Incidental Mutation 'R2417:Itih3'
| ID |
249042 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30630529-30645717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30639621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 400
(T400I)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006697]
[ENSMUST00000226547]
[ENSMUST00000227995]
[ENSMUST00000228114]
|
| AlphaFold |
Q61704 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006697
AA Change: T400I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: T400I
| 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 benign
Transcript: ENSMUST00000170415
AA Change: T400I
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000133027
Gene: ENSMUSG00000006522
AA Change: T400I
| 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 benign
Transcript: ENSMUST00000227995
AA Change: T400I
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228114
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
A |
17: 41,191,101 (GRCm39) |
K109N |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,258,627 (GRCm39) |
V848A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,741,805 (GRCm39) |
P756S |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,852,234 (GRCm39) |
K319E |
probably damaging |
Het |
| Bbs7 |
C |
T |
3: 36,646,546 (GRCm39) |
A425T |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,939 (GRCm39) |
R879W |
probably damaging |
Het |
| Cfap65 |
GTCTT |
GTCTTCTT |
1: 74,966,345 (GRCm39) |
|
probably benign |
Het |
| Cpsf7 |
T |
C |
19: 10,503,332 (GRCm39) |
|
probably benign |
Het |
| Ctf2 |
A |
G |
7: 127,318,759 (GRCm39) |
V80A |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,894,729 (GRCm39) |
L30P |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,502,534 (GRCm39) |
D700G |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,947,579 (GRCm39) |
P613L |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,621 (GRCm39) |
L117Q |
probably damaging |
Het |
| Ncbp1 |
C |
T |
4: 46,168,530 (GRCm39) |
S626L |
probably benign |
Het |
| Nefh |
C |
T |
11: 4,889,479 (GRCm39) |
D1047N |
unknown |
Het |
| Ptprm |
T |
G |
17: 67,251,321 (GRCm39) |
T519P |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,892,007 (GRCm39) |
D1881A |
probably damaging |
Het |
| Sox12 |
T |
C |
2: 152,238,717 (GRCm39) |
D301G |
possibly damaging |
Het |
| Vmn2r14 |
C |
T |
5: 109,372,329 (GRCm39) |
E54K |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,309 (GRCm39) |
N628S |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,668,803 (GRCm39) |
V36M |
possibly damaging |
Het |
| Zfp850 |
A |
T |
7: 27,688,608 (GRCm39) |
N533K |
possibly 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 |
|
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'- TCATCTCCACGGCTATGCTG -3'
(R):5'- CAACAGCCTTGTACTCTGGTG -3'
Sequencing Primer
(F):5'- GGAGACCTGGCTCTTTATATACAGAG -3'
(R):5'- TTGTACTCTGGTGCCCCAAGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation