Incidental Mutation 'R3794:Itih3'
| ID |
272698 |
| 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 |
040756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R3794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30630529-30645717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30640351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 319
(Y319C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006697]
[ENSMUST00000226547]
[ENSMUST00000227995]
[ENSMUST00000228114]
|
| AlphaFold |
Q61704 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006697
AA Change: Y319C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: Y319C
| 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: Y319C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133027
Gene: ENSMUSG00000006522
AA Change: Y319C
| 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: Y319C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228114
|
| Meta Mutation Damage Score |
0.4538 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
| Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
| Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,649,719 (GRCm39) |
Y388H |
unknown |
Het |
| Fasl |
T |
C |
1: 161,609,306 (GRCm39) |
R17G |
probably benign |
Het |
| Htr1a |
G |
A |
13: 105,580,852 (GRCm39) |
V31M |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
| Mobp |
A |
T |
9: 119,997,033 (GRCm39) |
K55* |
probably null |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,221,578 (GRCm39) |
Y351H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
| Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
| Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
| Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
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 |
|
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'- AAGTCTGAGGTCTACCCCAAGG -3'
(R):5'- AGCTTTTACCCACTTCCACAGG -3'
Sequencing Primer
(F):5'- CCCAAGGGAGAGACACAAAG -3'
(R):5'- TCCACAGGGAATTGGGGGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation