Incidental Mutation 'PIT4468001:Gm21976'
ID555659
Institutional Source Beutler Lab
Gene Symbol Gm21976
Ensembl Gene ENSMUSG00000096330
Gene Namepredicted gene 21976
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #PIT4468001 (G1)
Quality Score225.009
Status Not validated
Chromosome13
Chromosomal Location98279887-98307154 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 98307027 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 229 (R229*)
Ref Sequence ENSEMBL: ENSMUSP00000136875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022163] [ENSMUST00000134542] [ENSMUST00000152704] [ENSMUST00000180066] [ENSMUST00000180188] [ENSMUST00000186911]
Predicted Effect probably benign
Transcript: ENSMUST00000022163
SMART Domains Protein: ENSMUSP00000022163
Gene: ENSMUSG00000021660

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Pfam:NAC 83 139 6.2e-30 PFAM
low complexity region 182 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134542
SMART Domains Protein: ENSMUSP00000115500
Gene: ENSMUSG00000021660

DomainStartEndE-ValueType
Pfam:NAC 41 98 1.9e-26 PFAM
low complexity region 140 151 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152704
SMART Domains Protein: ENSMUSP00000118093
Gene: ENSMUSG00000021660

DomainStartEndE-ValueType
Pfam:NAC 41 98 1.9e-26 PFAM
low complexity region 140 151 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000180066
AA Change: R229*
Predicted Effect probably benign
Transcript: ENSMUST00000180188
Predicted Effect probably null
Transcript: ENSMUST00000186911
AA Change: R155*
SMART Domains Protein: ENSMUSP00000139945
Gene: ENSMUSG00000096330
AA Change: R155*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LDLa 52 91 1.4e-9 SMART
LDLa 98 136 3.4e-4 SMART
LDLa 141 175 9.2e-3 SMART
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.2%
  • 20x: 72.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik C T 14: 4,348,940 L34F probably damaging Het
Alms1 T C 6: 85,624,719 probably null Het
Arhgap15 C A 2: 44,243,131 Q350K probably damaging Het
Bbs1 T A 19: 4,906,162 H35L probably benign Het
Cep85 T C 4: 134,148,697 N468S probably damaging Het
Chd8 A C 14: 52,207,996 D1709E probably benign Het
Chd8 T C 14: 52,217,881 I1050V possibly damaging Het
Clec9a G A 6: 129,419,634 probably null Het
Cyp2c70 T A 19: 40,165,362 D261V probably damaging Het
Deup1 T C 9: 15,564,005 N420D possibly damaging Het
Dpys T A 15: 39,857,205 D53V probably damaging Het
Edem1 A G 6: 108,844,867 E295G probably damaging Het
Farp2 G T 1: 93,528,777 E61* probably null Het
Fat3 T G 9: 15,996,351 D2785A probably benign Het
Fbxo30 T A 10: 11,290,956 M474K possibly damaging Het
Gm13090 C A 4: 151,091,082 P93Q unknown Het
Gpr108 A T 17: 57,247,563 L25Q probably null Het
Hdac9 C A 12: 34,095,934 V920F unknown Het
Ighv13-2 T C 12: 114,357,973 S49G probably benign Het
Krt6a T C 15: 101,693,917 Y111C probably damaging Het
Mib1 T C 18: 10,798,463 S775P possibly damaging Het
Mki67 A G 7: 135,699,147 I1386T probably benign Het
Mroh2b A G 15: 4,912,812 E352G probably damaging Het
Nfya A G 17: 48,395,777 M61T unknown Het
Ntn4 A G 10: 93,644,725 T104A probably damaging Het
Numb G A 12: 83,808,147 T135I probably damaging Het
Olfr1030 A T 2: 85,984,448 T203S probably benign Het
Olfr1271 C A 2: 90,266,220 C70F probably benign Het
Olfr599 A C 7: 103,338,600 E182A probably damaging Het
Parpbp A C 10: 88,144,073 L7R probably benign Het
Pcdhb8 T C 18: 37,356,633 Y455H probably damaging Het
Pcdhga10 T A 18: 37,747,883 D232E probably damaging Het
Pcdhga9 T A 18: 37,739,474 C785* probably null Het
Pkd1l3 A G 8: 109,664,499 Y1913C possibly damaging Het
Pld4 T G 12: 112,767,822 L374R probably damaging Het
Ppp1r13b A T 12: 111,838,702 I350N probably benign Het
Rc3h2 C A 2: 37,399,639 G387V probably damaging Het
Rfwd3 T C 8: 111,282,720 H408R probably benign Het
Rpl3l A G 17: 24,735,483 T173A probably benign Het
Sdad1 T C 5: 92,291,918 D416G probably damaging Het
Srp72 C A 5: 76,994,206 T430K probably benign Het
Steap1 C A 5: 5,736,642 G265V probably damaging Het
Sulf2 A T 2: 166,080,800 I670N probably benign Het
Tcf7l2 A T 19: 55,742,388 D16V probably damaging Het
Tmem100 T A 11: 90,035,361 S5T probably benign Het
Tnc C A 4: 63,964,667 D1906Y probably damaging Het
Trak1 T C 9: 121,453,332 S436P probably benign Het
Ttyh1 T C 7: 4,119,772 Y40H possibly damaging Het
Ubxn8 T A 8: 33,621,541 S275C probably benign Het
Umodl1 A G 17: 30,959,278 Y76C probably damaging Het
Upk3b C T 5: 136,043,007 T222M probably benign Het
Usp42 T A 5: 143,714,644 K1208M probably damaging Het
Vmn2r25 A T 6: 123,839,598 D341E probably benign Het
Vmn2r83 T G 10: 79,478,050 L164R probably damaging Het
Vwa8 G T 14: 79,183,061 R1734L probably damaging Het
Zfand2b G T 1: 75,169,832 R117L probably benign Het
Other mutations in Gm21976
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Gm21976 APN 13 98302561 missense probably benign 0.15
IGL01921:Gm21976 APN 13 98305321 nonsense probably null
IGL02971:Gm21976 APN 13 98302549 missense probably null 0.35
R2969:Gm21976 UTSW 13 98287282 missense unknown
R4510:Gm21976 UTSW 13 98305331 missense probably benign 0.25
R4511:Gm21976 UTSW 13 98305331 missense probably benign 0.25
R4595:Gm21976 UTSW 13 98305810 missense probably damaging 0.98
R6126:Gm21976 UTSW 13 98287313 missense unknown
Predicted Primers PCR Primer
(F):5'- CTGCAGTTTTCCCATGAGATAGTTTC -3'
(R):5'- CTGGGGCACAGGTTCTTTAAC -3'

Sequencing Primer
(F):5'- TAAACCTGAAGGGCCAGT -3'
(R):5'- AACCCTTCCCTAGCCTACATC -3'
Posted On2019-06-07