Incidental Mutation 'R9399:Itih3'
| ID |
711016 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R9399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30630529-30645717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30643335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 151
(T151A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006697]
[ENSMUST00000227995]
|
| AlphaFold |
Q61704 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006697
AA Change: T151A
PolyPhen 2
Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: T151A
| 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 |
probably benign
Transcript: ENSMUST00000227995
AA Change: T151A
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
C |
14: 32,384,615 (GRCm39) |
L450R |
probably damaging |
Het |
| 4933427I04Rik |
T |
A |
4: 123,754,413 (GRCm39) |
L109* |
probably null |
Het |
| Amotl2 |
T |
C |
9: 102,606,531 (GRCm39) |
L576P |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,618,179 (GRCm39) |
N1891S |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,763,455 (GRCm39) |
H1563L |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,664,588 (GRCm39) |
T732A |
possibly damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,780,713 (GRCm39) |
I312T |
probably benign |
Het |
| Bcl9 |
C |
T |
3: 97,113,289 (GRCm39) |
M1055I |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,486,791 (GRCm39) |
N180D |
possibly damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,021 (GRCm39) |
T356S |
probably benign |
Het |
| Cdh18 |
A |
C |
15: 23,173,899 (GRCm39) |
T38P |
probably damaging |
Het |
| Cdk7 |
G |
T |
13: 100,840,988 (GRCm39) |
P308Q |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,468,592 (GRCm39) |
A1715V |
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,367,842 (GRCm39) |
V590D |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,916,584 (GRCm39) |
G364R |
unknown |
Het |
| Ddhd1 |
C |
T |
14: 45,895,117 (GRCm39) |
G118R |
possibly damaging |
Het |
| Fgfr4 |
C |
T |
13: 55,304,293 (GRCm39) |
T111M |
probably damaging |
Het |
| Fndc8 |
A |
T |
11: 82,788,739 (GRCm39) |
T190S |
probably damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,866 (GRCm39) |
|
probably benign |
Het |
| Glra3 |
T |
A |
8: 56,542,079 (GRCm39) |
I274N |
probably damaging |
Het |
| Gpsm2 |
G |
A |
3: 108,590,090 (GRCm39) |
R499* |
probably null |
Het |
| Gzme |
T |
A |
14: 56,355,796 (GRCm39) |
D172V |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,717,385 (GRCm39) |
D536E |
probably benign |
Het |
| Kctd7 |
T |
C |
5: 130,177,033 (GRCm39) |
Y95H |
probably damaging |
Het |
| Lipe |
A |
T |
7: 25,097,227 (GRCm39) |
C239S |
probably benign |
Het |
| Lpcat3 |
T |
C |
6: 124,640,283 (GRCm39) |
S38P |
probably benign |
Het |
| Mical2 |
C |
T |
7: 111,946,082 (GRCm39) |
R1015C |
probably damaging |
Het |
| Midn |
C |
T |
10: 79,992,210 (GRCm39) |
R421* |
probably null |
Het |
| Mmp17 |
A |
T |
5: 129,671,686 (GRCm39) |
K79* |
probably null |
Het |
| Or8b39 |
A |
G |
9: 37,997,020 (GRCm39) |
H296R |
probably benign |
Het |
| Or8k16 |
G |
C |
2: 85,520,395 (GRCm39) |
L207F |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,282,744 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,755,010 (GRCm39) |
V79A |
probably damaging |
Het |
| Prkd3 |
G |
T |
17: 79,264,719 (GRCm39) |
P633H |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,591,794 (GRCm39) |
S294C |
probably damaging |
Het |
| Raph1 |
T |
A |
1: 60,565,154 (GRCm39) |
Q111L |
probably benign |
Het |
| Rufy3 |
A |
T |
5: 88,797,725 (GRCm39) |
N634I |
possibly damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,265,486 (GRCm39) |
V1102G |
probably benign |
Het |
| Sh2b1 |
AGCTCAGCC |
AGCTCAGCCCCGGGGACCCGCTCAGCC |
7: 126,066,750 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GG |
GGCACCAGCTCAGCCCCGCG |
7: 126,066,762 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGGACCAGCTCAGCCACG |
GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG |
7: 126,066,744 (GRCm39) |
|
probably benign |
Het |
| Slc25a23 |
C |
A |
17: 57,360,930 (GRCm39) |
G165C |
probably damaging |
Het |
| Spata31e1 |
T |
A |
13: 49,940,175 (GRCm39) |
T512S |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,041,658 (GRCm39) |
D585E |
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,858,856 (GRCm39) |
T372A |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,214,768 (GRCm39) |
Y250* |
probably null |
Het |
| Vmn2r92 |
T |
A |
17: 18,389,137 (GRCm39) |
S484T |
probably benign |
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 |
|
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 |
|
|
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'- ATGTCCTTGGCTCAGCTCTG -3'
(R):5'- TATCCCCAGAATATCCCATTGC -3'
Sequencing Primer
(F):5'- AGCTCTGAGACATGCTCTCC -3'
(R):5'- TTGGAATAGATAGGAAGGTCTCTAAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation