Incidental Mutation 'R8302:Kazald1'
ID 646479
Institutional Source Beutler Lab
Gene Symbol Kazald1
Ensembl Gene ENSMUSG00000025213
Gene Name Kazal-type serine peptidase inhibitor domain 1
Synonyms Igfbp-rp10, Bono1
MMRRC Submission 067790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R8302 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 45063680-45067728 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45065278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 53 (L53Q)
Ref Sequence ENSEMBL: ENSMUSP00000026234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026234] [ENSMUST00000111948]
AlphaFold Q8BJ66
Predicted Effect probably damaging
Transcript: ENSMUST00000026234
AA Change: L53Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026234
Gene: ENSMUSG00000025213
AA Change: L53Q

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
Pfam:IGFBP 60 115 4.4e-7 PFAM
KAZAL 132 175 7.29e-7 SMART
IGc2 191 267 1.06e-11 SMART
low complexity region 299 308 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111948
AA Change: L53Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107579
Gene: ENSMUSG00000025213
AA Change: L53Q

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
Pfam:IGFBP 60 115 4.4e-7 PFAM
KAZAL 132 175 7.29e-7 SMART
IGc2 191 267 1.06e-11 SMART
low complexity region 299 308 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,853,406 (GRCm39) probably null Het
Ank3 T C 10: 69,840,810 (GRCm39) S1937P possibly damaging Het
Atg5 T A 10: 44,162,115 (GRCm39) D10E probably benign Het
Car12 A G 9: 66,654,879 (GRCm39) D103G probably benign Het
Cpa3 A G 3: 20,276,316 (GRCm39) Y306H probably damaging Het
Cyp2c40 A G 19: 39,796,066 (GRCm39) V104A probably damaging Het
Cyp2c66 A T 19: 39,165,078 (GRCm39) H353L probably damaging Het
Cyp2d22 A G 15: 82,256,021 (GRCm39) probably null Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Exph5 A G 9: 53,287,776 (GRCm39) E1619G possibly damaging Het
Frmd5 T A 2: 121,378,060 (GRCm39) T435S unknown Het
Gm3371 T C 14: 44,641,181 (GRCm39) R128G Het
Gper1 A G 5: 139,412,030 (GRCm39) D125G probably benign Het
Il17re C A 6: 113,443,280 (GRCm39) S340* probably null Het
Kdm3b A T 18: 34,967,388 (GRCm39) H1731L probably damaging Het
Kif20a T C 18: 34,765,030 (GRCm39) S755P probably damaging Het
Lrch1 T C 14: 75,032,772 (GRCm39) N526S probably benign Het
Map3k8 T C 18: 4,334,064 (GRCm39) I343V probably damaging Het
Nabp1 A T 1: 51,511,498 (GRCm39) F140L probably benign Het
Ncor1 A G 11: 62,224,681 (GRCm39) S860P probably benign Het
Ndufaf5 T A 2: 140,030,698 (GRCm39) Y195N possibly damaging Het
Nsfl1c T C 2: 151,346,056 (GRCm39) L157P probably damaging Het
Or2aj5 T A 16: 19,425,116 (GRCm39) I100L probably benign Het
Or4c104 T A 2: 88,586,987 (GRCm39) I11F possibly damaging Het
Or5ak24 T A 2: 85,260,430 (GRCm39) T248S possibly damaging Het
Pcdh10 A G 3: 45,335,933 (GRCm39) Y749C probably damaging Het
Plcz1 T A 6: 139,974,163 (GRCm39) K93I probably damaging Het
Plpbp T C 8: 27,539,216 (GRCm39) S109P Het
Prkdc G A 16: 15,653,946 (GRCm39) R3901H probably damaging Het
Psma6 A T 12: 55,456,966 (GRCm39) Y103F probably benign Het
Ptpn3 A G 4: 57,218,514 (GRCm39) F650L probably benign Het
Pxk T C 14: 8,164,094 (GRCm38) F562S probably damaging Het
Rbl2 A G 8: 91,812,073 (GRCm39) D214G probably damaging Het
Rgs17 C T 10: 5,812,525 (GRCm39) C58Y possibly damaging Het
Rnf6 A T 5: 146,148,334 (GRCm39) V228E probably benign Het
Sardh T C 2: 27,105,122 (GRCm39) D667G probably benign Het
Slc12a1 T A 2: 125,032,209 (GRCm39) V620D probably damaging Het
Slc39a7 A G 17: 34,249,686 (GRCm39) I153T probably damaging Het
Slc5a11 T C 7: 122,847,162 (GRCm39) V125A probably damaging Het
Slc9c1 T C 16: 45,368,058 (GRCm39) F216L probably benign Het
Strip1 A T 3: 107,533,024 (GRCm39) I208N probably damaging Het
Top1 T C 2: 160,545,496 (GRCm39) M288T probably damaging Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trmt2a T C 16: 18,067,813 (GRCm39) V162A probably damaging Het
Wdr35 T C 12: 9,078,110 (GRCm39) I1167T probably benign Het
Wdr76 C A 2: 121,341,044 (GRCm39) H30N probably benign Het
Zan A G 5: 137,407,923 (GRCm39) S3624P unknown Het
Zc3h7a T C 16: 10,955,249 (GRCm39) K942E probably damaging Het
Zfp292 A G 4: 34,810,893 (GRCm39) V722A possibly damaging Het
Zfp943 A G 17: 22,211,091 (GRCm39) H59R probably benign Het
Other mutations in Kazald1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03347:Kazald1 APN 19 45,066,855 (GRCm39) missense possibly damaging 0.90
R4643:Kazald1 UTSW 19 45,066,788 (GRCm39) missense probably benign 0.27
R6397:Kazald1 UTSW 19 45,065,317 (GRCm39) missense probably benign 0.03
R7170:Kazald1 UTSW 19 45,066,855 (GRCm39) missense probably benign 0.29
R8919:Kazald1 UTSW 19 45,065,395 (GRCm39) missense probably damaging 1.00
R9120:Kazald1 UTSW 19 45,065,211 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CCAGGCTTCTTTGTTAGGGC -3'
(R):5'- ACAGATCTGCGCGTAGGTTC -3'

Sequencing Primer
(F):5'- TCAAGCTTTTATACAGCCTTGAC -3'
(R):5'- TCCTCGACTCAGGTCACCG -3'
Posted On 2020-09-02