Incidental Mutation 'R3431:Hhipl1'
ID 268126
Institutional Source Beutler Lab
Gene Symbol Hhipl1
Ensembl Gene ENSMUSG00000021260
Gene Name hedgehog interacting protein-like 1
Synonyms 1600002O04Rik
MMRRC Submission 040649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3431 (G1)
Quality Score 219
Status Validated
Chromosome 12
Chromosomal Location 108272100-108294559 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108277948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 92 (E92G)
Ref Sequence ENSEMBL: ENSMUSP00000021685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021685]
AlphaFold Q14DK5
Predicted Effect probably damaging
Transcript: ENSMUST00000021685
AA Change: E92G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021685
Gene: ENSMUSG00000021260
AA Change: E92G

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 0.4125 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (41/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,746,560 (GRCm39) H140R possibly damaging Het
Adamts3 A G 5: 89,855,312 (GRCm39) probably benign Het
Apob T G 12: 8,060,778 (GRCm39) F3054V probably damaging Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Calcb A T 7: 114,319,064 (GRCm39) R30W probably damaging Het
Cbl T C 9: 44,062,743 (GRCm39) *914W probably null Het
Chd4 A G 6: 125,097,523 (GRCm39) probably benign Het
Clec4a2 A T 6: 123,116,370 (GRCm39) probably null Het
Crb2 T A 2: 37,682,229 (GRCm39) V870E probably benign Het
Cyp2c39 A G 19: 39,525,306 (GRCm39) E203G probably damaging Het
Dhrs7 A T 12: 72,711,501 (GRCm39) L12Q probably damaging Het
Dnah5 A G 15: 28,295,413 (GRCm39) Y1382C probably benign Het
Efs C T 14: 55,157,681 (GRCm39) R117Q probably damaging Het
Evl T C 12: 108,614,567 (GRCm39) probably benign Het
Fbxo16 T C 14: 65,531,233 (GRCm39) F46L probably damaging Het
Fsip2 A G 2: 82,822,354 (GRCm39) E6029G possibly damaging Het
Gm20775 A T Y: 10,641,956 (GRCm39) noncoding transcript Het
Gm4924 T A 10: 82,214,864 (GRCm39) Y887* probably null Het
H60c G T 10: 3,210,382 (GRCm39) R56S possibly damaging Het
Hbq1a T G 11: 32,250,715 (GRCm39) S133A probably benign Het
Knl1 A T 2: 118,892,843 (GRCm39) E46D probably damaging Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mmp21 T C 7: 133,280,479 (GRCm39) T164A probably benign Het
Mthfd2 T C 6: 83,288,330 (GRCm39) R142G probably benign Het
Mup4 T G 4: 59,959,192 (GRCm39) probably null Het
Npas3 A T 12: 54,115,832 (GRCm39) Q900L probably damaging Het
Nr1h3 T C 2: 91,022,205 (GRCm39) D141G probably damaging Het
Rap2a G T 14: 120,741,170 (GRCm39) A158S possibly damaging Het
Rttn A G 18: 89,113,695 (GRCm39) T1705A probably benign Het
Ryr3 A T 2: 112,486,876 (GRCm39) V3834E probably damaging Het
Taf5 A C 19: 47,064,272 (GRCm39) K405T probably damaging Het
Tbc1d19 T C 5: 54,005,548 (GRCm39) probably benign Het
Tmem232 A T 17: 65,572,297 (GRCm39) probably null Het
Tssk4 A G 14: 55,889,152 (GRCm39) N226S probably damaging Het
Tulp4 C A 17: 6,257,239 (GRCm39) S311R probably benign Het
Uggt1 C A 1: 36,249,140 (GRCm39) E267* probably null Het
Usp34 T C 11: 23,320,466 (GRCm39) I917T possibly damaging 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
R1170:Hhipl1 UTSW 12 108,277,952 (GRCm39) nonsense probably null
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
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 PCR Primer
(F):5'- ATAGTGAAGGTTCATGGTCAGTTTC -3'
(R):5'- AGTCGGTGTCATCTAGCGAC -3'

Sequencing Primer
(F):5'- TCATGGTCAGTTTCTTGGGC -3'
(R):5'- TGTCATCTAGCGACAGGTAGC -3'
Posted On 2015-02-18