Incidental Mutation 'R0321:Itih3'
| ID |
35884 |
| 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 |
038531-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30630529-30645717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30634063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 153
(I153F)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006697]
[ENSMUST00000226547]
[ENSMUST00000227995]
[ENSMUST00000228114]
|
| AlphaFold |
Q61704 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006697
AA Change: I692F
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: I692F
| 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 |
probably damaging
Transcript: ENSMUST00000166622
AA Change: I153F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131805
Gene: ENSMUSG00000006522
AA Change: I153F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:VWA
|
17 |
80 |
1e-23 |
BLAST |
|
Pfam:ITI_HC_C
|
143 |
224 |
3.9e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226179
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226547
AA Change: I153F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227181
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227995
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228114
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
100% (79/79) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,620 (GRCm39) |
T353A |
probably benign |
Het |
| 4933402N03Rik |
T |
A |
7: 130,747,956 (GRCm39) |
Y12F |
probably benign |
Het |
| Acbd3 |
T |
G |
1: 180,579,870 (GRCm39) |
F505V |
probably damaging |
Het |
| Acod1 |
T |
C |
14: 103,292,565 (GRCm39) |
V363A |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,855,200 (GRCm39) |
Q647R |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,185,243 (GRCm39) |
L296F |
probably damaging |
Het |
| Ap1b1 |
G |
A |
11: 4,982,464 (GRCm39) |
A588T |
probably benign |
Het |
| Armc8 |
A |
T |
9: 99,415,230 (GRCm39) |
I150K |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,164,251 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 36,960,937 (GRCm39) |
|
probably null |
Het |
| Carmil3 |
C |
A |
14: 55,739,698 (GRCm39) |
D928E |
possibly damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,885,279 (GRCm39) |
N73S |
probably damaging |
Het |
| Cdk9 |
C |
A |
2: 32,602,698 (GRCm39) |
|
probably benign |
Het |
| Cel |
G |
T |
2: 28,451,160 (GRCm39) |
Q66K |
probably benign |
Het |
| D930028M14Rik |
T |
A |
7: 24,854,991 (GRCm39) |
|
noncoding transcript |
Het |
| Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
| Dlg1 |
T |
C |
16: 31,676,854 (GRCm39) |
V801A |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,900,416 (GRCm39) |
D3834G |
probably benign |
Het |
| Dnajc15 |
C |
T |
14: 78,112,273 (GRCm39) |
A23T |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,910,007 (GRCm39) |
L119Q |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,035,716 (GRCm39) |
W51R |
probably damaging |
Het |
| F10 |
T |
C |
8: 13,103,413 (GRCm39) |
F266L |
possibly damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,587 (GRCm39) |
N61S |
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,671,620 (GRCm39) |
S605N |
probably benign |
Het |
| Fbxw15 |
C |
T |
9: 109,394,453 (GRCm39) |
V121I |
probably benign |
Het |
| Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
| Gfi1b |
A |
G |
2: 28,503,897 (GRCm39) |
F101S |
probably damaging |
Het |
| Gimap5 |
C |
G |
6: 48,727,449 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
C |
14: 118,385,699 (GRCm39) |
|
probably null |
Het |
| Gsn |
T |
C |
2: 35,180,408 (GRCm39) |
F188L |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,952,788 (GRCm39) |
I368N |
possibly damaging |
Het |
| Kdm8 |
A |
T |
7: 125,060,178 (GRCm39) |
Q360L |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,335,697 (GRCm39) |
K1140E |
probably damaging |
Het |
| Mocs1 |
A |
G |
17: 49,740,286 (GRCm39) |
Y71C |
probably damaging |
Het |
| Mroh5 |
C |
T |
15: 73,661,892 (GRCm39) |
G433E |
probably damaging |
Het |
| Mrpl45 |
T |
A |
11: 97,217,764 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,686,426 (GRCm39) |
T827S |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,415,972 (GRCm39) |
S2973P |
probably benign |
Het |
| Mynn |
T |
C |
3: 30,661,706 (GRCm39) |
S263P |
probably benign |
Het |
| Myo1f |
A |
C |
17: 33,811,986 (GRCm39) |
D595A |
probably benign |
Het |
| Necab1 |
A |
T |
4: 14,960,083 (GRCm39) |
I288N |
probably damaging |
Het |
| Nutm2 |
T |
G |
13: 50,626,991 (GRCm39) |
M382R |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,779,183 (GRCm39) |
S131P |
probably damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,301,891 (GRCm39) |
S619P |
probably benign |
Het |
| Phkg1 |
A |
T |
5: 129,898,365 (GRCm39) |
M1K |
probably null |
Het |
| Pigc |
C |
T |
1: 161,798,668 (GRCm39) |
Q217* |
probably null |
Het |
| Pik3r4 |
T |
A |
9: 105,525,906 (GRCm39) |
F259I |
probably damaging |
Het |
| Pkdcc |
A |
T |
17: 83,529,541 (GRCm39) |
|
probably benign |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,755,307 (GRCm39) |
I259F |
possibly damaging |
Het |
| Prune2 |
T |
G |
19: 17,098,291 (GRCm39) |
L1265R |
possibly damaging |
Het |
| Prune2 |
C |
T |
19: 17,099,818 (GRCm39) |
A1774V |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,738,139 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,328,931 (GRCm39) |
Q2067* |
probably null |
Het |
| Sec14l1 |
T |
A |
11: 117,041,568 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
C |
T |
1: 106,975,212 (GRCm39) |
W198* |
probably null |
Het |
| Smpdl3b |
A |
T |
4: 132,468,755 (GRCm39) |
V154E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,008,719 (GRCm39) |
S1950P |
probably damaging |
Het |
| Sprr1a |
T |
C |
3: 92,391,609 (GRCm39) |
T131A |
probably benign |
Het |
| Tatdn2 |
T |
G |
6: 113,686,462 (GRCm39) |
L690W |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,496,937 (GRCm39) |
F864L |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,674,444 (GRCm39) |
R243S |
probably damaging |
Het |
| Tnfrsf11a |
T |
A |
1: 105,772,583 (GRCm39) |
C623* |
probably null |
Het |
| Tprg1l |
T |
C |
4: 154,243,812 (GRCm39) |
N115D |
probably damaging |
Het |
| Ube2t |
C |
T |
1: 134,895,538 (GRCm39) |
A4V |
possibly damaging |
Het |
| Vps41 |
G |
A |
13: 19,026,465 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,149,303 (GRCm39) |
|
probably null |
Het |
| Wwc1 |
G |
A |
11: 35,732,637 (GRCm39) |
Q1024* |
probably null |
Het |
| Zfand5 |
T |
A |
19: 21,253,879 (GRCm39) |
N27K |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,608,873 (GRCm39) |
C1641S |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,629,042 (GRCm39) |
I1465T |
probably damaging |
Het |
| Zswim1 |
G |
A |
2: 164,667,947 (GRCm39) |
G400S |
probably benign |
Het |
| Zswim3 |
C |
T |
2: 164,662,279 (GRCm39) |
A253V |
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 |
|
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 |
|
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'- GAACTTACCCAGTCTGTGTGACCG -3'
(R):5'- AGAGAAGGTCCACAATGTCCCAGC -3'
Sequencing Primer
(F):5'- GTGATTGTGTCTAGCCAACTGAAC -3'
(R):5'- AAGCTTCTAGTGTGGAATTTGGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation