Incidental Mutation 'R7195:Itih4'
| ID |
559881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih4
|
| Ensembl Gene |
ENSMUSG00000021922 |
| Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
| Synonyms |
Itih-4 |
| MMRRC Submission |
045336-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7195 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30608433-30623943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30621432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 832
(S832P)
|
| 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: S792P
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: S792P
| 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: S831P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: S831P
| 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 damaging
Transcript: ENSMUST00000120269
AA Change: S832P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: S832P
| 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 damaging
Transcript: ENSMUST00000168782
AA Change: S815P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: S815P
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
C |
11: 58,179,242 (GRCm39) |
|
probably null |
Het |
| Abca2 |
A |
G |
2: 25,332,088 (GRCm39) |
D1400G |
probably benign |
Het |
| Actl11 |
A |
T |
9: 107,806,069 (GRCm39) |
K131* |
probably null |
Het |
| Adam39 |
A |
T |
8: 41,277,812 (GRCm39) |
R68* |
probably null |
Het |
| Akap7 |
A |
T |
10: 25,147,405 (GRCm39) |
N108K |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,338,721 (GRCm39) |
A14S |
probably benign |
Het |
| Ccdc141 |
T |
G |
2: 76,879,927 (GRCm39) |
N632T |
probably benign |
Het |
| Ccm2 |
T |
C |
11: 6,546,302 (GRCm39) |
S435P |
probably damaging |
Het |
| Cd36 |
A |
G |
5: 18,019,187 (GRCm39) |
L178P |
probably damaging |
Het |
| Cd7 |
T |
C |
11: 120,929,075 (GRCm39) |
I59V |
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,135,204 (GRCm39) |
S32T |
probably benign |
Het |
| Cep19 |
A |
G |
16: 31,925,904 (GRCm39) |
D104G |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,510,753 (GRCm39) |
P68S |
unknown |
Het |
| Col20a1 |
A |
G |
2: 180,649,024 (GRCm39) |
H1011R |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,504,463 (GRCm39) |
D1864V |
|
Het |
| D7Ertd443e |
A |
G |
7: 133,896,851 (GRCm39) |
V513A |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,818,162 (GRCm39) |
P228L |
probably damaging |
Het |
| Fam243 |
C |
T |
16: 92,118,037 (GRCm39) |
V84M |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,131 (GRCm39) |
R97G |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,540,386 (GRCm39) |
V768M |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,288,050 (GRCm39) |
N96Y |
probably damaging |
Het |
| Gm7168 |
T |
A |
17: 14,169,622 (GRCm39) |
Y330N |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,424,203 (GRCm39) |
N683S |
unknown |
Het |
| Ice2 |
C |
T |
9: 69,335,782 (GRCm39) |
P922S |
possibly damaging |
Het |
| Iglv2 |
A |
G |
16: 19,079,260 (GRCm39) |
V81A |
not run |
Het |
| Irs1 |
A |
G |
1: 82,265,177 (GRCm39) |
I1013T |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,517,513 (GRCm39) |
Y388N |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,348,601 (GRCm39) |
S2698L |
unknown |
Het |
| Map4k4 |
T |
C |
1: 40,058,829 (GRCm39) |
Y1008H |
possibly damaging |
Het |
| Mdn1 |
G |
T |
4: 32,701,823 (GRCm39) |
G1519W |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,747,809 (GRCm39) |
D653E |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,208,733 (GRCm39) |
E48G |
probably damaging |
Het |
| Nup188 |
G |
A |
2: 30,231,842 (GRCm39) |
|
probably null |
Het |
| Or1p1b |
G |
T |
11: 74,130,394 (GRCm39) |
M1I |
probably null |
Het |
| Or3a4 |
T |
A |
11: 73,945,223 (GRCm39) |
M121L |
probably damaging |
Het |
| Or4c110 |
G |
A |
2: 88,832,075 (GRCm39) |
L186F |
|
Het |
| Or51a39 |
A |
G |
7: 102,362,873 (GRCm39) |
V249A |
possibly damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,574 (GRCm39) |
V251D |
probably damaging |
Het |
| Or7h8 |
A |
G |
9: 20,123,840 (GRCm39) |
N65S |
probably damaging |
Het |
| Oxct1 |
T |
C |
15: 4,158,383 (GRCm39) |
V439A |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,341 (GRCm39) |
G13W |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,509,237 (GRCm39) |
V230A |
probably benign |
Het |
| Pop1 |
C |
T |
15: 34,510,525 (GRCm39) |
S439L |
probably damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,929,533 (GRCm39) |
H83Q |
probably benign |
Het |
| Qrfp |
C |
T |
2: 31,698,704 (GRCm39) |
R76H |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,246,139 (GRCm39) |
V197A |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,047 (GRCm39) |
N591D |
possibly damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,807 (GRCm39) |
Q80K |
possibly damaging |
Het |
| Spock1 |
C |
T |
13: 58,055,316 (GRCm39) |
G29D |
possibly damaging |
Het |
| Sprr1a |
G |
T |
3: 92,391,674 (GRCm39) |
P109Q |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,904,309 (GRCm39) |
F239L |
probably damaging |
Het |
| Tbx3 |
A |
G |
5: 119,813,648 (GRCm39) |
Y248C |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,266,637 (GRCm39) |
L217P |
probably damaging |
Het |
| Ubxn11 |
A |
C |
4: 133,853,726 (GRCm39) |
I398L |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,884 (GRCm39) |
S40T |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,023,900 (GRCm39) |
S894G |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,592,347 (GRCm39) |
|
probably null |
Het |
| Vps13c |
G |
A |
9: 67,853,107 (GRCm39) |
G2400D |
possibly damaging |
Het |
| Vps8 |
T |
C |
16: 21,275,032 (GRCm39) |
Y197H |
probably damaging |
Het |
| Wdr91 |
T |
C |
6: 34,866,209 (GRCm39) |
N486D |
possibly damaging |
Het |
| Wwp1 |
A |
G |
4: 19,627,908 (GRCm39) |
I695T |
possibly damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,382,547 (GRCm39) |
D133G |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,335,200 (GRCm39) |
I307V |
unknown |
Het |
| Zfp933 |
G |
A |
4: 147,910,636 (GRCm39) |
T320I |
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 |
|
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'- GGGCCATTGCTCTGAATTGAC -3'
(R):5'- TAGTGATGAGGTCCAGGTCC -3'
Sequencing Primer
(F):5'- GACTTTGAAATCTCTGGTCTGGCC -3'
(R):5'- GACAGGGCCTCAAGAGCAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation