Incidental Mutation 'R9690:Itih3'
| ID |
729118 |
| 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 # |
R9690 (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 30640264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 348
(K348R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006697]
[ENSMUST00000226547]
[ENSMUST00000227995]
[ENSMUST00000228114]
|
| AlphaFold |
Q61704 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006697
AA Change: K348R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: K348R
| 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: ENSMUST00000226547
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227995
AA Change: K348R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228114
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI182371 |
T |
A |
2: 34,990,600 (GRCm39) |
E22D |
probably benign |
Het |
| Apbb2 |
C |
T |
5: 66,609,521 (GRCm39) |
R42H |
probably damaging |
Het |
| Atf2 |
A |
T |
2: 73,675,813 (GRCm39) |
S179R |
probably benign |
Het |
| Cage1 |
A |
G |
13: 38,203,141 (GRCm39) |
|
probably null |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,503,300 (GRCm39) |
T135A |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,460,345 (GRCm39) |
T696A |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,725,950 (GRCm39) |
S28T |
probably benign |
Het |
| Ddx59 |
T |
A |
1: 136,352,540 (GRCm39) |
I327K |
probably damaging |
Het |
| Ep300 |
A |
C |
15: 81,520,396 (GRCm39) |
Q1229P |
unknown |
Het |
| Epb41l1 |
A |
T |
2: 156,356,038 (GRCm39) |
I525F |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fam83b |
A |
G |
9: 76,398,502 (GRCm39) |
I867T |
probably benign |
Het |
| Gapvd1 |
C |
T |
2: 34,618,492 (GRCm39) |
V294I |
probably damaging |
Het |
| Gm5798 |
T |
G |
14: 41,070,596 (GRCm39) |
F2C |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Irgq |
G |
T |
7: 24,233,580 (GRCm39) |
A474S |
probably benign |
Het |
| Kcnip4 |
T |
A |
5: 48,555,846 (GRCm39) |
N154I |
probably damaging |
Het |
| Letm2 |
T |
A |
8: 26,077,435 (GRCm39) |
K218N |
probably damaging |
Het |
| Mak16 |
T |
C |
8: 31,650,798 (GRCm39) |
S231G |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,169,670 (GRCm39) |
I1898K |
probably damaging |
Het |
| Mtcl2 |
A |
T |
2: 156,862,134 (GRCm39) |
D1598E |
probably benign |
Het |
| Myh13 |
C |
T |
11: 67,249,194 (GRCm39) |
L1305F |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,108,204 (GRCm39) |
Y1104H |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,890,593 (GRCm39) |
L115F |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,890,594 (GRCm39) |
K116* |
probably null |
Het |
| Or1j11 |
T |
A |
2: 36,311,530 (GRCm39) |
L40Q |
probably damaging |
Het |
| Or4k35 |
C |
T |
2: 111,099,822 (GRCm39) |
A297T |
probably damaging |
Het |
| Or5w22 |
C |
A |
2: 87,362,759 (GRCm39) |
N127K |
probably benign |
Het |
| Or8b3b |
C |
A |
9: 38,584,477 (GRCm39) |
E88* |
probably null |
Het |
| Pals1 |
T |
A |
12: 78,866,117 (GRCm39) |
V314D |
probably damaging |
Het |
| Proc |
C |
T |
18: 32,256,371 (GRCm39) |
G432D |
probably damaging |
Het |
| Ptpn20 |
T |
C |
14: 33,353,176 (GRCm39) |
V305A |
probably benign |
Het |
| Rmnd5b |
T |
C |
11: 51,518,511 (GRCm39) |
M122V |
probably benign |
Het |
| Sema4f |
A |
T |
6: 82,912,652 (GRCm39) |
N130K |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,996 (GRCm39) |
I114V |
probably benign |
Het |
| Spata16 |
A |
T |
3: 26,967,432 (GRCm39) |
D394V |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,958,649 (GRCm39) |
T38A |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,936,171 (GRCm39) |
Y2703H |
probably damaging |
Het |
| Trmt11 |
A |
C |
10: 30,436,938 (GRCm39) |
D267E |
probably damaging |
Het |
| Tspyl5 |
C |
A |
15: 33,687,433 (GRCm39) |
A171S |
probably benign |
Het |
| Uchl5 |
T |
C |
1: 143,670,016 (GRCm39) |
V83A |
|
Het |
| Vmn1r87 |
A |
G |
7: 12,866,263 (GRCm39) |
I8T |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,912 (GRCm39) |
S636P |
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 |
|
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 |
|
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'- GAGAACAGGTTTCCCTAGGC -3'
(R):5'- GCTAATAGGCGATCCTCTGTC -3'
Sequencing Primer
(F):5'- TTTCCCTAGGCAGCAAAGG -3'
(R):5'- TCTGTCGGCCTAGGCTAGAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation