Incidental Mutation 'R8084:Itih4'
| ID |
629544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih4
|
| Ensembl Gene |
ENSMUSG00000021922 |
| Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
| Synonyms |
Itih-4 |
| MMRRC Submission |
067517-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8084 (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 30621400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 821
(N821I)
|
| 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: N781I
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: N781I
| 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: N820I
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: N820I
| 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: N821I
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: N821I
| 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: N804I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: N804I
| 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: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.2%
|
| Validation Efficiency |
100% (75/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
A |
2: 25,323,979 (GRCm39) |
Y190N |
probably benign |
Het |
| Acsl3 |
G |
A |
1: 78,669,844 (GRCm39) |
D238N |
probably damaging |
Het |
| Acss1 |
T |
A |
2: 150,484,701 (GRCm39) |
I181F |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,229,287 (GRCm39) |
I610V |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,894,834 (GRCm39) |
F256I |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,321,322 (GRCm39) |
S273P |
probably benign |
Het |
| Baz2b |
T |
G |
2: 59,792,580 (GRCm39) |
E516A |
probably benign |
Het |
| Bbs2 |
G |
T |
8: 94,814,056 (GRCm39) |
D187E |
probably damaging |
Het |
| Cacna1b |
T |
A |
2: 24,575,808 (GRCm39) |
M747L |
probably benign |
Het |
| Cacna2d4 |
C |
A |
6: 119,277,313 (GRCm39) |
D675E |
probably damaging |
Het |
| Calcr |
G |
A |
6: 3,687,615 (GRCm39) |
T461M |
probably benign |
Het |
| Catip |
A |
G |
1: 74,403,515 (GRCm39) |
K126E |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,328 (GRCm39) |
I273T |
probably benign |
Het |
| Clasp2 |
G |
A |
9: 113,676,823 (GRCm39) |
V185I |
probably benign |
Het |
| Cracr2a |
A |
G |
6: 127,616,135 (GRCm39) |
N370S |
probably benign |
Het |
| Crygc |
A |
T |
1: 65,110,981 (GRCm39) |
V102D |
probably benign |
Het |
| Ddx23 |
A |
G |
15: 98,556,145 (GRCm39) |
S58P |
unknown |
Het |
| Dlgap5 |
C |
T |
14: 47,645,298 (GRCm39) |
G281D |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,388,099 (GRCm39) |
Y3186F |
probably damaging |
Het |
| Dpp6 |
A |
C |
5: 27,836,397 (GRCm39) |
I296L |
probably benign |
Het |
| Elfn2 |
C |
T |
15: 78,556,660 (GRCm39) |
R629H |
probably damaging |
Het |
| Eml2 |
G |
T |
7: 18,915,149 (GRCm39) |
|
probably null |
Het |
| Fitm1 |
T |
A |
14: 55,813,906 (GRCm39) |
V134E |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,907,243 (GRCm38) |
N1272S |
probably benign |
Het |
| Fuca1 |
G |
A |
4: 135,662,114 (GRCm39) |
W347* |
probably null |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,486 (GRCm39) |
K1020R |
probably benign |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,327 (GRCm39) |
W149R |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,383,217 (GRCm39) |
S3629R |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,739,945 (GRCm39) |
L4731Q |
unknown |
Het |
| Loxhd1 |
A |
T |
18: 77,427,845 (GRCm39) |
I472F |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,339,713 (GRCm39) |
C1066F |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,114,637 (GRCm39) |
F114I |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,587,636 (GRCm39) |
E434G |
probably benign |
Het |
| N6amt1 |
T |
C |
16: 87,151,228 (GRCm39) |
F30L |
probably damaging |
Het |
| Naca |
G |
A |
10: 127,877,400 (GRCm39) |
V811I |
unknown |
Het |
| Nobox |
A |
C |
6: 43,282,101 (GRCm39) |
I324S |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,043,365 (GRCm39) |
S442P |
probably benign |
Het |
| Or6c2 |
A |
T |
10: 129,362,809 (GRCm39) |
T238S |
probably damaging |
Het |
| Osbpl1a |
A |
T |
18: 13,038,099 (GRCm39) |
L284Q |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,867,625 (GRCm39) |
Q336L |
probably benign |
Het |
| Pcdhb20 |
A |
C |
18: 37,639,226 (GRCm39) |
Y584S |
possibly damaging |
Het |
| Pgpep1l |
A |
T |
7: 67,887,519 (GRCm39) |
F27Y |
probably benign |
Het |
| Pik3cg |
T |
G |
12: 32,245,687 (GRCm39) |
I854L |
probably benign |
Het |
| Pot1a |
C |
T |
6: 25,771,535 (GRCm39) |
V229M |
possibly damaging |
Het |
| Prh1 |
C |
T |
6: 132,548,822 (GRCm39) |
P110S |
unknown |
Het |
| Prkag3 |
C |
T |
1: 74,786,366 (GRCm39) |
C193Y |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,360,539 (GRCm39) |
F69L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,444,294 (GRCm39) |
T1437A |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,427,317 (GRCm39) |
Y633H |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,590,701 (GRCm39) |
T475I |
possibly damaging |
Het |
| Retreg1 |
C |
A |
15: 25,969,885 (GRCm39) |
A130E |
probably benign |
Het |
| Rps6kb1 |
G |
T |
11: 86,426,262 (GRCm39) |
H56N |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,449,710 (GRCm39) |
H385R |
probably damaging |
Het |
| Sbpl |
T |
G |
17: 24,172,244 (GRCm39) |
N225T |
unknown |
Het |
| Scml4 |
T |
C |
10: 42,806,602 (GRCm39) |
|
probably null |
Het |
| Scrib |
G |
A |
15: 75,937,940 (GRCm39) |
T302M |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,717,915 (GRCm39) |
T1483I |
possibly damaging |
Het |
| Sh3bgrl3 |
A |
G |
4: 133,855,390 (GRCm39) |
S19P |
probably damaging |
Het |
| Slc10a6 |
C |
T |
5: 103,760,327 (GRCm39) |
V223I |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,532,589 (GRCm39) |
T950A |
probably benign |
Het |
| Spats2 |
A |
T |
15: 99,064,961 (GRCm39) |
D9V |
possibly damaging |
Het |
| Sphk1 |
A |
T |
11: 116,425,904 (GRCm39) |
|
probably null |
Het |
| Tex10 |
A |
T |
4: 48,431,066 (GRCm39) |
S897R |
probably benign |
Het |
| Tmco3 |
T |
C |
8: 13,353,873 (GRCm39) |
V395A |
probably damaging |
Het |
| Ttc7b |
A |
G |
12: 100,350,432 (GRCm39) |
L478P |
probably damaging |
Het |
| Ubac2 |
T |
C |
14: 122,220,717 (GRCm39) |
M184T |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,511,598 (GRCm39) |
S433P |
probably damaging |
Het |
| Zfp202 |
T |
A |
9: 40,122,538 (GRCm39) |
H433Q |
probably benign |
Het |
| Zfp526 |
G |
T |
7: 24,924,737 (GRCm39) |
R332L |
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 |
|
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 |
|
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'- GGCCATTGCTCTGAATTGAC -3'
(R):5'- TTAGTGATGAGGTCCAGGTCCC -3'
Sequencing Primer
(F):5'- GACTTTGAAATCTCTGGTCTGGCC -3'
(R):5'- TCAAGAGCAACAGGACATTACAATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation