Incidental Mutation 'R1170:Hhipl1'
ID 99329
Institutional Source Beutler Lab
Gene Symbol Hhipl1
Ensembl Gene ENSMUSG00000021260
Gene Name hedgehog interacting protein-like 1
Synonyms 1600002O04Rik
MMRRC Submission 039243-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1170 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 108272100-108294559 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 108277952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 93 (C93*)
Ref Sequence ENSEMBL: ENSMUSP00000021685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021685]
AlphaFold Q14DK5
Predicted Effect probably null
Transcript: ENSMUST00000021685
AA Change: C93*
SMART Domains Protein: ENSMUSP00000021685
Gene: ENSMUSG00000021260
AA Change: C93*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Folate_rec 28 189 2.4e-21 PFAM
Pfam:GSDH 199 532 3e-39 PFAM
low complexity region 619 670 N/A INTRINSIC
SR 682 785 2.01e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223395
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 100% (105/105)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A G 1: 151,856,163 (GRCm39) probably benign Het
Akap9 G A 5: 4,105,671 (GRCm39) S2914N probably benign Het
Alk T C 17: 72,207,729 (GRCm39) D1002G probably damaging Het
Ap3d1 A G 10: 80,568,674 (GRCm39) probably benign Het
Asb15 T C 6: 24,562,486 (GRCm39) probably benign Het
Asxl3 C A 18: 22,657,564 (GRCm39) P1858Q probably benign Het
Bltp1 T C 3: 37,098,780 (GRCm39) S1136P probably damaging Het
Bud31 T A 5: 145,079,388 (GRCm39) probably benign Het
C1qtnf1 G T 11: 118,339,095 (GRCm39) R255L probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cage1 C T 13: 38,206,856 (GRCm39) E330K probably damaging Het
Catsperz T A 19: 6,902,317 (GRCm39) N59I probably benign Het
Ccdc110 G T 8: 46,394,922 (GRCm39) S271I probably benign Het
Ccdc88b T A 19: 6,830,581 (GRCm39) E787V probably damaging Het
Ccna2 A T 3: 36,623,119 (GRCm39) probably benign Het
Cd36 T A 5: 18,018,086 (GRCm39) D209V probably damaging Het
Cers4 T A 8: 4,569,475 (GRCm39) W161R probably damaging Het
Ces2f T A 8: 105,680,178 (GRCm39) H442Q probably damaging Het
Chchd6 A C 6: 89,361,669 (GRCm39) C245G probably damaging Het
Cndp1 T G 18: 84,629,750 (GRCm39) Q481P probably benign Het
Col3a1 A G 1: 45,366,761 (GRCm39) R234G unknown Het
Col3a1 A T 1: 45,386,884 (GRCm39) N232I probably damaging Het
Colgalt2 A T 1: 152,378,768 (GRCm39) D398V probably damaging Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,495,941 (GRCm39) probably null Het
Dcdc2a C A 13: 25,240,290 (GRCm39) Q13K probably benign Het
Dzip3 A T 16: 48,781,571 (GRCm39) I240N probably damaging Het
Epb41l3 T A 17: 69,566,175 (GRCm39) L452* probably null Het
Fam193b C T 13: 55,689,518 (GRCm39) A753T probably damaging Het
Fam47e G C 5: 92,713,781 (GRCm39) probably benign Het
Fastkd1 A G 2: 69,538,993 (GRCm39) probably benign Het
Fmnl1 G A 11: 103,088,196 (GRCm39) G69D probably benign Het
Foxn2 A G 17: 88,781,094 (GRCm39) probably benign Het
Fsip2 A G 2: 82,821,844 (GRCm39) E5859G possibly damaging Het
Gm9894 T A 13: 67,912,820 (GRCm39) noncoding transcript Het
H2-T13 T C 17: 36,391,983 (GRCm39) N44S possibly damaging Het
Helz2 T C 2: 180,871,608 (GRCm39) Y2668C probably damaging Het
Lig1 C T 7: 13,026,079 (GRCm39) A278V probably benign Het
Lipn T A 19: 34,049,158 (GRCm39) I108K probably benign Het
Lsamp A G 16: 41,971,592 (GRCm39) probably benign Het
Map3k14 A G 11: 103,129,743 (GRCm39) probably benign Het
Mdm4 A T 1: 132,919,558 (GRCm39) C436S probably damaging Het
Mdm4 A G 1: 132,940,430 (GRCm39) L33P probably damaging Het
Meiob T C 17: 25,055,458 (GRCm39) W422R probably damaging Het
Mppe1 T C 18: 67,360,777 (GRCm39) Y254C probably damaging Het
Mterf1a A T 5: 3,940,964 (GRCm39) N301K probably benign Het
Muc6 C T 7: 141,230,500 (GRCm39) S1210N probably damaging Het
Mycbp2 A T 14: 103,437,588 (GRCm39) Y2091* probably null Het
Mylk G A 16: 34,694,409 (GRCm39) R156H probably benign Het
Myo15a G T 11: 60,370,233 (GRCm39) D998Y probably benign Het
Neb A T 2: 52,086,369 (GRCm39) Y5235N probably damaging Het
Nop58 A G 1: 59,743,370 (GRCm39) probably benign Het
Nr4a3 A G 4: 48,083,324 (GRCm39) K619R probably benign Het
Nr4a3 A G 4: 48,051,564 (GRCm39) H135R probably damaging Het
Nrg1 T C 8: 32,327,695 (GRCm39) probably benign Het
Odr4 T A 1: 150,262,142 (GRCm39) E99D probably benign Het
Or4f59 A T 2: 111,872,560 (GRCm39) D272E probably benign Het
Or5b122 T C 19: 13,563,577 (GRCm39) V260A probably benign Het
Or5m8 A T 2: 85,823,040 (GRCm39) N293I probably damaging Het
Or8g24 T A 9: 38,989,525 (GRCm39) D172V possibly damaging Het
Parp3 T C 9: 106,353,204 (GRCm39) probably benign Het
Pde2a A G 7: 101,133,750 (GRCm39) E103G probably benign Het
Pds5a A T 5: 65,792,645 (GRCm39) probably benign Het
Pip4k2c A G 10: 127,047,262 (GRCm39) V40A unknown Het
Pitrm1 T C 13: 6,602,780 (GRCm39) probably benign Het
Plk4 A G 3: 40,756,282 (GRCm39) I64M probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp2r1a T C 17: 21,171,593 (GRCm39) probably benign Het
Ppp4r3b T A 11: 29,159,426 (GRCm39) N172K probably damaging Het
Prkcg G A 7: 3,368,177 (GRCm39) R357Q probably damaging Het
Prmt3 T C 7: 49,498,295 (GRCm39) probably null Het
Prx T A 7: 27,217,432 (GRCm39) C644* probably null Het
Ptpru A G 4: 131,535,838 (GRCm39) probably benign Het
Rbm5 A T 9: 107,619,696 (GRCm39) D738E probably damaging Het
Recql5 A T 11: 115,788,060 (GRCm39) Y420N probably damaging Het
Rnf17 T C 14: 56,663,088 (GRCm39) I152T probably benign Het
Rnpepl1 A G 1: 92,846,917 (GRCm39) S580G possibly damaging Het
Ryr3 C T 2: 112,777,332 (GRCm39) G275D probably damaging Het
Serpinb9e T A 13: 33,441,735 (GRCm39) Y222* probably null Het
Shld2 A T 14: 33,990,448 (GRCm39) S153T possibly damaging Het
Slc10a1 T A 12: 81,002,802 (GRCm39) I279F probably damaging Het
Slc12a8 G T 16: 33,483,347 (GRCm39) G584V probably damaging Het
Slc35b3 T A 13: 39,121,307 (GRCm39) Y311F probably benign Het
Slc44a5 A G 3: 153,963,357 (GRCm39) probably null Het
Slc6a9 A G 4: 117,722,003 (GRCm39) E422G possibly damaging Het
Smpd2 A G 10: 41,364,728 (GRCm39) probably null Het
Spast A G 17: 74,688,963 (GRCm39) probably null Het
Spink5 A T 18: 44,116,630 (GRCm39) E208V probably benign Het
Stag1 T C 9: 100,770,506 (GRCm39) probably benign Het
Stambp A G 6: 83,540,803 (GRCm39) probably null Het
Sult3a2 A T 10: 33,653,188 (GRCm39) M184K possibly damaging Het
Tcp11 T C 17: 28,290,636 (GRCm39) D162G probably damaging Het
Themis A C 10: 28,544,744 (GRCm39) E30A possibly damaging Het
Tmc7 G A 7: 118,150,483 (GRCm39) S350L probably benign Het
Tmem131 A T 1: 36,873,979 (GRCm39) Y271* probably null Het
Trim35 T A 14: 66,546,248 (GRCm39) S338R probably benign Het
Trim42 C A 9: 97,245,673 (GRCm39) V376F probably benign Het
Tshr A T 12: 91,504,871 (GRCm39) K11M probably damaging Het
Vps8 A G 16: 21,278,570 (GRCm39) probably benign Het
Wdr11 T C 7: 129,208,831 (GRCm39) probably benign Het
Wdr26 A T 1: 181,008,859 (GRCm39) probably benign Het
Wdtc1 A G 4: 133,024,857 (GRCm39) Y447H probably damaging Het
Zfp687 C T 3: 94,915,784 (GRCm39) C996Y probably damaging Het
Zfp984 A T 4: 147,840,446 (GRCm39) V135E probably benign Het
Zranb2 T C 3: 157,247,502 (GRCm39) probably benign Het
Other mutations in Hhipl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
lemon_drops UTSW 12 108,278,203 (GRCm39) missense probably damaging 1.00
R1474_Hhipl1_947 UTSW 12 108,277,996 (GRCm39) missense probably damaging 1.00
Rock_candy UTSW 12 108,277,948 (GRCm39) missense probably damaging 1.00
R0091:Hhipl1 UTSW 12 108,288,156 (GRCm39) splice site probably benign
R0180:Hhipl1 UTSW 12 108,294,329 (GRCm39) missense probably damaging 1.00
R0610:Hhipl1 UTSW 12 108,285,661 (GRCm39) nonsense probably null
R0962:Hhipl1 UTSW 12 108,293,980 (GRCm39) missense probably benign 0.02
R1474:Hhipl1 UTSW 12 108,277,996 (GRCm39) missense probably damaging 1.00
R1878:Hhipl1 UTSW 12 108,286,319 (GRCm39) missense possibly damaging 0.93
R2001:Hhipl1 UTSW 12 108,288,118 (GRCm39) missense possibly damaging 0.90
R2103:Hhipl1 UTSW 12 108,293,977 (GRCm39) missense probably benign 0.04
R2132:Hhipl1 UTSW 12 108,277,949 (GRCm39) missense probably damaging 1.00
R2342:Hhipl1 UTSW 12 108,284,721 (GRCm39) missense probably damaging 1.00
R2408:Hhipl1 UTSW 12 108,284,806 (GRCm39) missense probably benign 0.05
R3431:Hhipl1 UTSW 12 108,277,948 (GRCm39) missense probably damaging 1.00
R3432:Hhipl1 UTSW 12 108,277,948 (GRCm39) missense probably damaging 1.00
R3741:Hhipl1 UTSW 12 108,284,976 (GRCm39) missense probably damaging 1.00
R3802:Hhipl1 UTSW 12 108,278,566 (GRCm39) missense probably benign
R4744:Hhipl1 UTSW 12 108,286,238 (GRCm39) missense possibly damaging 0.95
R4760:Hhipl1 UTSW 12 108,286,336 (GRCm39) missense probably damaging 0.99
R4927:Hhipl1 UTSW 12 108,278,203 (GRCm39) missense probably damaging 1.00
R5206:Hhipl1 UTSW 12 108,278,437 (GRCm39) missense probably damaging 1.00
R5244:Hhipl1 UTSW 12 108,278,393 (GRCm39) missense probably damaging 0.99
R5292:Hhipl1 UTSW 12 108,294,037 (GRCm39) missense probably benign
R5445:Hhipl1 UTSW 12 108,294,467 (GRCm39) missense probably damaging 0.97
R6248:Hhipl1 UTSW 12 108,284,964 (GRCm39) missense probably benign 0.01
R9395:Hhipl1 UTSW 12 108,285,009 (GRCm39) missense probably damaging 1.00
R9451:Hhipl1 UTSW 12 108,294,100 (GRCm39) missense probably benign 0.02
Predicted Primers
Posted On 2014-01-15