Incidental Mutation 'IGL02152:L3hypdh'
ID282097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L3hypdh
Ensembl Gene ENSMUSG00000019718
Gene NameL-3-hydroxyproline dehydratase (trans-)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02152
Quality Score
Status
Chromosome12
Chromosomal Location72073428-72085439 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 72077143 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000019862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019862]
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
1700016K19Rik A G 11: 76,003,225 I143V probably benign Het
1700028K03Rik A G 5: 107,548,117 T140A probably benign Het
4933430I17Rik T C 4: 62,542,754 Y289H possibly damaging Het
Adamts17 T A 7: 67,125,000 S956T probably benign Het
Adamts6 A T 13: 104,313,660 S290C probably null Het
Apaf1 A T 10: 91,061,819 H267Q probably benign Het
Aplp2 G A 9: 31,211,651 P26L unknown Het
Arid1b C T 17: 5,313,968 S1019F probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Ass1 T C 2: 31,492,324 I169T probably damaging Het
Ccser1 A G 6: 61,311,708 D285G possibly damaging Het
Cenpf A G 1: 189,649,012 V2737A probably benign Het
Chrm5 A G 2: 112,480,568 Y68H probably damaging Het
Cops4 A G 5: 100,533,590 T164A probably benign Het
Cox4i1 A G 8: 120,672,865 S72G probably benign Het
Cpox A G 16: 58,674,424 T275A possibly damaging Het
Cyb5a T C 18: 84,873,156 I68T probably benign Het
Efna5 T C 17: 62,651,060 D67G probably benign Het
Enpp3 T C 10: 24,774,002 E842G probably damaging Het
Fam208b C T 13: 3,585,371 E479K probably benign Het
Fam210b A G 2: 172,351,503 K79E probably benign Het
Gm17359 T C 3: 79,345,532 I18T possibly damaging Het
Gm4799 T C 10: 82,954,755 noncoding transcript Het
Gpr146 A T 5: 139,392,712 R90W probably damaging Het
Hal A G 10: 93,503,542 I498V possibly damaging Het
Hist1h2af A G 13: 23,534,281 H124R probably benign Het
Hnrnpm C T 17: 33,658,412 G365R probably damaging Het
Jakmip3 A G 7: 139,025,488 D407G probably damaging Het
Kank1 A G 19: 25,428,172 I1185V possibly damaging Het
Kcnj16 A T 11: 111,025,210 M233L probably benign Het
Klhl5 A T 5: 65,148,800 Q370L probably damaging Het
Las1l A G X: 95,953,302 V130A probably damaging Het
Lrp2bp A T 8: 46,023,044 Y274F probably damaging Het
Morc2b T A 17: 33,137,943 K285M probably damaging Het
Mpp3 A T 11: 102,025,390 Y45* probably null Het
Muc4 T A 16: 32,777,649 probably benign Het
Muc5ac T C 7: 141,800,177 C837R possibly damaging Het
Mum1 A G 10: 80,239,978 D466G probably damaging Het
Nr2f6 T A 8: 71,376,166 I155F probably damaging Het
Nsg1 A G 5: 38,144,801 F50L probably benign Het
Olfr304 T A 7: 86,386,043 M206L probably benign Het
Ostf1 C A 19: 18,590,458 G101C probably damaging Het
Pam C T 1: 97,840,749 R552Q probably damaging Het
Pkd1l3 A G 8: 109,669,292 N2108S probably damaging Het
Prkdc A T 16: 15,669,285 H484L probably benign Het
Rfx5 G A 3: 94,957,182 R213Q probably damaging Het
Ryr1 T C 7: 29,052,015 S3715G possibly damaging Het
Sall2 A G 14: 52,315,514 S73P probably damaging Het
Sec22c G A 9: 121,684,779 A264V probably benign Het
Sis A C 3: 72,888,986 probably benign Het
Spam1 T A 6: 24,800,803 probably benign Het
St13 T A 15: 81,366,382 I318F probably damaging Het
Syne1 T C 10: 5,424,382 I142V probably damaging Het
Trpm6 A T 19: 18,832,539 T1100S possibly damaging Het
Ttll6 G A 11: 96,135,540 W90* probably null Het
Txndc12 T A 4: 108,834,792 C9* probably null Het
Ubr7 C T 12: 102,768,276 Q270* probably null Het
Vps33b A G 7: 80,285,069 S302G probably benign Het
Xylt1 T A 7: 117,634,770 V508E probably damaging Het
Zbtb26 A T 2: 37,436,691 L111Q possibly damaging Het
Zfp410 T C 12: 84,332,928 probably benign Het
Zscan18 A T 7: 12,775,296 probably benign Het
Other mutations in L3hypdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02718:L3hypdh APN 12 72084856 missense probably damaging 1.00
R0128:L3hypdh UTSW 12 72077143 critical splice donor site probably null
R1109:L3hypdh UTSW 12 72073996 missense possibly damaging 0.93
R1689:L3hypdh UTSW 12 72084753 missense probably damaging 1.00
R2080:L3hypdh UTSW 12 72079527 missense probably damaging 0.96
R2274:L3hypdh UTSW 12 72084858 missense possibly damaging 0.95
R4003:L3hypdh UTSW 12 72085116 missense probably benign 0.00
R4358:L3hypdh UTSW 12 72077424 missense probably damaging 1.00
R4760:L3hypdh UTSW 12 72077242 missense probably benign 0.05
R4825:L3hypdh UTSW 12 72077393 missense probably benign 0.00
R5926:L3hypdh UTSW 12 72077185 missense probably damaging 1.00
R7223:L3hypdh UTSW 12 72074009 missense possibly damaging 0.71
R7426:L3hypdh UTSW 12 72084931 missense probably damaging 1.00
X0028:L3hypdh UTSW 12 72079494 missense probably benign 0.01
Posted On2015-04-16