Incidental Mutation 'R7231:Itih4'
| ID |
562497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih4
|
| Ensembl Gene |
ENSMUSG00000021922 |
| Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
| Synonyms |
Itih-4 |
| MMRRC Submission |
045342-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7231 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30608433-30623943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30618571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 661
(I661F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006703]
[ENSMUST00000078490]
[ENSMUST00000120269]
[ENSMUST00000168782]
|
| AlphaFold |
A6X935 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006703
AA Change: I661F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: I661F
| 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 |
probably benign
Transcript: ENSMUST00000078490
AA Change: I661F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: I661F
| 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: I661F
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: I661F
| 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 |
probably benign
Transcript: ENSMUST00000168782
AA Change: I661F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: I661F
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (78/80) |
| 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 |
|---|
| Abca13 |
A |
T |
11: 9,244,175 (GRCm39) |
T2013S |
probably benign |
Het |
| Ablim3 |
A |
G |
18: 61,938,135 (GRCm39) |
|
probably null |
Het |
| Acvrl1 |
T |
A |
15: 101,034,104 (GRCm39) |
C206* |
probably null |
Het |
| Adamts15 |
C |
A |
9: 30,817,454 (GRCm39) |
R541S |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,221,577 (GRCm39) |
I230V |
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,327,871 (GRCm39) |
D742G |
possibly damaging |
Het |
| Asxl3 |
A |
G |
18: 22,650,597 (GRCm39) |
E862G |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,544,556 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
G |
A |
6: 113,742,693 (GRCm39) |
T798M |
possibly damaging |
Het |
| Car12 |
T |
C |
9: 66,659,599 (GRCm39) |
I208T |
probably damaging |
Het |
| Cgn |
T |
A |
3: 94,680,502 (GRCm39) |
Q600L |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,539,927 (GRCm39) |
A1106T |
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,949,178 (GRCm39) |
V496A |
probably benign |
Het |
| Cplx4 |
C |
A |
18: 66,090,123 (GRCm39) |
D99Y |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,114,963 (GRCm39) |
T915A |
probably benign |
Het |
| Cyp4a32 |
T |
C |
4: 115,466,894 (GRCm39) |
L193P |
probably damaging |
Het |
| Dennd5b |
C |
T |
6: 148,946,102 (GRCm39) |
R503Q |
probably damaging |
Het |
| Depdc5 |
C |
A |
5: 33,059,209 (GRCm39) |
Q303K |
possibly damaging |
Het |
| Dlx1 |
T |
A |
2: 71,362,840 (GRCm39) |
M249K |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,890,892 (GRCm39) |
E3218V |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,856,473 (GRCm39) |
D2896G |
probably damaging |
Het |
| Dtx4 |
C |
A |
19: 12,447,022 (GRCm39) |
G557* |
probably null |
Het |
| Eps8l2 |
A |
G |
7: 140,940,305 (GRCm39) |
N512D |
probably damaging |
Het |
| Fam20a |
T |
C |
11: 109,612,201 (GRCm39) |
D114G |
possibly damaging |
Het |
| Fbln1 |
T |
C |
15: 85,090,353 (GRCm39) |
S7P |
unknown |
Het |
| Fli1 |
T |
C |
9: 32,335,484 (GRCm39) |
E316G |
probably damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Haus8 |
G |
A |
8: 71,705,781 (GRCm39) |
T302I |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,514,627 (GRCm39) |
I3582V |
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,447,842 (GRCm39) |
Q161* |
probably null |
Het |
| Hsf4 |
C |
T |
8: 105,998,779 (GRCm39) |
A223V |
probably damaging |
Het |
| Ighg2c |
A |
G |
12: 113,251,636 (GRCm39) |
W164R |
|
Het |
| Isl1 |
A |
G |
13: 116,439,826 (GRCm39) |
V174A |
probably benign |
Het |
| Klhl14 |
A |
T |
18: 21,785,193 (GRCm39) |
L78Q |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,215,180 (GRCm39) |
I177F |
unknown |
Het |
| Lingo3 |
T |
A |
10: 80,670,938 (GRCm39) |
T331S |
possibly damaging |
Het |
| Lrrc36 |
T |
C |
8: 106,187,689 (GRCm39) |
V535A |
possibly damaging |
Het |
| Mapk8ip2 |
T |
G |
15: 89,342,279 (GRCm39) |
S497A |
probably benign |
Het |
| Mbip |
A |
G |
12: 56,384,547 (GRCm39) |
|
probably null |
Het |
| Nelfa |
C |
T |
5: 34,056,169 (GRCm39) |
G498D |
probably damaging |
Het |
| Nherf2 |
C |
T |
17: 24,869,078 (GRCm39) |
R16H |
probably damaging |
Het |
| Nlrc5 |
T |
A |
8: 95,248,433 (GRCm39) |
|
probably null |
Het |
| Or2ag2b |
A |
T |
7: 106,417,650 (GRCm39) |
Y120F |
probably damaging |
Het |
| Or4f59 |
A |
T |
2: 111,872,711 (GRCm39) |
V222D |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,734,994 (GRCm39) |
S24P |
possibly damaging |
Het |
| Or7e171-ps1 |
T |
A |
9: 19,852,855 (GRCm39) |
T294S |
unknown |
Het |
| Pde2a |
A |
G |
7: 101,155,160 (GRCm39) |
Y567C |
probably damaging |
Het |
| Pdia4 |
A |
T |
6: 47,777,891 (GRCm39) |
F367Y |
probably benign |
Het |
| Pkdrej |
C |
A |
15: 85,700,389 (GRCm39) |
C1849F |
possibly damaging |
Het |
| Plekhj1 |
T |
G |
10: 80,633,492 (GRCm39) |
T52P |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,994,986 (GRCm39) |
Y572N |
probably benign |
Het |
| Prkcq |
T |
A |
2: 11,295,262 (GRCm39) |
Y570* |
probably null |
Het |
| Ptpn3 |
T |
A |
4: 57,245,062 (GRCm39) |
D226V |
probably damaging |
Het |
| Rab1b |
A |
G |
19: 5,155,229 (GRCm39) |
S22P |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,650,976 (GRCm39) |
S2060P |
probably damaging |
Het |
| Rnf148 |
G |
T |
6: 23,654,890 (GRCm39) |
S35R |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Samd15 |
T |
A |
12: 87,247,818 (GRCm39) |
S168T |
possibly damaging |
Het |
| Slc26a4 |
T |
A |
12: 31,597,945 (GRCm39) |
N167I |
probably damaging |
Het |
| Slc39a1 |
C |
A |
3: 90,159,097 (GRCm39) |
H141Q |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,121 (GRCm39) |
S46P |
probably benign |
Het |
| Strip2 |
A |
G |
6: 29,944,486 (GRCm39) |
S657G |
probably damaging |
Het |
| Stxbp3 |
G |
A |
3: 108,708,125 (GRCm39) |
P392L |
probably damaging |
Het |
| Suclg1 |
G |
A |
6: 73,240,954 (GRCm39) |
R161H |
probably benign |
Het |
| Tas1r3 |
T |
C |
4: 155,947,283 (GRCm39) |
Y134C |
probably damaging |
Het |
| Tgif1 |
T |
A |
17: 71,153,168 (GRCm39) |
Q114L |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,074,673 (GRCm39) |
F964L |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,348,195 (GRCm39) |
S247P |
possibly damaging |
Het |
| Trav23 |
A |
T |
14: 54,215,025 (GRCm39) |
R79S |
probably damaging |
Het |
| Trf |
C |
A |
9: 103,102,347 (GRCm39) |
C177F |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,589,408 (GRCm39) |
Y260C |
probably benign |
Het |
| Tulp4 |
T |
C |
17: 6,286,510 (GRCm39) |
F1513L |
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,205,090 (GRCm39) |
V562I |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,491,960 (GRCm39) |
K3083R |
possibly damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,580,888 (GRCm39) |
I63F |
probably benign |
Het |
| Vmn2r38 |
C |
T |
7: 9,100,637 (GRCm39) |
C43Y |
possibly damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,787,010 (GRCm39) |
N32K |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,784,032 (GRCm39) |
V3914A |
|
Het |
| Vwa5b2 |
A |
G |
16: 20,422,878 (GRCm39) |
T984A |
probably benign |
Het |
| Zc3h3 |
C |
T |
15: 75,712,231 (GRCm39) |
V77M |
probably damaging |
Het |
| Zfp397 |
A |
T |
18: 24,093,415 (GRCm39) |
H300L |
probably damaging |
Het |
| Zfp950 |
G |
A |
19: 61,107,650 (GRCm39) |
R478C |
probably benign |
Het |
|
| Other mutations in Itih4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Itih4
|
APN |
14 |
30,617,426 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00776:Itih4
|
APN |
14 |
30,611,561 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01309:Itih4
|
APN |
14 |
30,613,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01433:Itih4
|
APN |
14 |
30,617,405 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01598:Itih4
|
APN |
14 |
30,609,774 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02332:Itih4
|
APN |
14 |
30,609,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03075:Itih4
|
APN |
14 |
30,614,240 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03304:Itih4
|
APN |
14 |
30,620,006 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03353:Itih4
|
APN |
14 |
30,609,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03396:Itih4
|
APN |
14 |
30,609,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Itih4
|
UTSW |
14 |
30,623,127 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0304:Itih4
|
UTSW |
14 |
30,612,051 (GRCm39) |
splice site |
probably null |
|
|
R0477:Itih4
|
UTSW |
14 |
30,611,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0783:Itih4
|
UTSW |
14 |
30,617,380 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0882:Itih4
|
UTSW |
14 |
30,614,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1118:Itih4
|
UTSW |
14 |
30,618,124 (GRCm39) |
splice site |
probably benign |
|
|
R1126:Itih4
|
UTSW |
14 |
30,611,918 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1238:Itih4
|
UTSW |
14 |
30,609,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Itih4
|
UTSW |
14 |
30,614,610 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1573:Itih4
|
UTSW |
14 |
30,619,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1695:Itih4
|
UTSW |
14 |
30,613,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2085:Itih4
|
UTSW |
14 |
30,614,280 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2093:Itih4
|
UTSW |
14 |
30,613,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2213:Itih4
|
UTSW |
14 |
30,612,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2249:Itih4
|
UTSW |
14 |
30,621,351 (GRCm39) |
nonsense |
probably null |
|
|
R2267:Itih4
|
UTSW |
14 |
30,614,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Itih4
|
UTSW |
14 |
30,614,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Itih4
|
UTSW |
14 |
30,617,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3724:Itih4
|
UTSW |
14 |
30,614,541 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3859:Itih4
|
UTSW |
14 |
30,614,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4042:Itih4
|
UTSW |
14 |
30,616,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4044:Itih4
|
UTSW |
14 |
30,616,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4246:Itih4
|
UTSW |
14 |
30,613,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4422:Itih4
|
UTSW |
14 |
30,611,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4553:Itih4
|
UTSW |
14 |
30,622,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4581:Itih4
|
UTSW |
14 |
30,622,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4608:Itih4
|
UTSW |
14 |
30,623,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Itih4
|
UTSW |
14 |
30,623,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Itih4
|
UTSW |
14 |
30,611,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Itih4
|
UTSW |
14 |
30,611,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Itih4
|
UTSW |
14 |
30,614,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Itih4
|
UTSW |
14 |
30,614,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Itih4
|
UTSW |
14 |
30,612,612 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6014:Itih4
|
UTSW |
14 |
30,614,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6957:Itih4
|
UTSW |
14 |
30,614,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7012:Itih4
|
UTSW |
14 |
30,612,706 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7075:Itih4
|
UTSW |
14 |
30,614,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7195:Itih4
|
UTSW |
14 |
30,621,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Itih4
|
UTSW |
14 |
30,617,404 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7819:Itih4
|
UTSW |
14 |
30,623,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7967:Itih4
|
UTSW |
14 |
30,614,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Itih4
|
UTSW |
14 |
30,621,400 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8257:Itih4
|
UTSW |
14 |
30,609,825 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8534:Itih4
|
UTSW |
14 |
30,622,979 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8797:Itih4
|
UTSW |
14 |
30,618,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8886:Itih4
|
UTSW |
14 |
30,617,482 (GRCm39) |
nonsense |
probably null |
|
|
R9006:Itih4
|
UTSW |
14 |
30,612,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Itih4
|
UTSW |
14 |
30,618,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9377:Itih4
|
UTSW |
14 |
30,608,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Itih4
|
UTSW |
14 |
30,621,419 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTGTCCATCTCCTGGCTAG -3'
(R):5'- GCCAGAGTCATTAAGCTCGG -3'
Sequencing Primer
(F):5'- GCTCTCCAGAAAGAAGCAG -3'
(R):5'- AGAATAAAGCCCACTGTGAGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation