Incidental Mutation 'R1448:Katnal1'
ID159028
Institutional Source Beutler Lab
Gene Symbol Katnal1
Ensembl Gene ENSMUSG00000041298
Gene Namekatanin p60 subunit A-like 1
Synonyms
MMRRC Submission 039503-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #R1448 (G1)
Quality Score147
Status Not validated
Chromosome5
Chromosomal Location148871584-148929320 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 148904676 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 126 (D126G)
Ref Sequence ENSEMBL: ENSMUSP00000120707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047257] [ENSMUST00000110509] [ENSMUST00000147473] [ENSMUST00000149169]
Predicted Effect probably benign
Transcript: ENSMUST00000047257
AA Change: D126G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043210
Gene: ENSMUSG00000041298
AA Change: D126G

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 3e-19 PDB
low complexity region 100 111 N/A INTRINSIC
low complexity region 127 138 N/A INTRINSIC
AAA 238 380 3.01e-20 SMART
Pfam:Vps4_C 437 486 2.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110508
Predicted Effect probably benign
Transcript: ENSMUST00000110509
AA Change: D126G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106136
Gene: ENSMUSG00000041298
AA Change: D126G

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 3e-20 PDB
low complexity region 100 111 N/A INTRINSIC
low complexity region 127 138 N/A INTRINSIC
Blast:AAA 159 229 8e-7 BLAST
PDB:4L16|A 184 234 3e-8 PDB
SCOP:d1iqpa2 185 234 4e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147473
AA Change: D126G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120502
Gene: ENSMUSG00000106892
AA Change: D126G

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 1e-20 PDB
low complexity region 100 111 N/A INTRINSIC
low complexity region 127 138 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149169
AA Change: D126G

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120707
Gene: ENSMUSG00000041298
AA Change: D126G

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 2e-21 PDB
low complexity region 100 111 N/A INTRINSIC
low complexity region 127 138 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU induced mutation display male infertility with decreased testis weight and premature exfoliation of spermatids from the seminiferous epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417H12Rik T A 7: 107,624,745 probably benign Het
A1cf A T 19: 31,908,796 N35I possibly damaging Het
Abca2 T C 2: 25,440,530 I1106T possibly damaging Het
Abca4 G A 3: 122,162,928 probably null Het
Adgrv1 T C 13: 81,433,513 D4804G probably benign Het
Adk T A 14: 21,052,640 M1K probably null Het
Aff3 T C 1: 38,191,283 N1006D probably damaging Het
Akap12 A G 10: 4,355,475 T762A probably benign Het
Atp12a T A 14: 56,385,839 M843K probably damaging Het
Bbx T A 16: 50,266,270 K169* probably null Het
Bicra A T 7: 15,988,359 V411E possibly damaging Het
Camk1d A T 2: 5,362,025 Y126* probably null Het
Cel T C 2: 28,556,326 Y511C probably damaging Het
Celf4 G T 18: 25,503,083 probably null Het
Clasp1 A G 1: 118,508,916 N310S probably benign Het
Col6a3 T C 1: 90,781,855 K1873R unknown Het
Cstf1 A G 2: 172,375,875 D136G probably damaging Het
Cwc22 T A 2: 77,911,555 E470D probably damaging Het
Cxcr2 A T 1: 74,158,368 D7V probably benign Het
Cytip A G 2: 58,145,180 I168T probably damaging Het
D5Ertd579e A G 5: 36,602,739 L1359P probably benign Het
Ddx25 A C 9: 35,557,738 V26G probably benign Het
Dennd4a T A 9: 64,906,045 S1429T possibly damaging Het
Dmd A G X: 84,848,700 D2990G probably damaging Het
Dopey1 C A 9: 86,542,732 probably null Het
Eps8 T C 6: 137,522,854 Q209R possibly damaging Het
Fabp6 T A 11: 43,596,165 I112F probably benign Het
Fam159b T C 13: 104,845,962 I151V probably benign Het
Fam214a C G 9: 75,010,174 S685* probably null Het
Fbxw10 T C 11: 62,847,592 V104A possibly damaging Het
Gp1ba C T 11: 70,641,427 P673L probably damaging Het
Grin3a T C 4: 49,702,804 Y894C probably damaging Het
Hydin C T 8: 110,446,585 H967Y probably benign Het
Ip6k3 T C 17: 27,145,268 K269E possibly damaging Het
Jup T C 11: 100,383,200 K172E probably damaging Het
Knl1 A T 2: 119,068,307 K163M probably damaging Het
Krt17 C T 11: 100,257,539 E359K possibly damaging Het
Lct T A 1: 128,307,822 I483F probably damaging Het
Loxl2 G A 14: 69,693,040 G751D probably damaging Het
Ltbp4 G A 7: 27,306,577 R1559C possibly damaging Het
Man2c1 T A 9: 57,135,219 D183E probably benign Het
Med17 T C 9: 15,275,843 probably null Het
Mrgpra9 A C 7: 47,235,813 S34R probably benign Het
Mrpl44 T A 1: 79,777,960 N94K probably damaging Het
Nat8f1 A G 6: 85,910,942 V12A probably benign Het
Nr2e3 C A 9: 59,943,514 G354V probably damaging Het
Nrbp1 T A 5: 31,245,813 I210N probably damaging Het
Nup155 T C 15: 8,112,406 V94A probably benign Het
Olfr1497 A T 19: 13,794,776 Y278* probably null Het
Olfr294 A T 7: 86,616,361 C95S probably damaging Het
Olfr502 T C 7: 108,523,318 I211V probably benign Het
Olfr649 C T 7: 104,189,875 V111I possibly damaging Het
Pcdhb10 A T 18: 37,412,503 I211F possibly damaging Het
Phip A C 9: 82,915,423 I509S possibly damaging Het
Pkhd1 C T 1: 20,585,157 probably null Het
Psme4 T G 11: 30,852,744 L1487R probably damaging Het
Ptgdr2 A G 19: 10,940,493 S125G probably damaging Het
Ptpro A G 6: 137,441,116 K126E probably damaging Het
Rdh16f2 T A 10: 127,876,925 V264E probably benign Het
Ric8b C T 10: 84,947,671 A131V possibly damaging Het
Rock1 A T 18: 10,070,233 I1280N probably damaging Het
Rprd2 A G 3: 95,818,576 V59A possibly damaging Het
Ruvbl1 T A 6: 88,467,569 C49S probably benign Het
Scn2a A G 2: 65,683,845 N291S probably benign Het
Serbp1 T A 6: 67,277,920 H325Q probably damaging Het
Shf G A 2: 122,368,682 P51S probably damaging Het
Slitrk3 G A 3: 73,050,341 T366I probably damaging Het
Spryd3 A T 15: 102,118,392 H307Q possibly damaging Het
Spx A T 6: 142,418,513 D100V probably benign Het
Surf4 A G 2: 26,924,464 F142L probably damaging Het
Syne2 T A 12: 76,020,325 probably null Het
Syne2 T C 12: 76,052,178 M5278T possibly damaging Het
Thap12 T C 7: 98,716,023 V466A probably benign Het
Thap3 T C 4: 151,983,216 K135R possibly damaging Het
Tmem131 G T 1: 36,827,358 D448E probably benign Het
Tmem63b C G 17: 45,678,978 R88P possibly damaging Het
Trim43a G T 9: 88,582,093 C19F probably damaging Het
Trp63 C T 16: 25,889,120 P526L possibly damaging Het
Ubqln3 T C 7: 104,142,790 D31G probably damaging Het
Utp14b C A 1: 78,665,445 N353K probably damaging Het
Vmn1r40 A G 6: 89,714,576 K125R probably damaging Het
Vmn2r1 A G 3: 64,101,313 Y471C probably damaging Het
Vmn2r13 A G 5: 109,174,135 I232T probably damaging Het
Zfp263 A C 16: 3,746,459 E204D probably benign Het
Zfp865 A T 7: 5,029,279 K88* probably null Het
Other mutations in Katnal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Katnal1 APN 5 148893797 splice site probably benign
IGL02369:Katnal1 APN 5 148878927 missense probably benign 0.04
R0001:Katnal1 UTSW 5 148921275 missense probably damaging 0.98
R0230:Katnal1 UTSW 5 148918650 missense possibly damaging 0.60
R0308:Katnal1 UTSW 5 148878924 missense possibly damaging 0.95
R0591:Katnal1 UTSW 5 148892516 missense probably damaging 1.00
R1220:Katnal1 UTSW 5 148894251 missense probably benign 0.00
R2163:Katnal1 UTSW 5 148888936 missense probably damaging 1.00
R4791:Katnal1 UTSW 5 148904650 missense probably damaging 1.00
R5168:Katnal1 UTSW 5 148921322 missense possibly damaging 0.91
R6182:Katnal1 UTSW 5 148904597 missense possibly damaging 0.83
R6542:Katnal1 UTSW 5 148876206 missense probably benign 0.01
R6836:Katnal1 UTSW 5 148894164 missense probably damaging 1.00
R7077:Katnal1 UTSW 5 148891737 missense probably benign 0.00
R7490:Katnal1 UTSW 5 148891682 missense probably null 0.00
Predicted Primers PCR Primer
(F):5'- CCAAAGCTCCACTGCGAGTGAATG -3'
(R):5'- CTCTACGGCAGGGGAAATTGTGAC -3'

Sequencing Primer
(F):5'- GAATGAATCAGAGCCTTGCCTTG -3'
(R):5'- cctggctgtcctggaac -3'
Posted On2014-03-14