Incidental Mutation 'IGL01092:Itih3'
ID |
52671 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itih3
|
Ensembl Gene |
ENSMUSG00000006522 |
Gene Name |
inter-alpha trypsin inhibitor, heavy chain 3 |
Synonyms |
Itih-3, Intin3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01092
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
30630529-30645717 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30631738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 593
(K593I)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006697]
[ENSMUST00000226547]
[ENSMUST00000227995]
[ENSMUST00000228114]
|
AlphaFold |
Q61704 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006697
AA Change: K783I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000006697 Gene: ENSMUSG00000006522 AA Change: K783I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
VIT
|
29 |
158 |
3.87e-83 |
SMART |
VWA
|
282 |
466 |
1.19e-29 |
SMART |
Blast:VWA
|
571 |
634 |
2e-21 |
BLAST |
Pfam:ITI_HC_C
|
683 |
870 |
3e-73 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112141
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169620
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170415
AA Change: K593I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133027 Gene: ENSMUSG00000006522 AA Change: K593I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
VIT
|
29 |
158 |
3.87e-83 |
SMART |
VWA
|
282 |
466 |
1.19e-29 |
SMART |
Pfam:ITI_HC_C
|
503 |
680 |
1.5e-67 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226179
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227181
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227995
AA Change: K593I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228114
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes one of the heavy subunits of inter alpha trypsin inhibitor that functions as a protease inhibitor circulating in the plasma. The encoded protein undergoes proteolytic processing to generate a mature glycoprotein that is linked to the other subunits via an ester bond between the C-terminal aspartic acid residue and the N-acetyl galactosamine residue of chondroitin sulfate. This gene is located in a cluster of related inter alpha trypsin inhibitor genes on chromosome 14. [provided by RefSeq, Oct 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap33 |
T |
C |
7: 30,229,371 (GRCm39) |
R335G |
probably damaging |
Het |
Atad2b |
C |
T |
12: 5,067,987 (GRCm39) |
S995L |
probably damaging |
Het |
Atrn |
A |
T |
2: 130,789,556 (GRCm39) |
R340* |
probably null |
Het |
Ccdc83 |
A |
T |
7: 89,896,313 (GRCm39) |
D85E |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,091,434 (GRCm39) |
H1602Q |
possibly damaging |
Het |
Cog2 |
A |
G |
8: 125,272,019 (GRCm39) |
D511G |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
Creb3l4 |
T |
C |
3: 90,145,045 (GRCm39) |
E369G |
probably damaging |
Het |
Crnkl1 |
T |
C |
2: 145,761,868 (GRCm39) |
K563R |
probably benign |
Het |
Dbi |
T |
C |
1: 120,041,207 (GRCm39) |
K131E |
probably benign |
Het |
Edn1 |
A |
G |
13: 42,457,147 (GRCm39) |
D60G |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,970,520 (GRCm39) |
N1032S |
probably damaging |
Het |
Ero1a |
T |
C |
14: 45,541,043 (GRCm39) |
D107G |
probably benign |
Het |
Glmn |
A |
T |
5: 107,726,378 (GRCm39) |
|
probably null |
Het |
Grxcr1 |
T |
C |
5: 68,267,905 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
T |
C |
7: 30,279,932 (GRCm39) |
Y1356C |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,640,959 (GRCm39) |
C3495Y |
probably damaging |
Het |
Map3k13 |
A |
T |
16: 21,746,766 (GRCm39) |
T950S |
probably damaging |
Het |
Me1 |
A |
T |
9: 86,480,801 (GRCm39) |
V348D |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,634,042 (GRCm39) |
V718A |
probably benign |
Het |
Myh7 |
T |
C |
14: 55,209,089 (GRCm39) |
E1883G |
possibly damaging |
Het |
Or10ak14 |
T |
A |
4: 118,610,959 (GRCm39) |
I259F |
possibly damaging |
Het |
Or8b49 |
T |
G |
9: 38,506,201 (GRCm39) |
I228R |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,509,249 (GRCm39) |
|
probably benign |
Het |
Plcb3 |
T |
A |
19: 6,932,690 (GRCm39) |
E1025V |
probably benign |
Het |
Ppp1r26 |
C |
T |
2: 28,343,872 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,430,298 (GRCm39) |
|
probably benign |
Het |
Rwdd4a |
C |
T |
8: 47,997,147 (GRCm39) |
T122M |
possibly damaging |
Het |
Sdhb |
T |
G |
4: 140,704,791 (GRCm39) |
C251G |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,921,137 (GRCm39) |
I678N |
probably damaging |
Het |
Snrnp70 |
T |
C |
7: 45,026,801 (GRCm39) |
D215G |
probably damaging |
Het |
Ston1 |
A |
G |
17: 88,951,871 (GRCm39) |
E674G |
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,920,879 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
A |
T |
17: 24,924,226 (GRCm39) |
I177N |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,612,811 (GRCm39) |
V483A |
probably damaging |
Het |
|
Other mutations in Itih3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01359:Itih3
|
APN |
14 |
30,639,729 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01965:Itih3
|
APN |
14 |
30,637,677 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02435:Itih3
|
APN |
14 |
30,637,711 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02539:Itih3
|
APN |
14 |
30,634,621 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02637:Itih3
|
APN |
14 |
30,637,617 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02958:Itih3
|
APN |
14 |
30,635,139 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03253:Itih3
|
APN |
14 |
30,633,880 (GRCm39) |
critical splice donor site |
probably null |
|
K2124:Itih3
|
UTSW |
14 |
30,634,644 (GRCm39) |
missense |
probably benign |
0.40 |
R0321:Itih3
|
UTSW |
14 |
30,634,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R0466:Itih3
|
UTSW |
14 |
30,634,831 (GRCm39) |
critical splice donor site |
probably null |
|
R1402:Itih3
|
UTSW |
14 |
30,630,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R1402:Itih3
|
UTSW |
14 |
30,630,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R1633:Itih3
|
UTSW |
14 |
30,639,355 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1982:Itih3
|
UTSW |
14 |
30,645,540 (GRCm39) |
unclassified |
probably benign |
|
R2056:Itih3
|
UTSW |
14 |
30,631,481 (GRCm39) |
splice site |
probably null |
|
R2077:Itih3
|
UTSW |
14 |
30,631,792 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2417:Itih3
|
UTSW |
14 |
30,639,621 (GRCm39) |
missense |
probably benign |
0.04 |
R3624:Itih3
|
UTSW |
14 |
30,636,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R3794:Itih3
|
UTSW |
14 |
30,640,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R4676:Itih3
|
UTSW |
14 |
30,643,643 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4676:Itih3
|
UTSW |
14 |
30,640,906 (GRCm39) |
missense |
probably null |
1.00 |
R5198:Itih3
|
UTSW |
14 |
30,634,606 (GRCm39) |
missense |
probably benign |
0.07 |
R5429:Itih3
|
UTSW |
14 |
30,645,478 (GRCm39) |
missense |
probably benign |
0.00 |
R6379:Itih3
|
UTSW |
14 |
30,631,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R6740:Itih3
|
UTSW |
14 |
30,634,644 (GRCm39) |
missense |
probably benign |
0.40 |
R6752:Itih3
|
UTSW |
14 |
30,645,446 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6765:Itih3
|
UTSW |
14 |
30,631,430 (GRCm39) |
missense |
probably benign |
|
R6785:Itih3
|
UTSW |
14 |
30,634,572 (GRCm39) |
critical splice donor site |
probably null |
|
R6871:Itih3
|
UTSW |
14 |
30,634,644 (GRCm39) |
missense |
probably benign |
0.40 |
R6935:Itih3
|
UTSW |
14 |
30,634,659 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7133:Itih3
|
UTSW |
14 |
30,639,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R7419:Itih3
|
UTSW |
14 |
30,636,730 (GRCm39) |
missense |
probably benign |
0.41 |
R7592:Itih3
|
UTSW |
14 |
30,630,722 (GRCm39) |
missense |
probably damaging |
0.98 |
R7598:Itih3
|
UTSW |
14 |
30,639,334 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7662:Itih3
|
UTSW |
14 |
30,639,287 (GRCm39) |
missense |
probably benign |
0.00 |
R8183:Itih3
|
UTSW |
14 |
30,631,433 (GRCm39) |
missense |
probably benign |
|
R8682:Itih3
|
UTSW |
14 |
30,642,673 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8723:Itih3
|
UTSW |
14 |
30,630,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R8794:Itih3
|
UTSW |
14 |
30,634,854 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8892:Itih3
|
UTSW |
14 |
30,637,635 (GRCm39) |
missense |
probably benign |
|
R9358:Itih3
|
UTSW |
14 |
30,643,885 (GRCm39) |
nonsense |
probably null |
|
R9399:Itih3
|
UTSW |
14 |
30,643,335 (GRCm39) |
missense |
probably benign |
0.37 |
R9476:Itih3
|
UTSW |
14 |
30,631,416 (GRCm39) |
missense |
probably benign |
0.14 |
R9510:Itih3
|
UTSW |
14 |
30,631,416 (GRCm39) |
missense |
probably benign |
0.14 |
R9649:Itih3
|
UTSW |
14 |
30,637,605 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9690:Itih3
|
UTSW |
14 |
30,640,264 (GRCm39) |
missense |
probably benign |
|
R9709:Itih3
|
UTSW |
14 |
30,637,587 (GRCm39) |
critical splice donor site |
probably null |
|
R9749:Itih3
|
UTSW |
14 |
30,641,279 (GRCm39) |
missense |
probably damaging |
1.00 |
Y5408:Itih3
|
UTSW |
14 |
30,643,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |