Incidental Mutation 'R4044:Itih4'
ID |
314000 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itih4
|
Ensembl Gene |
ENSMUSG00000021922 |
Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
Synonyms |
Itih-4 |
MMRRC Submission |
040967-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4044 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
30608433-30623943 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30616995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 517
(N517I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125920
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006703]
[ENSMUST00000078490]
[ENSMUST00000120269]
[ENSMUST00000168782]
|
AlphaFold |
A6X935 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006703
AA Change: N517I
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000006703 Gene: ENSMUSG00000021922 AA Change: N517I
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 damaging
Transcript: ENSMUST00000078490
AA Change: N517I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000077580 Gene: ENSMUSG00000021922 AA Change: N517I
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: N517I
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112798 Gene: ENSMUSG00000021922 AA Change: N517I
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 damaging
Transcript: ENSMUST00000168782
AA Change: N517I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125920 Gene: ENSMUSG00000021922 AA Change: N517I
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
|
Meta Mutation Damage Score |
0.1181 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (45/45) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
T |
A |
9: 89,044,347 (GRCm39) |
|
noncoding transcript |
Het |
Ada |
A |
T |
2: 163,577,380 (GRCm39) |
I36N |
probably damaging |
Het |
Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
Atg7 |
T |
C |
6: 114,678,939 (GRCm39) |
V384A |
probably benign |
Het |
Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
Cep70 |
T |
A |
9: 99,144,662 (GRCm39) |
C66S |
possibly damaging |
Het |
D16Ertd472e |
A |
T |
16: 78,372,894 (GRCm39) |
D14E |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 66,024,461 (GRCm39) |
K278E |
probably benign |
Het |
Dsg1a |
C |
A |
18: 20,457,087 (GRCm39) |
N153K |
probably damaging |
Het |
Galnt5 |
T |
A |
2: 57,888,472 (GRCm39) |
I24N |
probably damaging |
Het |
Grid1 |
A |
T |
14: 35,172,358 (GRCm39) |
|
probably benign |
Het |
Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,839,810 (GRCm39) |
T706A |
possibly damaging |
Het |
Jam3 |
C |
A |
9: 27,013,159 (GRCm39) |
|
probably null |
Het |
Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
Klk1b4 |
A |
G |
7: 43,860,179 (GRCm39) |
M98V |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
Ksr2 |
C |
T |
5: 117,693,127 (GRCm39) |
R192* |
probably null |
Het |
L3mbtl4 |
T |
C |
17: 69,084,909 (GRCm39) |
S607P |
possibly damaging |
Het |
Map6 |
T |
C |
7: 98,917,256 (GRCm39) |
C10R |
probably damaging |
Het |
Myo3a |
A |
G |
2: 22,467,712 (GRCm39) |
E322G |
probably damaging |
Het |
Nell1 |
A |
G |
7: 49,869,367 (GRCm39) |
N214S |
probably damaging |
Het |
Npm3 |
T |
C |
19: 45,736,692 (GRCm39) |
E149G |
possibly damaging |
Het |
Or4k35 |
C |
T |
2: 111,099,927 (GRCm39) |
V262I |
probably benign |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Orc3 |
G |
A |
4: 34,587,055 (GRCm39) |
Q345* |
probably null |
Het |
Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
Pals1 |
G |
A |
12: 78,871,613 (GRCm39) |
E398K |
probably benign |
Het |
Pramel26 |
T |
A |
4: 143,538,170 (GRCm39) |
N267I |
probably benign |
Het |
Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
Reln |
A |
T |
5: 22,333,630 (GRCm39) |
V264D |
possibly damaging |
Het |
Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
Scaf1 |
G |
A |
7: 44,655,798 (GRCm39) |
|
probably benign |
Het |
Sncaip |
A |
G |
18: 53,040,475 (GRCm39) |
T890A |
probably benign |
Het |
Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
Thada |
A |
G |
17: 84,749,135 (GRCm39) |
V612A |
probably benign |
Het |
Tsnaxip1 |
G |
A |
8: 106,560,177 (GRCm39) |
|
probably null |
Het |
Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
Vrtn |
T |
C |
12: 84,695,844 (GRCm39) |
I198T |
probably damaging |
Het |
Wnt9b |
T |
C |
11: 103,622,824 (GRCm39) |
D193G |
probably damaging |
Het |
Znrd2 |
T |
C |
19: 5,780,431 (GRCm39) |
E189G |
probably damaging |
Het |
Zswim5 |
A |
G |
4: 116,843,899 (GRCm39) |
D979G |
probably damaging |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TACACAGCTGTCTTGCGAC -3'
(R):5'- CACTAAAAGGGCTCAATGGTG -3'
Sequencing Primer
(F):5'- GATCAGCTGCTAACATTTACCTGAC -3'
(R):5'- CTCAATGGTGTCACGTGAAAGCC -3'
|
Posted On |
2015-04-30 |