Incidental Mutation 'R0466:Itih3'
| ID |
41655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih3
|
| Ensembl Gene |
ENSMUSG00000006522 |
| Gene Name |
inter-alpha trypsin inhibitor, heavy chain 3 |
| Synonyms |
Itih-3, Intin3 |
| MMRRC Submission |
038666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0466 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30630529-30645717 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 30634831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006697]
[ENSMUST00000226547]
[ENSMUST00000227995]
[ENSMUST00000228114]
|
| AlphaFold |
Q61704 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006697
|
| SMART Domains |
Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
| 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 |
noncoding transcript
Transcript: ENSMUST00000226179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227181
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227995
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228114
|
| Meta Mutation Damage Score |
0.9488 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
97% (63/65) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,887,321 (GRCm39) |
Y373C |
probably benign |
Het |
| Abca12 |
T |
G |
1: 71,341,822 (GRCm39) |
Q1046H |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,714,415 (GRCm39) |
F956S |
probably benign |
Het |
| Alk |
A |
G |
17: 72,212,152 (GRCm39) |
V797A |
possibly damaging |
Het |
| Ascl2 |
A |
G |
7: 142,522,217 (GRCm39) |
L77P |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,405,639 (GRCm39) |
I1509F |
probably damaging |
Het |
| AY358078 |
A |
T |
14: 52,043,089 (GRCm39) |
Y259F |
unknown |
Het |
| Cbs |
G |
A |
17: 31,835,126 (GRCm39) |
A450V |
probably benign |
Het |
| Cdh11 |
T |
A |
8: 103,396,690 (GRCm39) |
Q213L |
possibly damaging |
Het |
| Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
| Cfap126 |
T |
C |
1: 170,953,769 (GRCm39) |
I113T |
probably damaging |
Het |
| Clk4 |
A |
G |
11: 51,158,155 (GRCm39) |
D53G |
possibly damaging |
Het |
| Dab1 |
T |
C |
4: 104,577,747 (GRCm39) |
L272P |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,182,454 (GRCm39) |
|
probably null |
Het |
| Dph5 |
A |
C |
3: 115,722,359 (GRCm39) |
D279A |
probably benign |
Het |
| Fbxw19 |
T |
A |
9: 109,307,717 (GRCm39) |
T461S |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gcg |
T |
C |
2: 62,307,282 (GRCm39) |
D93G |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,901,365 (GRCm39) |
T395A |
probably damaging |
Het |
| H2-Ob |
A |
G |
17: 34,461,633 (GRCm39) |
D124G |
probably damaging |
Het |
| Itga8 |
G |
T |
2: 12,237,697 (GRCm39) |
A341E |
probably damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Kif2c |
C |
T |
4: 117,029,489 (GRCm39) |
R215Q |
possibly damaging |
Het |
| Letm1 |
A |
C |
5: 33,919,074 (GRCm39) |
|
probably benign |
Het |
| Lypd8l |
T |
C |
11: 58,503,331 (GRCm39) |
|
probably benign |
Het |
| Mmp3 |
A |
G |
9: 7,450,165 (GRCm39) |
D299G |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Nfib |
A |
C |
4: 82,416,775 (GRCm39) |
Y87D |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,162,045 (GRCm39) |
|
probably benign |
Het |
| Nsmce1 |
A |
T |
7: 125,071,408 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
T |
A |
18: 7,286,758 (GRCm39) |
I158F |
probably benign |
Het |
| Or7g12 |
T |
G |
9: 18,899,551 (GRCm39) |
V89G |
probably benign |
Het |
| Or7g27 |
A |
T |
9: 19,250,475 (GRCm39) |
T240S |
probably damaging |
Het |
| Patj |
C |
A |
4: 98,576,393 (GRCm39) |
Q1193K |
probably damaging |
Het |
| Pcdhb5 |
G |
A |
18: 37,455,596 (GRCm39) |
V659M |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pmis2 |
T |
C |
7: 30,370,817 (GRCm39) |
I46V |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,509,216 (GRCm39) |
|
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,370,709 (GRCm39) |
F825S |
probably damaging |
Het |
| Rab11fip2 |
G |
A |
19: 59,894,675 (GRCm39) |
A524V |
possibly damaging |
Het |
| Rb1cc1 |
A |
C |
1: 6,333,491 (GRCm39) |
|
probably null |
Het |
| Rwdd3 |
G |
C |
3: 120,952,668 (GRCm39) |
Q180E |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sgcg |
A |
T |
14: 61,459,135 (GRCm39) |
C265S |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,848,878 (GRCm39) |
S445P |
possibly damaging |
Het |
| Slc22a3 |
G |
A |
17: 12,677,380 (GRCm39) |
Q263* |
probably null |
Het |
| Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
| Tbc1d15 |
T |
C |
10: 115,055,077 (GRCm39) |
K322E |
probably damaging |
Het |
| Tecta |
G |
T |
9: 42,284,369 (GRCm39) |
F905L |
probably benign |
Het |
| Tmeff1 |
A |
G |
4: 48,636,853 (GRCm39) |
I184V |
possibly damaging |
Het |
| Ttf1 |
A |
G |
2: 28,955,419 (GRCm39) |
H261R |
possibly damaging |
Het |
| Ttll6 |
T |
A |
11: 96,036,417 (GRCm39) |
L349M |
probably damaging |
Het |
| Ubac2 |
G |
A |
14: 122,211,031 (GRCm39) |
V134M |
probably damaging |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Vmn2r25 |
T |
G |
6: 123,829,008 (GRCm39) |
I89L |
probably benign |
Het |
| Vmn2r6 |
A |
C |
3: 64,463,723 (GRCm39) |
F370L |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,445,748 (GRCm39) |
Y412* |
probably null |
Het |
| Zfp142 |
A |
G |
1: 74,624,570 (GRCm39) |
S85P |
possibly damaging |
Het |
| Zfp516 |
G |
A |
18: 82,975,579 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Itih3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Itih3
|
APN |
14 |
30,631,738 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTCAGATCCTGACAGAAAGCAC -3'
(R):5'- TGAGTGAGTACATGAGGCTGCACC -3'
Sequencing Primer
(F):5'- CCTGTGACTGGGTCCTGAATC -3'
(R):5'- TGTCACAGGCCGATTGACC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation