Incidental Mutation 'R8723:Itih3'
| ID |
662241 |
| 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 |
068615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30630529-30645717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30630761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 850
(Q850L)
|
| 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: Q850L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: Q850L
| 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 |
possibly damaging
Transcript: ENSMUST00000227995
AA Change: Q660L
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228114
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,360,897 (GRCm39) |
H465Q |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,324,513 (GRCm39) |
H647R |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Adgrg7 |
T |
G |
16: 56,582,282 (GRCm39) |
R285S |
probably benign |
Het |
| Alkbh1 |
A |
G |
12: 87,485,278 (GRCm39) |
V115A |
probably benign |
Het |
| Ankrd50 |
A |
C |
3: 38,511,453 (GRCm39) |
F305V |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,686 (GRCm39) |
S414P |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,986,206 (GRCm39) |
I282V |
probably benign |
Het |
| Aoah |
T |
G |
13: 21,184,180 (GRCm39) |
Y415D |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,548,510 (GRCm39) |
V1188A |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,462,907 (GRCm39) |
I1651T |
probably benign |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Ctnnd1 |
G |
A |
2: 84,450,384 (GRCm39) |
P279S |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,891,685 (GRCm39) |
E3298V |
probably damaging |
Het |
| Ear14 |
C |
T |
14: 51,441,513 (GRCm39) |
T123I |
possibly damaging |
Het |
| Elf3 |
A |
G |
1: 135,185,385 (GRCm39) |
L43P |
possibly damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,397,092 (GRCm39) |
|
probably benign |
Het |
| Figla |
A |
G |
6: 85,997,724 (GRCm39) |
T151A |
probably benign |
Het |
| Fsd1l |
A |
G |
4: 53,647,001 (GRCm39) |
E56G |
unknown |
Het |
| Gm49359 |
A |
T |
13: 62,602,410 (GRCm39) |
H263Q |
probably damaging |
Het |
| Gprc6a |
A |
T |
10: 51,491,518 (GRCm39) |
C744S |
probably damaging |
Het |
| Grhl1 |
G |
A |
12: 24,662,244 (GRCm39) |
|
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Kcnq5 |
A |
G |
1: 21,575,591 (GRCm39) |
V285A |
probably damaging |
Het |
| Klc4 |
T |
G |
17: 46,951,626 (GRCm39) |
E165A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,316,648 (GRCm39) |
Y2111C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,887,342 (GRCm39) |
E3057G |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,348,910 (GRCm39) |
Q4006* |
probably null |
Het |
| Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,083,055 (GRCm39) |
Y122H |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,272,407 (GRCm39) |
F1466S |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,553 (GRCm39) |
D668G |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,583,501 (GRCm39) |
T279A |
possibly damaging |
Het |
| Or8k3 |
A |
T |
2: 86,058,786 (GRCm39) |
H176Q |
probably damaging |
Het |
| P2rx1 |
C |
A |
11: 72,899,756 (GRCm39) |
N120K |
probably benign |
Het |
| Pif1 |
T |
A |
9: 65,501,673 (GRCm39) |
M569K |
probably damaging |
Het |
| Prkd2 |
G |
A |
7: 16,591,702 (GRCm39) |
V578I |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,101 (GRCm39) |
Y284C |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,410,757 (GRCm39) |
T164A |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,557,802 (GRCm39) |
T559A |
probably benign |
Het |
| Sag |
G |
A |
1: 87,751,175 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
G |
A |
12: 81,182,586 (GRCm39) |
V138I |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,212,215 (GRCm39) |
I1081N |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,553,666 (GRCm39) |
I203T |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,941,863 (GRCm39) |
V611E |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,856,911 (GRCm39) |
D54V |
probably damaging |
Het |
| Tacr2 |
A |
G |
10: 62,094,107 (GRCm39) |
D188G |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,145,731 (GRCm39) |
Y358N |
probably damaging |
Het |
| Trim27 |
A |
C |
13: 21,374,807 (GRCm39) |
|
probably benign |
Het |
| Tsen34 |
A |
G |
7: 3,698,149 (GRCm39) |
E139G |
probably benign |
Het |
| Ttc39a |
T |
A |
4: 109,300,700 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,671,899 (GRCm39) |
I781N |
probably damaging |
Het |
| Uqcc1 |
C |
T |
2: 155,729,100 (GRCm39) |
W21* |
probably null |
Het |
| Vmn2r117 |
A |
T |
17: 23,696,343 (GRCm39) |
W355R |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,910 (GRCm39) |
V420A |
probably benign |
Het |
| Zdhhc21 |
A |
T |
4: 82,762,439 (GRCm39) |
I52K |
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 |
|
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'- GCATGAAGGCTCTCAGAGAC -3'
(R):5'- ACAGCAAGGTGGTAAAGTACTTAC -3'
Sequencing Primer
(F):5'- CCACAAGCCCCATTCTGTG -3'
(R):5'- GCCCTGGATTTAATCCTAGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation