Incidental Mutation 'PIT4453001:Itih4'
| ID |
555351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih4
|
| Ensembl Gene |
ENSMUSG00000021922 |
| Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
| Synonyms |
Itih-4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4453001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30886476-30902353 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30901170 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 900
(V900I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006703]
[ENSMUST00000078490]
[ENSMUST00000120269]
[ENSMUST00000168782]
|
| AlphaFold |
A6X935 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006703
AA Change: V860I
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: V860I
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
19 |
148 |
3.22e-80 |
SMART |
|
VWA
|
272 |
456 |
5.97e-30 |
SMART |
|
coiled coil region
|
552 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
690 |
N/A |
INTRINSIC |
|
Pfam:ITI_HC_C
|
781 |
941 |
2e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078490
AA Change: V899I
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: V899I
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
19 |
148 |
3.22e-80 |
SMART |
|
VWA
|
272 |
456 |
5.97e-30 |
SMART |
|
coiled coil region
|
552 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
690 |
N/A |
INTRINSIC |
|
Pfam:ITI_HC_C
|
777 |
941 |
2.2e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120269
AA Change: V900I
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: V900I
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
19 |
148 |
3.22e-80 |
SMART |
|
VWA
|
272 |
456 |
5.97e-30 |
SMART |
|
coiled coil region
|
552 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
690 |
N/A |
INTRINSIC |
|
Pfam:ITI_HC_C
|
738 |
902 |
6.5e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168782
AA Change: V883I
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: V883I
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
19 |
148 |
3.22e-80 |
SMART |
|
VWA
|
272 |
456 |
5.97e-30 |
SMART |
|
coiled coil region
|
552 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
690 |
N/A |
INTRINSIC |
|
Pfam:ITI_HC_C
|
761 |
925 |
2.2e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.9%
- 10x: 85.6%
- 20x: 74.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the inter-alpha trypsin inhibitor (IaI) family of plasma serine protease inhibitors with diverse functions as anti-apoptotic and matrix stabilizing molecules during development. This gene is predominantly expressed in the liver and the encoded protein was found to be a plasma kallikrein-sensitive glycoprotein. This gene is located in a cluster of related inter alpha trypsin inhibitor genes on chromosome 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal. Surprisingly, IL-6/STAT3 signaling is significantly suppressed in mutant liver tissues but hepatocytes remain well differentiated. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
G |
3: 122,105,316 (GRCm38) |
I649S |
probably damaging |
Het |
| Abcc2 |
T |
A |
19: 43,803,782 (GRCm38) |
L334* |
probably null |
Het |
| Adam28 |
A |
T |
14: 68,634,876 (GRCm38) |
S306T |
probably benign |
Het |
| Adam34 |
T |
A |
8: 43,651,312 (GRCm38) |
D432V |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 88,323,636 (GRCm38) |
Y723C |
probably benign |
Het |
| Adgre5 |
T |
A |
8: 83,724,460 (GRCm38) |
M713L |
probably benign |
Het |
| Aebp2 |
C |
A |
6: 140,637,686 (GRCm38) |
C295* |
probably null |
Het |
| Amn1 |
G |
T |
6: 149,170,859 (GRCm38) |
Q127K |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,210,549 (GRCm38) |
V314M |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,581,179 (GRCm38) |
E847G |
probably benign |
Het |
| Atp2b1 |
A |
G |
10: 99,016,978 (GRCm38) |
E1039G |
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,499,292 (GRCm38) |
Y292C |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,214,106 (GRCm38) |
T94A |
probably damaging |
Het |
| Ciart |
T |
A |
3: 95,880,476 (GRCm38) |
K182M |
probably damaging |
Het |
| Col1a2 |
A |
C |
6: 4,527,079 (GRCm38) |
S603R |
possibly damaging |
Het |
| Cspp1 |
C |
A |
1: 10,074,872 (GRCm38) |
S298R |
possibly damaging |
Het |
| Cul7 |
T |
A |
17: 46,651,820 (GRCm38) |
C126S |
probably damaging |
Het |
| Cyp2c55 |
A |
T |
19: 39,011,791 (GRCm38) |
I145F |
probably damaging |
Het |
| Cypt4 |
G |
C |
9: 24,625,474 (GRCm38) |
A87P |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,787,644 (GRCm38) |
V224M |
probably benign |
Het |
| Dlgap5 |
TTC |
T |
14: 47,401,522 (GRCm38) |
|
probably null |
Het |
| Dock1 |
A |
G |
7: 135,152,300 (GRCm38) |
K1602R |
probably benign |
Het |
| Ears2 |
T |
C |
7: 122,048,339 (GRCm38) |
I241V |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,802,489 (GRCm38) |
T975A |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,660,810 (GRCm38) |
T660A |
probably benign |
Het |
| Fbxw7 |
G |
A |
3: 84,965,314 (GRCm38) |
V268M |
|
Het |
| Gart |
A |
G |
16: 91,636,538 (GRCm38) |
F289S |
probably damaging |
Het |
| Gmcl1 |
G |
T |
6: 86,704,538 (GRCm38) |
N391K |
probably benign |
Het |
| Greb1l |
G |
T |
18: 10,533,032 (GRCm38) |
Q975H |
probably benign |
Het |
| Greb1l |
A |
C |
18: 10,533,031 (GRCm38) |
Q975P |
probably damaging |
Het |
| Grik5 |
C |
A |
7: 25,010,694 (GRCm38) |
R872L |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,765,057 (GRCm38) |
I218N |
probably damaging |
Het |
| Hook1 |
A |
T |
4: 96,014,852 (GRCm38) |
D526V |
probably damaging |
Het |
| Ifna4 |
A |
T |
4: 88,841,954 (GRCm38) |
N32Y |
probably damaging |
Het |
| Ighg2b |
T |
A |
12: 113,306,872 (GRCm38) |
N213Y |
unknown |
Het |
| Itpr2 |
A |
T |
6: 146,373,173 (GRCm38) |
F837Y |
probably damaging |
Het |
| Kif3a |
T |
C |
11: 53,579,114 (GRCm38) |
V147A |
probably benign |
Het |
| Klra9 |
T |
A |
6: 130,191,321 (GRCm38) |
|
probably benign |
Het |
| Lamp3 |
G |
T |
16: 19,673,460 (GRCm38) |
Q345K |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,757,794 (GRCm38) |
E1188K |
probably damaging |
Het |
| Med1 |
T |
A |
11: 98,158,417 (GRCm38) |
I518L |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,158,673 (GRCm38) |
T242A |
probably damaging |
Het |
| Nemp1 |
T |
A |
10: 127,696,254 (GRCm38) |
F392Y |
probably benign |
Het |
| Obscn |
T |
A |
11: 59,069,834 (GRCm38) |
H3217L |
possibly damaging |
Het |
| Obscn |
C |
A |
11: 59,060,976 (GRCm38) |
G3984W |
probably damaging |
Het |
| Olfr1532-ps1 |
C |
T |
7: 106,914,929 (GRCm38) |
H244Y |
probably damaging |
Het |
| Olfr709-ps1 |
T |
C |
7: 106,926,842 (GRCm38) |
I206V |
probably benign |
Het |
| Or10ak7 |
A |
G |
4: 118,934,626 (GRCm38) |
M74T |
probably benign |
Het |
| Or13j1 |
A |
G |
4: 43,706,464 (GRCm38) |
Y35H |
probably damaging |
Het |
| Or5l14 |
C |
T |
2: 87,962,458 (GRCm38) |
V145M |
possibly damaging |
Het |
| P4ha1 |
G |
T |
10: 59,350,472 (GRCm38) |
A258S |
probably benign |
Het |
| Parn |
T |
C |
16: 13,607,281 (GRCm38) |
I423V |
probably benign |
Het |
| Pcdh20 |
C |
A |
14: 88,467,308 (GRCm38) |
S852I |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,672,756 (GRCm38) |
|
probably null |
Het |
| Pcsk1 |
A |
T |
13: 75,112,650 (GRCm38) |
I331F |
probably damaging |
Het |
| Pkd1l2 |
G |
T |
8: 117,022,022 (GRCm38) |
S1803R |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 109,660,801 (GRCm38) |
N1792K |
probably damaging |
Het |
| Plekhg1 |
C |
A |
10: 3,963,469 (GRCm38) |
Q1119K |
|
Het |
| Prr30 |
T |
A |
14: 101,198,935 (GRCm38) |
T64S |
probably benign |
Het |
| Rec114 |
T |
C |
9: 58,660,370 (GRCm38) |
N111S |
probably benign |
Het |
| Reck |
G |
A |
4: 43,895,850 (GRCm38) |
V79I |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,550,397 (GRCm38) |
F276L |
probably damaging |
Het |
| Rgs6 |
T |
C |
12: 83,091,779 (GRCm38) |
Y296H |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,212,038 (GRCm38) |
R2149G |
probably benign |
Het |
| Slc20a2 |
C |
A |
8: 22,535,382 (GRCm38) |
F33L |
probably damaging |
Het |
| Spopl |
T |
A |
2: 23,545,449 (GRCm38) |
T25S |
probably damaging |
Het |
| Srcap |
A |
T |
7: 127,549,320 (GRCm38) |
I1947F |
possibly damaging |
Het |
| Srek1 |
A |
C |
13: 103,744,783 (GRCm38) |
|
probably null |
Het |
| St8sia1 |
C |
T |
6: 142,829,252 (GRCm38) |
W200* |
probably null |
Het |
| Tas2r106 |
A |
T |
6: 131,678,502 (GRCm38) |
F129I |
possibly damaging |
Het |
| Tbrg4 |
A |
T |
11: 6,620,857 (GRCm38) |
L205Q |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,445,880 (GRCm38) |
R876S |
unknown |
Het |
| Thap12 |
G |
T |
7: 98,715,038 (GRCm38) |
A138S |
probably benign |
Het |
| Tjp1 |
C |
T |
7: 65,343,614 (GRCm38) |
|
probably null |
Het |
| Traf4 |
G |
A |
11: 78,161,534 (GRCm38) |
P95L |
probably benign |
Het |
| Trappc9 |
ATCTC |
ATCTCTC |
15: 73,031,598 (GRCm38) |
|
probably null |
Het |
| Usp20 |
G |
A |
2: 31,017,486 (GRCm38) |
V677M |
possibly damaging |
Het |
| Usp50 |
C |
A |
2: 126,783,316 (GRCm38) |
|
probably benign |
Het |
| Vmn1r21 |
T |
C |
6: 57,844,322 (GRCm38) |
T46A |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,629,742 (GRCm38) |
H408L |
probably benign |
Het |
| Zfp266 |
T |
C |
9: 20,506,003 (GRCm38) |
T30A |
probably benign |
Het |
| Zfp536 |
T |
C |
7: 37,479,757 (GRCm38) |
H1141R |
probably benign |
Het |
|
| Other mutations in Itih4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Itih4
|
APN |
14 |
30,895,469 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL00776:Itih4
|
APN |
14 |
30,889,604 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01309:Itih4
|
APN |
14 |
30,891,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01433:Itih4
|
APN |
14 |
30,895,448 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01598:Itih4
|
APN |
14 |
30,887,817 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02332:Itih4
|
APN |
14 |
30,887,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03075:Itih4
|
APN |
14 |
30,892,283 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03304:Itih4
|
APN |
14 |
30,898,049 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03353:Itih4
|
APN |
14 |
30,887,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03396:Itih4
|
APN |
14 |
30,887,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0304:Itih4
|
UTSW |
14 |
30,890,094 (GRCm38) |
splice site |
probably null |
|
|
R0477:Itih4
|
UTSW |
14 |
30,889,674 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0783:Itih4
|
UTSW |
14 |
30,895,423 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R0882:Itih4
|
UTSW |
14 |
30,892,274 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1118:Itih4
|
UTSW |
14 |
30,896,167 (GRCm38) |
splice site |
probably benign |
|
|
R1126:Itih4
|
UTSW |
14 |
30,889,961 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1238:Itih4
|
UTSW |
14 |
30,887,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1456:Itih4
|
UTSW |
14 |
30,892,653 (GRCm38) |
missense |
probably benign |
0.31 |
|
R1573:Itih4
|
UTSW |
14 |
30,897,547 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1695:Itih4
|
UTSW |
14 |
30,891,499 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2085:Itih4
|
UTSW |
14 |
30,892,323 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2093:Itih4
|
UTSW |
14 |
30,891,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2213:Itih4
|
UTSW |
14 |
30,890,713 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2249:Itih4
|
UTSW |
14 |
30,899,394 (GRCm38) |
nonsense |
probably null |
|
|
R2267:Itih4
|
UTSW |
14 |
30,892,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2268:Itih4
|
UTSW |
14 |
30,892,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2508:Itih4
|
UTSW |
14 |
30,895,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3724:Itih4
|
UTSW |
14 |
30,892,584 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R3859:Itih4
|
UTSW |
14 |
30,892,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4042:Itih4
|
UTSW |
14 |
30,895,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4044:Itih4
|
UTSW |
14 |
30,895,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4246:Itih4
|
UTSW |
14 |
30,891,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4422:Itih4
|
UTSW |
14 |
30,889,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4553:Itih4
|
UTSW |
14 |
30,900,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4581:Itih4
|
UTSW |
14 |
30,900,968 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4608:Itih4
|
UTSW |
14 |
30,901,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4609:Itih4
|
UTSW |
14 |
30,901,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4726:Itih4
|
UTSW |
14 |
30,889,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4790:Itih4
|
UTSW |
14 |
30,889,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4975:Itih4
|
UTSW |
14 |
30,892,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5004:Itih4
|
UTSW |
14 |
30,892,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5911:Itih4
|
UTSW |
14 |
30,890,655 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6014:Itih4
|
UTSW |
14 |
30,892,629 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6957:Itih4
|
UTSW |
14 |
30,892,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7012:Itih4
|
UTSW |
14 |
30,890,749 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7075:Itih4
|
UTSW |
14 |
30,892,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7195:Itih4
|
UTSW |
14 |
30,899,475 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7231:Itih4
|
UTSW |
14 |
30,896,614 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7509:Itih4
|
UTSW |
14 |
30,895,447 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7819:Itih4
|
UTSW |
14 |
30,901,663 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7967:Itih4
|
UTSW |
14 |
30,892,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8084:Itih4
|
UTSW |
14 |
30,899,443 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8257:Itih4
|
UTSW |
14 |
30,887,868 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8534:Itih4
|
UTSW |
14 |
30,901,022 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8797:Itih4
|
UTSW |
14 |
30,896,572 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8886:Itih4
|
UTSW |
14 |
30,895,525 (GRCm38) |
nonsense |
probably null |
|
|
R9006:Itih4
|
UTSW |
14 |
30,890,129 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9035:Itih4
|
UTSW |
14 |
30,896,693 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9377:Itih4
|
UTSW |
14 |
30,886,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Itih4
|
UTSW |
14 |
30,899,462 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATGACACCCAGCACTTCTC -3'
(R):5'- TGGTACTGCCCACAACCTAG -3'
Sequencing Primer
(F):5'- TTCTCCAACAACGTTAAAGGGG -3'
(R):5'- AAGCTGACCATCCTCTGTGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation