:Zfp946 APN 17 22454556 missense possibly damaging 0.76
R0324:Zfp946 UTSW 17 22454436 missense probably benign 0.41
R1252:Zfp946 UTSW 17 22453579 critical splice donor site probably null
R1733:Zfp946 UTSW 17 22453557 missense probably damaging 1.00
R1971:Zfp946 UTSW 17 22455425 missense probably damaging 1.00
R2064:Zfp946 UTSW 17 22455465 missense probably damaging 1.00
R2106:Zfp946 UTSW 17 22453485 missense probably benign 0.30
R2216:Zfp946 UTSW 17 22454716 missense possibly damaging 0.49
R3899:Zfp946 UTSW 17 22454550 missense probably benign 0.05
R3924:Zfp946 UTSW 17 22455701 missense probably benign 0.06
R4125:Zfp946 UTSW 17 22454567 nonsense probably null
R4493:Zfp946 UTSW 17 22451086 splice site probably null
R4694:Zfp946 UTSW 17 22455711 missense probably benign 0.16
R4924:Zfp946 UTSW 17 22455521 missense probably damaging 1.00
R4939:Zfp946 UTSW 17 22455437 missense probably damaging 1.00
R5020:Zfp946 UTSW 17 22455603 missense probably benign 0.03
R5248:Zfp946 UTSW 17 22454466 missense probably benign 0.12
R5547:Zfp946 UTSW 17 22454892 missense probably benign 0.00
R5551:Zfp946 UTSW 17 22455384 missense probably damaging 1.00
R5573:Zfp946 UTSW 17 22454695 nonsense probably null
R6048:Zfp946 UTSW 17 22454840 missense probably benign 0.03
R6080:Zfp946 UTSW 17 22455109 missense probably benign 0.00
R6198:Zfp946 UTSW 17 22454915 missense probably damaging 1.00
R6332:Zfp946 UTSW 17 22454538 missense probably damaging 1.00
R6766:Zfp946 UTSW 17 22455771 missense probably benign 0.01
R7132:Zfp946 UTSW 17 22454663 missense probably benign 0.41
R7248:Zfp946 UTSW 17 22453508 nonsense probably null
R7695:Zfp946 UTSW 17 22455021 missense probably benign 0.05
R8113:Zfp946 UTSW 17 22455500 missense probably damaging 1.00
R9380:Zfp946 UTSW 17 22454699 missense probably benign 0.06
R9408:Zfp946 UTSW 17 22454588 missense possibly damaging 0.83
X0065:Zfp946 UTSW 17 22455513 missense probably benign 0.05
Posted On 2014-05-07