Incidental Mutation 'IGL01150:Hrg'
ID52979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hrg
Ensembl Gene ENSMUSG00000022877
Gene Namehistidine-rich glycoprotein
SynonymsD18020, D16JH2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.425) question?
Stock #IGL01150
Quality Score
Status
Chromosome16
Chromosomal Location22951072-22961656 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to G at 22959159 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023590] [ENSMUST00000023590] [ENSMUST00000023590] [ENSMUST00000232422]
Predicted Effect probably null
Transcript: ENSMUST00000023590
SMART Domains Protein: ENSMUSP00000023590
Gene: ENSMUSG00000022877

DomainStartEndE-ValueType
CY 22 133 8.98e-4 SMART
CY 146 251 1.3e-2 SMART
low complexity region 347 417 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000023590
SMART Domains Protein: ENSMUSP00000023590
Gene: ENSMUSG00000022877

DomainStartEndE-ValueType
CY 22 133 8.98e-4 SMART
CY 146 251 1.3e-2 SMART
low complexity region 347 417 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000023590
SMART Domains Protein: ENSMUSP00000023590
Gene: ENSMUSG00000022877

DomainStartEndE-ValueType
CY 22 133 8.98e-4 SMART
CY 146 251 1.3e-2 SMART
low complexity region 347 417 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000232422
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display mild monocytosis, decreased bleeding time, faster clot lysis, and abnormal blood coagulation; however, wound healing is normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,702,550 D507G possibly damaging Het
Actl6a A G 3: 32,712,164 I60V probably benign Het
Adra2c T C 5: 35,281,141 F419S probably damaging Het
Afap1l2 T C 19: 56,930,186 Y105C probably damaging Het
Arid4b C T 13: 14,195,374 Q1152* probably null Het
Arsj A G 3: 126,438,784 D393G probably benign Het
Avp T C 2: 130,580,673 probably benign Het
Cacna2d3 C T 14: 29,183,641 V390I possibly damaging Het
Ccdc25 T A 14: 65,860,202 M195K possibly damaging Het
Cdhr2 T A 13: 54,731,118 S979T probably benign Het
Cog2 T C 8: 124,542,891 F390S possibly damaging Het
Dennd5b A G 6: 149,068,085 V290A probably benign Het
Ebf1 T C 11: 44,869,100 L188P probably damaging Het
Fam129a T C 1: 151,717,721 V719A probably benign Het
Galt T C 4: 41,757,786 probably benign Het
Gm12830 C T 4: 114,845,064 T141I unknown Het
Herc2 T A 7: 56,181,133 W2965R probably damaging Het
Ighv8-5 T C 12: 115,067,574 Y115C probably damaging Het
Igkv12-89 A G 6: 68,835,143 V14A probably benign Het
Nav2 A C 7: 49,452,521 T295P probably benign Het
Nrg1 G A 8: 31,917,875 T110I probably damaging Het
Olfr1183 T C 2: 88,462,075 V264A possibly damaging Het
Olfr555 A C 7: 102,659,492 K224Q probably benign Het
Olfr847 A T 9: 19,375,239 I214N probably damaging Het
Pclo T C 5: 14,676,912 probably benign Het
Polg2 T C 11: 106,777,432 probably null Het
Ptges G T 2: 30,892,708 R111S probably damaging Het
Rbbp4 T C 4: 129,322,875 probably benign Het
Rundc3a T C 11: 102,393,776 V34A probably benign Het
Scn3a C A 2: 65,497,365 probably null Het
Sec14l3 T C 11: 4,076,238 probably benign Het
Strip1 C T 3: 107,626,731 probably null Het
Svep1 T A 4: 58,070,302 I2495F probably benign Het
Syne1 A G 10: 5,443,154 S71P probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem161b C T 13: 84,292,407 R133* probably null Het
Tnnc2 A T 2: 164,777,833 I71N probably damaging Het
Vps13d T C 4: 145,149,275 N1554S probably benign Het
Wfdc3 A T 2: 164,732,203 probably benign Het
Zfp648 A T 1: 154,205,364 H423L probably damaging Het
Other mutations in Hrg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02795:Hrg APN 16 22957553 unclassified probably benign
R0042:Hrg UTSW 16 22961136 unclassified probably benign
R0184:Hrg UTSW 16 22953771 critical splice donor site probably null
R1147:Hrg UTSW 16 22961004 missense probably damaging 0.99
R1147:Hrg UTSW 16 22961004 missense probably damaging 0.99
R1733:Hrg UTSW 16 22951247 missense probably damaging 1.00
R1828:Hrg UTSW 16 22956103 missense probably damaging 1.00
R1919:Hrg UTSW 16 22954457 missense probably damaging 1.00
R2104:Hrg UTSW 16 22956199 missense probably benign 0.09
R2281:Hrg UTSW 16 22961309 unclassified probably benign
R2447:Hrg UTSW 16 22961148 unclassified probably benign
R3962:Hrg UTSW 16 22956075 missense possibly damaging 0.85
R3963:Hrg UTSW 16 22956075 missense possibly damaging 0.85
R4571:Hrg UTSW 16 22961222 unclassified probably benign
R4903:Hrg UTSW 16 22961151 unclassified probably benign
R4904:Hrg UTSW 16 22951250 missense probably benign 0.03
R5236:Hrg UTSW 16 22961513 unclassified probably benign
R6020:Hrg UTSW 16 22954518 missense probably damaging 1.00
R6054:Hrg UTSW 16 22953662 missense probably benign 0.05
R6207:Hrg UTSW 16 22954538 critical splice donor site probably null
R6374:Hrg UTSW 16 22960992 missense probably damaging 0.98
R7516:Hrg UTSW 16 22961298 missense unknown
R7606:Hrg UTSW 16 22951123 start codon destroyed probably null 0.01
R8190:Hrg UTSW 16 22961043 missense unknown
R8349:Hrg UTSW 16 22961536 missense unknown
R8449:Hrg UTSW 16 22961536 missense unknown
Z1177:Hrg UTSW 16 22953712 missense probably damaging 1.00
Posted On2013-06-21