Incidental Mutation 'IGL00094:Itih4'
ID |
985 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00094
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
30608433-30623943 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30617426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 582
(Y582F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006703]
[ENSMUST00000078490]
[ENSMUST00000120269]
[ENSMUST00000168782]
|
AlphaFold |
A6X935 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006703
AA Change: Y582F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000006703 Gene: ENSMUSG00000021922 AA Change: Y582F
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: Y582F
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000077580 Gene: ENSMUSG00000021922 AA Change: Y582F
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 |
possibly damaging
Transcript: ENSMUST00000120269
AA Change: Y582F
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000112798 Gene: ENSMUSG00000021922 AA Change: Y582F
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 |
noncoding transcript
Transcript: ENSMUST00000134988
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168782
AA Change: Y582F
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000125920 Gene: ENSMUSG00000021922 AA Change: Y582F
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227899
|
Coding Region Coverage |
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
A |
5: 125,591,254 (GRCm39) |
N547K |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,247,443 (GRCm39) |
T2397A |
probably benign |
Het |
Abcc1 |
A |
G |
16: 14,288,398 (GRCm39) |
N1341S |
probably null |
Het |
Adcy9 |
T |
A |
16: 4,122,446 (GRCm39) |
I535L |
probably benign |
Het |
Akap6 |
A |
G |
12: 53,187,763 (GRCm39) |
S1726G |
possibly damaging |
Het |
Ap3d1 |
T |
C |
10: 80,577,813 (GRCm39) |
M5V |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,889,019 (GRCm39) |
N299K |
probably benign |
Het |
B3gnt2 |
C |
T |
11: 22,786,151 (GRCm39) |
V346I |
probably benign |
Het |
Ceacam14 |
G |
A |
7: 17,548,062 (GRCm39) |
V51I |
probably damaging |
Het |
Cfap69 |
T |
C |
5: 5,634,682 (GRCm39) |
D812G |
probably damaging |
Het |
Cfap97d1 |
A |
G |
11: 101,881,646 (GRCm39) |
E114G |
possibly damaging |
Het |
Chrna9 |
T |
C |
5: 66,126,600 (GRCm39) |
V118A |
probably benign |
Het |
Cpsf7 |
A |
G |
19: 10,517,151 (GRCm39) |
R418G |
probably damaging |
Het |
Csnk1g3 |
T |
C |
18: 54,052,075 (GRCm39) |
Y215H |
probably damaging |
Het |
Dcaf5 |
A |
C |
12: 80,386,097 (GRCm39) |
N676K |
probably benign |
Het |
Dld |
A |
T |
12: 31,385,576 (GRCm39) |
M255K |
probably benign |
Het |
Esr2 |
A |
T |
12: 76,180,670 (GRCm39) |
L417H |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,820,730 (GRCm39) |
S5488T |
probably benign |
Het |
Gatb |
A |
T |
3: 85,509,227 (GRCm39) |
I130L |
possibly damaging |
Het |
Gbp9 |
T |
C |
5: 105,229,130 (GRCm39) |
K506E |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,229,568 (GRCm39) |
N703S |
probably damaging |
Het |
Itgb3 |
T |
A |
11: 104,524,410 (GRCm39) |
V182E |
probably damaging |
Het |
Lancl2 |
T |
A |
6: 57,701,522 (GRCm39) |
|
probably benign |
Het |
Lgals3 |
A |
G |
14: 47,622,175 (GRCm39) |
K197R |
probably benign |
Het |
Lipe |
T |
C |
7: 25,082,977 (GRCm39) |
T767A |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,338,123 (GRCm39) |
D1219V |
probably damaging |
Het |
Lrriq3 |
T |
A |
3: 154,806,698 (GRCm39) |
C116S |
probably benign |
Het |
Mcm5 |
T |
G |
8: 75,851,573 (GRCm39) |
|
probably null |
Het |
Mtpn |
G |
T |
6: 35,499,711 (GRCm39) |
T31K |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,460,486 (GRCm39) |
Y1494N |
probably damaging |
Het |
Nbeal1 |
G |
T |
1: 60,274,350 (GRCm39) |
E498* |
probably null |
Het |
Nos1 |
T |
G |
5: 118,048,165 (GRCm39) |
S657A |
probably damaging |
Het |
Nr3c1 |
A |
T |
18: 39,561,661 (GRCm39) |
|
probably null |
Het |
Or12e7 |
T |
A |
2: 87,288,271 (GRCm39) |
V254E |
probably damaging |
Het |
Or13a17 |
A |
T |
7: 140,271,349 (GRCm39) |
H177L |
probably damaging |
Het |
Or4c127 |
T |
A |
2: 89,833,365 (GRCm39) |
I205N |
possibly damaging |
Het |
Or7g32 |
T |
A |
9: 19,408,155 (GRCm39) |
I37N |
probably damaging |
Het |
Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
Or8s8 |
T |
G |
15: 98,354,299 (GRCm39) |
V36G |
possibly damaging |
Het |
Or9i1 |
A |
T |
19: 13,839,150 (GRCm39) |
|
probably benign |
Het |
Osbp2 |
T |
G |
11: 3,661,848 (GRCm39) |
S735R |
probably benign |
Het |
Otop3 |
A |
T |
11: 115,235,279 (GRCm39) |
T304S |
probably benign |
Het |
Pcdhac2 |
A |
T |
18: 37,278,128 (GRCm39) |
L369F |
probably damaging |
Het |
Pick1 |
T |
C |
15: 79,131,457 (GRCm39) |
|
probably benign |
Het |
Prlhr |
A |
T |
19: 60,456,119 (GRCm39) |
V149E |
probably damaging |
Het |
Prss12 |
G |
A |
3: 123,280,598 (GRCm39) |
|
probably benign |
Het |
Rab19 |
A |
T |
6: 39,365,132 (GRCm39) |
|
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,262,776 (GRCm39) |
W5R |
probably damaging |
Het |
Rfx4 |
T |
A |
10: 84,676,063 (GRCm39) |
L44Q |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,407,661 (GRCm39) |
T760A |
probably damaging |
Het |
Shcbp1 |
A |
C |
8: 4,804,258 (GRCm39) |
Y145* |
probably null |
Het |
Snx31 |
T |
A |
15: 36,545,761 (GRCm39) |
|
probably null |
Het |
Spopl |
A |
T |
2: 23,427,643 (GRCm39) |
V163E |
possibly damaging |
Het |
Sqor |
T |
C |
2: 122,629,463 (GRCm39) |
I107T |
probably damaging |
Het |
Tcte1 |
T |
C |
17: 45,845,854 (GRCm39) |
F153L |
probably damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,123,238 (GRCm39) |
H121L |
probably damaging |
Het |
Tnip1 |
G |
T |
11: 54,831,643 (GRCm39) |
Y10* |
probably null |
Het |
Tnxb |
G |
T |
17: 34,904,603 (GRCm39) |
G1123C |
probably damaging |
Het |
Wdr62 |
T |
C |
7: 29,942,948 (GRCm39) |
E515G |
probably benign |
Het |
Zfand1 |
A |
T |
3: 10,413,590 (GRCm39) |
D32E |
probably null |
Het |
Zfp112 |
A |
C |
7: 23,821,668 (GRCm39) |
T3P |
probably damaging |
Het |
|
Other mutations in Itih4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R7231:Itih4
|
UTSW |
14 |
30,618,571 (GRCm39) |
missense |
probably benign |
0.17 |
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 |
|
|
Posted On |
2011-07-12 |