Incidental Mutation 'IGL00094:Itih4'
ID 985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itih4
Ensembl Gene ENSMUSG00000021922
Gene Name inter alpha-trypsin inhibitor, heavy chain 4
Synonyms Itih-4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00094
Quality Score
Status
Chromosome 14
Chromosomal Location 30608433-30623943 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30617426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 582 (Y582F)
Ref Sequence ENSEMBL: ENSMUSP00000006703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006703] [ENSMUST00000078490] [ENSMUST00000120269] [ENSMUST00000168782]
AlphaFold A6X935
Predicted Effect probably damaging
Transcript: ENSMUST00000006703
AA Change: Y582F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: Y582F

DomainStartEndE-ValueType
VIT 19 148 3.22e-80 SMART
VWA 272 456 5.97e-30 SMART
coiled coil region 552 584 N/A INTRINSIC
low complexity region 662 690 N/A INTRINSIC
Pfam:ITI_HC_C 781 941 2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078490
AA Change: Y582F

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: Y582F

DomainStartEndE-ValueType
VIT 19 148 3.22e-80 SMART
VWA 272 456 5.97e-30 SMART
coiled coil region 552 584 N/A INTRINSIC
low complexity region 662 690 N/A INTRINSIC
Pfam:ITI_HC_C 777 941 2.2e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120269
AA Change: Y582F

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: Y582F

DomainStartEndE-ValueType
VIT 19 148 3.22e-80 SMART
VWA 272 456 5.97e-30 SMART
coiled coil region 552 584 N/A INTRINSIC
low complexity region 662 690 N/A INTRINSIC
Pfam:ITI_HC_C 738 902 6.5e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134988
Predicted Effect probably benign
Transcript: ENSMUST00000168782
AA Change: Y582F

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: Y582F

DomainStartEndE-ValueType
VIT 19 148 3.22e-80 SMART
VWA 272 456 5.97e-30 SMART
coiled coil region 552 584 N/A INTRINSIC
low complexity region 662 690 N/A INTRINSIC
Pfam:ITI_HC_C 761 925 2.2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227899
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the inter-alpha trypsin inhibitor (IaI) family of plasma serine protease inhibitors with diverse functions as anti-apoptotic and matrix stabilizing molecules during development. This gene is predominantly expressed in the liver and the encoded protein was found to be a plasma kallikrein-sensitive glycoprotein. This gene is located in a cluster of related inter alpha trypsin inhibitor genes on chromosome 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal. Surprisingly, IL-6/STAT3 signaling is significantly suppressed in mutant liver tissues but hepatocytes remain well differentiated. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,591,254 (GRCm39) N547K probably benign Het
Abca13 A G 11: 9,247,443 (GRCm39) T2397A probably benign Het
Abcc1 A G 16: 14,288,398 (GRCm39) N1341S probably null Het
Adcy9 T A 16: 4,122,446 (GRCm39) I535L probably benign Het
Akap6 A G 12: 53,187,763 (GRCm39) S1726G possibly damaging Het
Ap3d1 T C 10: 80,577,813 (GRCm39) M5V probably benign Het
Ash1l T A 3: 88,889,019 (GRCm39) N299K probably benign Het
B3gnt2 C T 11: 22,786,151 (GRCm39) V346I probably benign Het
Ceacam14 G A 7: 17,548,062 (GRCm39) V51I probably damaging Het
Cfap69 T C 5: 5,634,682 (GRCm39) D812G probably damaging Het
Cfap97d1 A G 11: 101,881,646 (GRCm39) E114G possibly damaging Het
Chrna9 T C 5: 66,126,600 (GRCm39) V118A probably benign Het
Cpsf7 A G 19: 10,517,151 (GRCm39) R418G probably damaging Het
Csnk1g3 T C 18: 54,052,075 (GRCm39) Y215H probably damaging Het
Dcaf5 A C 12: 80,386,097 (GRCm39) N676K probably benign Het
Dld A T 12: 31,385,576 (GRCm39) M255K probably benign Het
Esr2 A T 12: 76,180,670 (GRCm39) L417H probably damaging Het
Fsip2 T A 2: 82,820,730 (GRCm39) S5488T probably benign Het
Gatb A T 3: 85,509,227 (GRCm39) I130L possibly damaging Het
Gbp9 T C 5: 105,229,130 (GRCm39) K506E probably benign Het
Hkdc1 T C 10: 62,229,568 (GRCm39) N703S probably damaging Het
Itgb3 T A 11: 104,524,410 (GRCm39) V182E probably damaging Het
Lancl2 T A 6: 57,701,522 (GRCm39) probably benign Het
Lgals3 A G 14: 47,622,175 (GRCm39) K197R probably benign Het
Lipe T C 7: 25,082,977 (GRCm39) T767A probably damaging Het
Lrp2 T A 2: 69,338,123 (GRCm39) D1219V probably damaging Het
Lrriq3 T A 3: 154,806,698 (GRCm39) C116S probably benign Het
Mcm5 T G 8: 75,851,573 (GRCm39) probably null Het
Mtpn G T 6: 35,499,711 (GRCm39) T31K probably damaging Het
Mycbp2 A T 14: 103,460,486 (GRCm39) Y1494N probably damaging Het
Nbeal1 G T 1: 60,274,350 (GRCm39) E498* probably null Het
Nos1 T G 5: 118,048,165 (GRCm39) S657A probably damaging Het
Nr3c1 A T 18: 39,561,661 (GRCm39) probably null Het
Or12e7 T A 2: 87,288,271 (GRCm39) V254E probably damaging Het
Or13a17 A T 7: 140,271,349 (GRCm39) H177L probably damaging Het
Or4c127 T A 2: 89,833,365 (GRCm39) I205N possibly damaging Het
Or7g32 T A 9: 19,408,155 (GRCm39) I37N probably damaging Het
Or8g20 T C 9: 39,395,944 (GRCm39) I202V probably benign Het
Or8s8 T G 15: 98,354,299 (GRCm39) V36G possibly damaging Het
Or9i1 A T 19: 13,839,150 (GRCm39) probably benign Het
Osbp2 T G 11: 3,661,848 (GRCm39) S735R probably benign Het
Otop3 A T 11: 115,235,279 (GRCm39) T304S probably benign Het
Pcdhac2 A T 18: 37,278,128 (GRCm39) L369F probably damaging Het
Pick1 T C 15: 79,131,457 (GRCm39) probably benign Het
Prlhr A T 19: 60,456,119 (GRCm39) V149E probably damaging Het
Prss12 G A 3: 123,280,598 (GRCm39) probably benign Het
Rab19 A T 6: 39,365,132 (GRCm39) probably benign Het
Ralgapb T C 2: 158,262,776 (GRCm39) W5R probably damaging Het
Rfx4 T A 10: 84,676,063 (GRCm39) L44Q probably damaging Het
Scube2 T C 7: 109,407,661 (GRCm39) T760A probably damaging Het
Shcbp1 A C 8: 4,804,258 (GRCm39) Y145* probably null Het
Snx31 T A 15: 36,545,761 (GRCm39) probably null Het
Spopl A T 2: 23,427,643 (GRCm39) V163E possibly damaging Het
Sqor T C 2: 122,629,463 (GRCm39) I107T probably damaging Het
Tcte1 T C 17: 45,845,854 (GRCm39) F153L probably damaging Het
Tnfrsf11b T A 15: 54,123,238 (GRCm39) H121L probably damaging Het
Tnip1 G T 11: 54,831,643 (GRCm39) Y10* probably null Het
Tnxb G T 17: 34,904,603 (GRCm39) G1123C probably damaging Het
Wdr62 T C 7: 29,942,948 (GRCm39) E515G probably benign Het
Zfand1 A T 3: 10,413,590 (GRCm39) D32E probably null Het
Zfp112 A C 7: 23,821,668 (GRCm39) T3P probably damaging Het
Other mutations in Itih4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Itih4 APN 14 30,611,561 (GRCm39) missense probably benign 0.03
IGL01309:Itih4 APN 14 30,613,706 (GRCm39) missense probably damaging 1.00
IGL01433:Itih4 APN 14 30,617,405 (GRCm39) missense probably benign 0.01
IGL01598:Itih4 APN 14 30,609,774 (GRCm39) missense possibly damaging 0.92
IGL02332:Itih4 APN 14 30,609,817 (GRCm39) missense probably damaging 1.00
IGL03075:Itih4 APN 14 30,614,240 (GRCm39) missense probably benign 0.02
IGL03304:Itih4 APN 14 30,620,006 (GRCm39) missense probably damaging 0.98
IGL03353:Itih4 APN 14 30,609,801 (GRCm39) missense probably damaging 1.00
IGL03396:Itih4 APN 14 30,609,906 (GRCm39) missense probably damaging 1.00
PIT4453001:Itih4 UTSW 14 30,623,127 (GRCm39) missense probably benign 0.29
R0304:Itih4 UTSW 14 30,612,051 (GRCm39) splice site probably null
R0477:Itih4 UTSW 14 30,611,631 (GRCm39) missense probably damaging 1.00
R0783:Itih4 UTSW 14 30,617,380 (GRCm39) missense possibly damaging 0.84
R0882:Itih4 UTSW 14 30,614,231 (GRCm39) missense probably damaging 1.00
R1118:Itih4 UTSW 14 30,618,124 (GRCm39) splice site probably benign
R1126:Itih4 UTSW 14 30,611,918 (GRCm39) critical splice donor site probably null
R1238:Itih4 UTSW 14 30,609,906 (GRCm39) missense probably damaging 1.00
R1456:Itih4 UTSW 14 30,614,610 (GRCm39) missense probably benign 0.31
R1573:Itih4 UTSW 14 30,619,504 (GRCm39) missense probably benign 0.00
R1695:Itih4 UTSW 14 30,613,456 (GRCm39) critical splice donor site probably null
R2085:Itih4 UTSW 14 30,614,280 (GRCm39) missense possibly damaging 0.91
R2093:Itih4 UTSW 14 30,613,694 (GRCm39) missense probably damaging 1.00
R2213:Itih4 UTSW 14 30,612,670 (GRCm39) missense probably damaging 0.99
R2249:Itih4 UTSW 14 30,621,351 (GRCm39) nonsense probably null
R2267:Itih4 UTSW 14 30,614,385 (GRCm39) missense probably damaging 1.00
R2268:Itih4 UTSW 14 30,614,385 (GRCm39) missense probably damaging 1.00
R2508:Itih4 UTSW 14 30,617,435 (GRCm39) missense probably damaging 1.00
R3724:Itih4 UTSW 14 30,614,541 (GRCm39) missense possibly damaging 0.60
R3859:Itih4 UTSW 14 30,614,286 (GRCm39) missense probably damaging 1.00
R4042:Itih4 UTSW 14 30,616,995 (GRCm39) missense probably damaging 1.00
R4044:Itih4 UTSW 14 30,616,995 (GRCm39) missense probably damaging 1.00
R4246:Itih4 UTSW 14 30,613,359 (GRCm39) missense probably damaging 1.00
R4422:Itih4 UTSW 14 30,611,821 (GRCm39) missense probably damaging 1.00
R4553:Itih4 UTSW 14 30,622,910 (GRCm39) missense probably damaging 1.00
R4581:Itih4 UTSW 14 30,622,925 (GRCm39) missense probably benign 0.01
R4608:Itih4 UTSW 14 30,623,626 (GRCm39) missense probably damaging 1.00
R4609:Itih4 UTSW 14 30,623,626 (GRCm39) missense probably damaging 1.00
R4726:Itih4 UTSW 14 30,611,792 (GRCm39) missense probably damaging 1.00
R4790:Itih4 UTSW 14 30,611,867 (GRCm39) missense probably damaging 1.00
R4975:Itih4 UTSW 14 30,614,244 (GRCm39) missense probably damaging 1.00
R5004:Itih4 UTSW 14 30,614,629 (GRCm39) missense probably damaging 1.00
R5911:Itih4 UTSW 14 30,612,612 (GRCm39) missense possibly damaging 0.90
R6014:Itih4 UTSW 14 30,614,586 (GRCm39) missense probably benign 0.01
R6957:Itih4 UTSW 14 30,614,560 (GRCm39) missense probably damaging 1.00
R7012:Itih4 UTSW 14 30,612,706 (GRCm39) missense probably benign 0.16
R7075:Itih4 UTSW 14 30,614,560 (GRCm39) missense probably damaging 1.00
R7195:Itih4 UTSW 14 30,621,432 (GRCm39) missense probably damaging 1.00
R7231:Itih4 UTSW 14 30,618,571 (GRCm39) missense probably benign 0.17
R7509:Itih4 UTSW 14 30,617,404 (GRCm39) missense probably benign 0.08
R7819:Itih4 UTSW 14 30,623,620 (GRCm39) missense probably benign 0.00
R7967:Itih4 UTSW 14 30,614,370 (GRCm39) missense probably damaging 1.00
R8084:Itih4 UTSW 14 30,621,400 (GRCm39) missense possibly damaging 0.95
R8257:Itih4 UTSW 14 30,609,825 (GRCm39) missense possibly damaging 0.93
R8534:Itih4 UTSW 14 30,622,979 (GRCm39) missense probably benign 0.13
R8797:Itih4 UTSW 14 30,618,529 (GRCm39) missense probably benign 0.00
R8886:Itih4 UTSW 14 30,617,482 (GRCm39) nonsense probably null
R9006:Itih4 UTSW 14 30,612,086 (GRCm39) missense probably damaging 1.00
R9035:Itih4 UTSW 14 30,618,650 (GRCm39) missense probably benign 0.00
R9377:Itih4 UTSW 14 30,608,533 (GRCm39) missense probably damaging 1.00
Z1176:Itih4 UTSW 14 30,621,419 (GRCm39) frame shift probably null
Posted On 2011-07-12