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 |
30608433-30623943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30623127 bp (GRCm39)
|
| 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: 121,898,965 (GRCm39) |
I649S |
probably damaging |
Het |
| Abcc2 |
T |
A |
19: 43,792,221 (GRCm39) |
L334* |
probably null |
Het |
| Adam28 |
A |
T |
14: 68,872,325 (GRCm39) |
S306T |
probably benign |
Het |
| Adam34 |
T |
A |
8: 44,104,349 (GRCm39) |
D432V |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,050,264 (GRCm39) |
Y723C |
probably benign |
Het |
| Adgre5 |
T |
A |
8: 84,451,089 (GRCm39) |
M713L |
probably benign |
Het |
| Aebp2 |
C |
A |
6: 140,583,412 (GRCm39) |
C295* |
probably null |
Het |
| Amn1 |
G |
T |
6: 149,072,357 (GRCm39) |
Q127K |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,046,383 (GRCm39) |
V314M |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,488,495 (GRCm39) |
E847G |
probably benign |
Het |
| Atp2b1 |
A |
G |
10: 98,852,840 (GRCm39) |
E1039G |
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,718,266 (GRCm39) |
Y292C |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,214,105 (GRCm39) |
T94A |
probably damaging |
Het |
| Ciart |
T |
A |
3: 95,787,788 (GRCm39) |
K182M |
probably damaging |
Het |
| Col1a2 |
A |
C |
6: 4,527,079 (GRCm39) |
S603R |
possibly damaging |
Het |
| Cspp1 |
C |
A |
1: 10,145,097 (GRCm39) |
S298R |
possibly damaging |
Het |
| Cul7 |
T |
A |
17: 46,962,746 (GRCm39) |
C126S |
probably damaging |
Het |
| Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
| Cypt4 |
G |
C |
9: 24,536,770 (GRCm39) |
A87P |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,618,125 (GRCm39) |
V224M |
probably benign |
Het |
| Dlgap5 |
TTC |
T |
14: 47,638,979 (GRCm39) |
|
probably null |
Het |
| Dock1 |
A |
G |
7: 134,754,029 (GRCm39) |
K1602R |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,647,562 (GRCm39) |
I241V |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,752,489 (GRCm39) |
T975A |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,388,121 (GRCm39) |
T660A |
probably benign |
Het |
| Fbxw7 |
G |
A |
3: 84,872,621 (GRCm39) |
V268M |
|
Het |
| Gart |
A |
G |
16: 91,433,426 (GRCm39) |
F289S |
probably damaging |
Het |
| Gmcl1 |
G |
T |
6: 86,681,520 (GRCm39) |
N391K |
probably benign |
Het |
| Greb1l |
A |
C |
18: 10,533,031 (GRCm39) |
Q975P |
probably damaging |
Het |
| Greb1l |
G |
T |
18: 10,533,032 (GRCm39) |
Q975H |
probably benign |
Het |
| Grik5 |
C |
A |
7: 24,710,119 (GRCm39) |
R872L |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,582,921 (GRCm39) |
I218N |
probably damaging |
Het |
| Hook1 |
A |
T |
4: 95,903,089 (GRCm39) |
D526V |
probably damaging |
Het |
| Ifna4 |
A |
T |
4: 88,760,191 (GRCm39) |
N32Y |
probably damaging |
Het |
| Ighg2b |
T |
A |
12: 113,270,492 (GRCm39) |
N213Y |
unknown |
Het |
| Itpr2 |
A |
T |
6: 146,274,671 (GRCm39) |
F837Y |
probably damaging |
Het |
| Kif3a |
T |
C |
11: 53,469,941 (GRCm39) |
V147A |
probably benign |
Het |
| Klra9 |
T |
A |
6: 130,168,284 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
G |
T |
16: 19,492,210 (GRCm39) |
Q345K |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,807,822 (GRCm39) |
E1188K |
probably damaging |
Het |
| Med1 |
T |
A |
11: 98,049,243 (GRCm39) |
I518L |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,205,447 (GRCm39) |
T242A |
probably damaging |
Het |
| Nemp1 |
T |
A |
10: 127,532,123 (GRCm39) |
F392Y |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,951,802 (GRCm39) |
G3984W |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,960,660 (GRCm39) |
H3217L |
possibly damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,823 (GRCm39) |
M74T |
probably benign |
Het |
| Or13j1 |
A |
G |
4: 43,706,464 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or2d3b |
C |
T |
7: 106,514,136 (GRCm39) |
H244Y |
probably damaging |
Het |
| Or2d3c |
T |
C |
7: 106,526,049 (GRCm39) |
I206V |
probably benign |
Het |
| Or5l14 |
C |
T |
2: 87,792,802 (GRCm39) |
V145M |
possibly damaging |
Het |
| P4ha1 |
G |
T |
10: 59,186,294 (GRCm39) |
A258S |
probably benign |
Het |
| Parn |
T |
C |
16: 13,425,145 (GRCm39) |
I423V |
probably benign |
Het |
| Pcdh20 |
C |
A |
14: 88,704,744 (GRCm39) |
S852I |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,722,784 (GRCm39) |
|
probably null |
Het |
| Pcsk1 |
A |
T |
13: 75,260,769 (GRCm39) |
I331F |
probably damaging |
Het |
| Pkd1l2 |
G |
T |
8: 117,748,761 (GRCm39) |
S1803R |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,387,433 (GRCm39) |
N1792K |
probably damaging |
Het |
| Plekhg1 |
C |
A |
10: 3,913,469 (GRCm39) |
Q1119K |
|
Het |
| Prr30 |
T |
A |
14: 101,436,371 (GRCm39) |
T64S |
probably benign |
Het |
| Rec114 |
T |
C |
9: 58,567,653 (GRCm39) |
N111S |
probably benign |
Het |
| Reck |
G |
A |
4: 43,895,850 (GRCm39) |
V79I |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,386,231 (GRCm39) |
F276L |
probably damaging |
Het |
| Rgs6 |
T |
C |
12: 83,138,553 (GRCm39) |
Y296H |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,197,793 (GRCm39) |
R2149G |
probably benign |
Het |
| Slc20a2 |
C |
A |
8: 23,025,398 (GRCm39) |
F33L |
probably damaging |
Het |
| Spopl |
T |
A |
2: 23,435,461 (GRCm39) |
T25S |
probably damaging |
Het |
| Srcap |
A |
T |
7: 127,148,492 (GRCm39) |
I1947F |
possibly damaging |
Het |
| Srek1 |
A |
C |
13: 103,881,291 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
C |
T |
6: 142,774,978 (GRCm39) |
W200* |
probably null |
Het |
| Tas2r106 |
A |
T |
6: 131,655,465 (GRCm39) |
F129I |
possibly damaging |
Het |
| Tbrg4 |
A |
T |
11: 6,570,857 (GRCm39) |
L205Q |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,353,187 (GRCm39) |
R876S |
unknown |
Het |
| Thap12 |
G |
T |
7: 98,364,245 (GRCm39) |
A138S |
probably benign |
Het |
| Tjp1 |
C |
T |
7: 64,993,362 (GRCm39) |
|
probably null |
Het |
| Traf4 |
G |
A |
11: 78,052,360 (GRCm39) |
P95L |
probably benign |
Het |
| Trappc9 |
ATCTC |
ATCTCTC |
15: 72,903,447 (GRCm39) |
|
probably null |
Het |
| Usp20 |
G |
A |
2: 30,907,498 (GRCm39) |
V677M |
possibly damaging |
Het |
| Usp50 |
C |
A |
2: 126,625,236 (GRCm39) |
|
probably benign |
Het |
| Vmn1r21 |
T |
C |
6: 57,821,307 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,363,669 (GRCm39) |
H408L |
probably benign |
Het |
| Zfp266 |
T |
C |
9: 20,417,299 (GRCm39) |
T30A |
probably benign |
Het |
| Zfp536 |
T |
C |
7: 37,179,182 (GRCm39) |
H1141R |
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 |
|
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 |
|
|
| 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