Incidental Mutation 'IGL02152:L3hypdh'
ID 282097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L3hypdh
Ensembl Gene ENSMUSG00000019718
Gene Name L-3-hydroxyproline dehydratase (trans-)
Synonyms 2810055F11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02152
Quality Score
Status
Chromosome 12
Chromosomal Location 72120202-72132213 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 72123917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000019862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019862]
AlphaFold Q9CXA2
Predicted Effect probably null
Transcript: ENSMUST00000019862
SMART Domains Protein: ENSMUSP00000019862
Gene: ENSMUSG00000019718

DomainStartEndE-ValueType
Pfam:Pro_racemase 22 352 8.7e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138029
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,695,983 (GRCm39) T140A probably benign Het
4933430I17Rik T C 4: 62,460,991 (GRCm39) Y289H possibly damaging Het
Adamts17 T A 7: 66,774,748 (GRCm39) S956T probably benign Het
Adamts6 A T 13: 104,450,168 (GRCm39) S290C probably null Het
Apaf1 A T 10: 90,897,681 (GRCm39) H267Q probably benign Het
Aplp2 G A 9: 31,122,947 (GRCm39) P26L unknown Het
Arid1b C T 17: 5,364,243 (GRCm39) S1019F probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Ass1 T C 2: 31,382,336 (GRCm39) I169T probably damaging Het
Ccser1 A G 6: 61,288,692 (GRCm39) D285G possibly damaging Het
Cenpf A G 1: 189,381,209 (GRCm39) V2737A probably benign Het
Chrm5 A G 2: 112,310,913 (GRCm39) Y68H probably damaging Het
Cops4 A G 5: 100,681,456 (GRCm39) T164A probably benign Het
Cox4i1 A G 8: 121,399,604 (GRCm39) S72G probably benign Het
Cpox A G 16: 58,494,787 (GRCm39) T275A possibly damaging Het
Cyb5a T C 18: 84,891,281 (GRCm39) I68T probably benign Het
Efna5 T C 17: 62,958,055 (GRCm39) D67G probably benign Het
Enpp3 T C 10: 24,649,900 (GRCm39) E842G probably damaging Het
Fam210b A G 2: 172,193,423 (GRCm39) K79E probably benign Het
Gm4799 T C 10: 82,790,589 (GRCm39) noncoding transcript Het
Gpr146 A T 5: 139,378,467 (GRCm39) R90W probably damaging Het
H2ac10 A G 13: 23,718,451 (GRCm39) H124R probably benign Het
Hal A G 10: 93,339,404 (GRCm39) I498V possibly damaging Het
Hnrnpm C T 17: 33,877,386 (GRCm39) G365R probably damaging Het
Jakmip3 A G 7: 138,627,217 (GRCm39) D407G probably damaging Het
Kank1 A G 19: 25,405,536 (GRCm39) I1185V possibly damaging Het
Kcnj16 A T 11: 110,916,036 (GRCm39) M233L probably benign Het
Klhl5 A T 5: 65,306,143 (GRCm39) Q370L probably damaging Het
Las1l A G X: 94,996,908 (GRCm39) V130A probably damaging Het
Liat1 A G 11: 75,894,051 (GRCm39) I143V probably benign Het
Lrp2bp A T 8: 46,476,081 (GRCm39) Y274F probably damaging Het
Morc2b T A 17: 33,356,917 (GRCm39) K285M probably damaging Het
Mpp3 A T 11: 101,916,216 (GRCm39) Y45* probably null Het
Muc4 T A 16: 32,598,023 (GRCm39) probably benign Het
Muc5ac T C 7: 141,353,914 (GRCm39) C837R possibly damaging Het
Nr2f6 T A 8: 71,828,810 (GRCm39) I155F probably damaging Het
Nsg1 A G 5: 38,302,145 (GRCm39) F50L probably benign Het
Or14a258 T A 7: 86,035,251 (GRCm39) M206L probably benign Het
Ostf1 C A 19: 18,567,822 (GRCm39) G101C probably damaging Het
Pam C T 1: 97,768,474 (GRCm39) R552Q probably damaging Het
Pkd1l3 A G 8: 110,395,924 (GRCm39) N2108S probably damaging Het
Prkdc A T 16: 15,487,149 (GRCm39) H484L probably benign Het
Pwwp3a A G 10: 80,075,812 (GRCm39) D466G probably damaging Het
Rfx5 G A 3: 94,864,493 (GRCm39) R213Q probably damaging Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Sall2 A G 14: 52,552,971 (GRCm39) S73P probably damaging Het
Sec22c G A 9: 121,513,845 (GRCm39) A264V probably benign Het
Sis A C 3: 72,796,319 (GRCm39) probably benign Het
Spam1 T A 6: 24,800,802 (GRCm39) probably benign Het
Spmip2 T C 3: 79,252,839 (GRCm39) I18T possibly damaging Het
St13 T A 15: 81,250,583 (GRCm39) I318F probably damaging Het
Syne1 T C 10: 5,374,382 (GRCm39) I142V probably damaging Het
Tasor2 C T 13: 3,635,371 (GRCm39) E479K probably benign Het
Trpm6 A T 19: 18,809,903 (GRCm39) T1100S possibly damaging Het
Ttll6 G A 11: 96,026,366 (GRCm39) W90* probably null Het
Txndc12 T A 4: 108,691,989 (GRCm39) C9* probably null Het
Ubr7 C T 12: 102,734,535 (GRCm39) Q270* probably null Het
Vps33b A G 7: 79,934,817 (GRCm39) S302G probably benign Het
Xylt1 T A 7: 117,233,997 (GRCm39) V508E probably damaging Het
Zbtb26 A T 2: 37,326,703 (GRCm39) L111Q possibly damaging Het
Zfp410 T C 12: 84,379,702 (GRCm39) probably benign Het
Zscan18 A T 7: 12,509,223 (GRCm39) probably benign Het
Other mutations in L3hypdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02718:L3hypdh APN 12 72,131,630 (GRCm39) missense probably damaging 1.00
R0128:L3hypdh UTSW 12 72,123,917 (GRCm39) critical splice donor site probably null
R1109:L3hypdh UTSW 12 72,120,770 (GRCm39) missense possibly damaging 0.93
R1689:L3hypdh UTSW 12 72,131,527 (GRCm39) missense probably damaging 1.00
R2080:L3hypdh UTSW 12 72,126,301 (GRCm39) missense probably damaging 0.96
R2274:L3hypdh UTSW 12 72,131,632 (GRCm39) missense possibly damaging 0.95
R4003:L3hypdh UTSW 12 72,131,890 (GRCm39) missense probably benign 0.00
R4358:L3hypdh UTSW 12 72,124,198 (GRCm39) missense probably damaging 1.00
R4760:L3hypdh UTSW 12 72,124,016 (GRCm39) missense probably benign 0.05
R4825:L3hypdh UTSW 12 72,124,167 (GRCm39) missense probably benign 0.00
R5926:L3hypdh UTSW 12 72,123,959 (GRCm39) missense probably damaging 1.00
R7223:L3hypdh UTSW 12 72,120,783 (GRCm39) missense possibly damaging 0.71
R7426:L3hypdh UTSW 12 72,131,705 (GRCm39) missense probably damaging 1.00
R8026:L3hypdh UTSW 12 72,131,723 (GRCm39) missense probably damaging 1.00
R9429:L3hypdh UTSW 12 72,124,203 (GRCm39) missense probably damaging 1.00
X0028:L3hypdh UTSW 12 72,126,268 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16