Incidental Mutation 'R4496:Ikzf5'
ID 374402
Institutional Source Beutler Lab
Gene Symbol Ikzf5
Ensembl Gene ENSMUSG00000040167
Gene Name IKAROS family zinc finger 5
Synonyms Zfpn1a5, 2610034F18Rik
MMRRC Submission 041749-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4496 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 130990378-131012243 bp(-) (GRCm39)
Type of Mutation splice site (77 bp from exon)
DNA Base Change (assembly) T to C at 130998393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046306] [ENSMUST00000121033] [ENSMUST00000124096] [ENSMUST00000128432] [ENSMUST00000142349] [ENSMUST00000154602] [ENSMUST00000207243]
AlphaFold Q8BU00
Predicted Effect probably benign
Transcript: ENSMUST00000046306
SMART Domains Protein: ENSMUSP00000035583
Gene: ENSMUSG00000040167

DomainStartEndE-ValueType
ZnF_C2H2 82 104 3.58e-2 SMART
ZnF_C2H2 110 132 1.53e-1 SMART
ZnF_C2H2 138 161 1.79e-2 SMART
low complexity region 289 320 N/A INTRINSIC
ZnF_C2H2 364 386 8.09e0 SMART
ZnF_C2H2 392 416 9.22e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121033
SMART Domains Protein: ENSMUSP00000113714
Gene: ENSMUSG00000040167

DomainStartEndE-ValueType
ZnF_C2H2 82 104 3.58e-2 SMART
low complexity region 136 167 N/A INTRINSIC
ZnF_C2H2 211 233 8.09e0 SMART
ZnF_C2H2 239 263 9.22e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128432
SMART Domains Protein: ENSMUSP00000139528
Gene: ENSMUSG00000040167

DomainStartEndE-ValueType
ZnF_C2H2 82 104 1.5e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000142349
Predicted Effect probably benign
Transcript: ENSMUST00000154602
SMART Domains Protein: ENSMUSP00000123530
Gene: ENSMUSG00000040167

DomainStartEndE-ValueType
ZnF_C2H2 82 104 3.58e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208700
Predicted Effect probably benign
Transcript: ENSMUST00000207489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207838
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,602,947 (GRCm39) L514H possibly damaging Het
Abca7 T C 10: 79,838,768 (GRCm39) F647S probably damaging Het
Ahi1 A G 10: 20,841,444 (GRCm39) K244E probably benign Het
Ankhd1 G A 18: 36,693,839 (GRCm39) D17N probably damaging Het
Arvcf G T 16: 18,223,932 (GRCm39) K890N probably damaging Het
Atosa T A 9: 74,938,813 (GRCm39) S1038T probably damaging Het
Atp11c T C X: 59,326,104 (GRCm39) D478G probably damaging Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Clca3a2 C T 3: 144,797,926 (GRCm39) D180N possibly damaging Het
Comt T C 16: 18,230,437 (GRCm39) probably null Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Cyp2d11 C T 15: 82,276,149 (GRCm39) probably benign Het
Fam169b G T 7: 68,007,954 (GRCm39) C289F possibly damaging Het
Fastkd5 T C 2: 130,458,501 (GRCm39) T30A probably benign Het
Fchsd2 A C 7: 100,931,702 (GRCm39) T753P probably benign Het
Gatd3a T C 10: 77,999,377 (GRCm39) I145V probably damaging Het
Glis3 G A 19: 28,643,527 (GRCm39) S5L possibly damaging Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Gpt A T 15: 76,582,663 (GRCm39) Q276L probably damaging Het
Gtf3c3 G T 1: 54,463,291 (GRCm39) S302R probably benign Het
Hnrnpc A G 14: 52,312,888 (GRCm39) S229P probably benign Het
Mal2 T C 15: 54,461,835 (GRCm39) V110A probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo3b A G 2: 70,084,748 (GRCm39) D702G probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nat10 T A 2: 103,588,084 (GRCm39) I14F probably damaging Het
Nat14 C T 7: 4,926,918 (GRCm39) T30M probably damaging Het
Ndst4 C A 3: 125,476,922 (GRCm39) A49D probably damaging Het
Nnt A T 13: 119,518,301 (GRCm39) M292K probably damaging Het
Obox7 C T 7: 14,399,299 (GRCm39) T175I probably benign Het
Or2t26 T A 11: 49,039,214 (GRCm39) N43K possibly damaging Het
Or6c5c T G 10: 129,299,430 (GRCm39) V295G possibly damaging Het
Plekhm3 T C 1: 64,900,395 (GRCm39) E634G probably damaging Het
Plxdc2 T A 2: 16,517,040 (GRCm39) I107K probably damaging Het
Psmb10 T A 8: 106,662,660 (GRCm39) R226S probably damaging Het
Ptprr T A 10: 116,065,407 (GRCm39) V160E possibly damaging Het
Sema5a T A 15: 32,641,133 (GRCm39) L649H probably damaging Het
Sephs1 T A 2: 4,911,494 (GRCm39) I356K probably benign Het
Serpinb3d C T 1: 107,007,022 (GRCm39) V229M probably damaging Het
Slc7a4 T C 16: 17,393,676 (GRCm39) D41G probably damaging Het
Sort1 T C 3: 108,217,461 (GRCm39) V121A probably benign Het
Tcf20 C A 15: 82,739,185 (GRCm39) Q755H probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttll13 A T 7: 79,906,667 (GRCm39) Y445F probably benign Het
Usp40 T C 1: 87,923,459 (GRCm39) I271V possibly damaging Het
Vmn1r72 A G 7: 11,403,791 (GRCm39) I219T probably damaging Het
Other mutations in Ikzf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03149:Ikzf5 APN 7 130,998,494 (GRCm39) missense probably damaging 1.00
R0545:Ikzf5 UTSW 7 130,994,229 (GRCm39) missense possibly damaging 0.87
R0583:Ikzf5 UTSW 7 130,993,514 (GRCm39) splice site probably null
R1471:Ikzf5 UTSW 7 130,993,496 (GRCm39) missense probably damaging 1.00
R2680:Ikzf5 UTSW 7 130,998,490 (GRCm39) missense probably damaging 1.00
R4625:Ikzf5 UTSW 7 130,995,482 (GRCm39) critical splice donor site probably null
R6307:Ikzf5 UTSW 7 130,993,377 (GRCm39) missense probably damaging 1.00
R6828:Ikzf5 UTSW 7 130,993,401 (GRCm39) missense probably damaging 1.00
R7475:Ikzf5 UTSW 7 130,993,788 (GRCm39) missense probably benign 0.31
R9733:Ikzf5 UTSW 7 130,994,012 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AACCTTTCAAGAAGACTGTAACAAT -3'
(R):5'- TGTTCCCTAGATATAACAGACTTTCAA -3'

Sequencing Primer
(F):5'- TGGTGGCTCACAAACATCTG -3'
(R):5'- AACCAGAGCCTTTGGACT -3'
Posted On 2016-03-07