Incidental Mutation 'R5349:Zyg11a'
ID 422761
Institutional Source Beutler Lab
Gene Symbol Zyg11a
Ensembl Gene ENSMUSG00000034645
Gene Name zyg-11 family member A, cell cycle regulator
Synonyms
MMRRC Submission 042928-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R5349 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 108038935-108075245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108040929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 675 (F675I)
Ref Sequence ENSEMBL: ENSMUSP00000152477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043793] [ENSMUST00000052999] [ENSMUST00000106690] [ENSMUST00000116307] [ENSMUST00000116309] [ENSMUST00000223127] [ENSMUST00000126900] [ENSMUST00000125647] [ENSMUST00000130942]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043793
AA Change: F673I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038478
Gene: ENSMUSG00000034645
AA Change: F673I

DomainStartEndE-ValueType
SCOP:d1jdha_ 218 700 2e-11 SMART
Blast:ARM 497 544 1e-5 BLAST
Blast:ARM 547 587 5e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000052999
SMART Domains Protein: ENSMUSP00000051268
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH_1 41 296 1.1e-60 PFAM
Pfam:ECH_2 46 225 5.1e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106690
AA Change: F675I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102301
Gene: ENSMUSG00000034645
AA Change: F675I

DomainStartEndE-ValueType
SCOP:d1jdha_ 139 621 1e-11 SMART
Blast:ARM 418 465 1e-5 BLAST
Blast:ARM 468 508 1e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106691
SMART Domains Protein: ENSMUSP00000102302
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH_1 1 119 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116307
SMART Domains Protein: ENSMUSP00000112009
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH 39 131 6.7e-17 PFAM
Pfam:ECH 124 257 5.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116309
SMART Domains Protein: ENSMUSP00000112011
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH 39 288 3.2e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133049
Predicted Effect probably damaging
Transcript: ENSMUST00000223127
AA Change: F675I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000135718
SMART Domains Protein: ENSMUSP00000114371
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH_1 1 74 9.6e-16 PFAM
Pfam:ECH_2 2 74 1.1e-11 PFAM
Pfam:ECH_1 69 184 2.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126900
Predicted Effect probably benign
Transcript: ENSMUST00000125647
SMART Domains Protein: ENSMUSP00000123913
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
low complexity region 45 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130942
SMART Domains Protein: ENSMUSP00000124746
Gene: ENSMUSG00000028601

DomainStartEndE-ValueType
Pfam:ECH 39 103 8.6e-13 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T C 19: 4,917,986 (GRCm39) E327G possibly damaging Het
Cd209d T G 8: 3,928,320 (GRCm39) M22L probably benign Het
Chrna2 T C 14: 66,380,956 (GRCm39) V75A probably damaging Het
Cnst A G 1: 179,450,462 (GRCm39) E642G possibly damaging Het
Diaph1 A G 18: 38,024,125 (GRCm39) V571A unknown Het
Dip2c C A 13: 9,672,689 (GRCm39) H1032N probably damaging Het
Eif4a3l1 A T 6: 136,306,694 (GRCm39) D385V probably damaging Het
Fbxl3 T C 14: 103,333,012 (GRCm39) probably benign Het
Glb1 T C 9: 114,263,529 (GRCm39) probably null Het
Gm8220 T C 14: 44,525,634 (GRCm39) I101T probably benign Het
Grin2b A G 6: 136,021,281 (GRCm39) C7R possibly damaging Het
Myo15a T C 11: 60,384,409 (GRCm39) I516T probably damaging Het
Nr1i3 A G 1: 171,042,641 (GRCm39) D89G possibly damaging Het
Ogfod1 T G 8: 94,781,876 (GRCm39) probably benign Het
Or4k2 G T 14: 50,424,230 (GRCm39) S148* probably null Het
Pard3 G T 8: 128,142,224 (GRCm39) D930Y probably damaging Het
Pde7b C T 10: 20,494,932 (GRCm39) C9Y probably damaging Het
Pilra T A 5: 137,829,488 (GRCm39) D192V probably damaging Het
Ptprj A G 2: 90,301,605 (GRCm39) S176P probably benign Het
Slc4a2 T C 5: 24,640,633 (GRCm39) V685A possibly damaging Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
Stox2 A G 8: 47,740,951 (GRCm39) F44L possibly damaging Het
Tlr11 T C 14: 50,598,337 (GRCm39) F108L probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A C 2: 76,638,450 (GRCm39) I13943M probably damaging Het
Wdfy4 T C 14: 32,710,856 (GRCm39) D2577G probably damaging Het
Other mutations in Zyg11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Zyg11a APN 4 108,062,099 (GRCm39) missense probably damaging 0.99
IGL01517:Zyg11a APN 4 108,058,391 (GRCm39) missense probably null 1.00
IGL01619:Zyg11a APN 4 108,062,414 (GRCm39) missense probably damaging 1.00
IGL02253:Zyg11a APN 4 108,040,892 (GRCm39) missense probably null 0.99
R0090:Zyg11a UTSW 4 108,058,544 (GRCm39) splice site probably benign
R0225:Zyg11a UTSW 4 108,061,838 (GRCm39) missense probably damaging 1.00
R0610:Zyg11a UTSW 4 108,062,054 (GRCm39) missense probably damaging 1.00
R0827:Zyg11a UTSW 4 108,067,239 (GRCm39) splice site probably benign
R1568:Zyg11a UTSW 4 108,040,843 (GRCm39) critical splice donor site probably null
R1752:Zyg11a UTSW 4 108,062,479 (GRCm39) missense possibly damaging 0.81
R2051:Zyg11a UTSW 4 108,049,244 (GRCm39) splice site probably benign
R2358:Zyg11a UTSW 4 108,053,343 (GRCm39) missense possibly damaging 0.94
R3898:Zyg11a UTSW 4 108,067,391 (GRCm39) missense probably damaging 0.99
R4288:Zyg11a UTSW 4 108,041,666 (GRCm39) missense probably damaging 1.00
R4381:Zyg11a UTSW 4 108,058,517 (GRCm39) missense possibly damaging 0.58
R4709:Zyg11a UTSW 4 108,062,268 (GRCm39) missense probably benign 0.00
R4859:Zyg11a UTSW 4 108,067,387 (GRCm39) missense probably damaging 0.98
R5303:Zyg11a UTSW 4 108,041,629 (GRCm39) critical splice donor site probably null
R5363:Zyg11a UTSW 4 108,046,819 (GRCm39) missense probably damaging 1.00
R5517:Zyg11a UTSW 4 108,061,943 (GRCm39) missense possibly damaging 0.94
R6175:Zyg11a UTSW 4 108,046,878 (GRCm39) missense probably benign 0.01
R6254:Zyg11a UTSW 4 108,038,991 (GRCm39) missense probably damaging 1.00
R6678:Zyg11a UTSW 4 108,046,878 (GRCm39) missense probably benign 0.01
R7524:Zyg11a UTSW 4 108,049,271 (GRCm39) missense probably damaging 1.00
R7789:Zyg11a UTSW 4 108,040,845 (GRCm39) missense probably damaging 1.00
R8022:Zyg11a UTSW 4 108,046,765 (GRCm39) critical splice donor site probably null
R8437:Zyg11a UTSW 4 108,075,103 (GRCm39) missense probably damaging 1.00
R8986:Zyg11a UTSW 4 108,041,628 (GRCm39) critical splice donor site probably null
R9129:Zyg11a UTSW 4 108,039,009 (GRCm39) missense probably benign 0.00
R9383:Zyg11a UTSW 4 108,046,926 (GRCm39) missense probably damaging 1.00
R9457:Zyg11a UTSW 4 108,075,102 (GRCm39) missense probably damaging 1.00
R9489:Zyg11a UTSW 4 108,062,376 (GRCm39) missense probably damaging 0.96
R9511:Zyg11a UTSW 4 108,062,420 (GRCm39) missense probably damaging 1.00
X0061:Zyg11a UTSW 4 108,051,190 (GRCm39) missense probably damaging 1.00
Z1176:Zyg11a UTSW 4 108,058,479 (GRCm39) missense probably damaging 1.00
Z1177:Zyg11a UTSW 4 108,061,997 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CTCATTTGTTTGGTAGAACACGTTC -3'
(R):5'- CAATGTGCAGTTGTTCCTCC -3'

Sequencing Primer
(F):5'- GCACACTGAATACATACGG -3'
(R):5'- CATGGAGGCATCTTCTCAACTGAG -3'
Posted On 2016-08-04