Incidental Mutation 'R2085:Itih4'
| ID |
230289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih4
|
| Ensembl Gene |
ENSMUSG00000021922 |
| Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
| Synonyms |
Itih-4 |
| MMRRC Submission |
040090-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30608433-30623943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30614280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 410
(Y410C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006703]
[ENSMUST00000078490]
[ENSMUST00000120269]
[ENSMUST00000168782]
|
| AlphaFold |
A6X935 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006703
AA Change: Y410C
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: Y410C
| 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: Y410C
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: Y410C
| 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: Y410C
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: Y410C
| 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: Y410C
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: Y410C
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
G |
T |
11: 69,791,198 (GRCm39) |
T127K |
possibly damaging |
Het |
| A2m |
T |
G |
6: 121,653,918 (GRCm39) |
I1417S |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,787,523 (GRCm39) |
I142T |
possibly damaging |
Het |
| Adprm |
T |
A |
11: 66,932,678 (GRCm39) |
D77V |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,062,240 (GRCm39) |
T3574I |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,178,908 (GRCm39) |
K2489R |
probably damaging |
Het |
| Bub1b |
A |
G |
2: 118,452,676 (GRCm39) |
E443G |
possibly damaging |
Het |
| Cd9 |
A |
T |
6: 125,440,734 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
G |
A |
9: 71,538,160 (GRCm39) |
T1194M |
probably damaging |
Het |
| Clec9a |
T |
C |
6: 129,387,274 (GRCm39) |
V43A |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
| Dpep3 |
A |
G |
8: 106,701,346 (GRCm39) |
V401A |
probably damaging |
Het |
| Duox2 |
G |
T |
2: 122,111,448 (GRCm39) |
H1417N |
probably damaging |
Het |
| Efhb |
C |
T |
17: 53,733,937 (GRCm39) |
|
probably null |
Het |
| F2r |
T |
C |
13: 95,741,418 (GRCm39) |
N39S |
probably benign |
Het |
| Fcamr |
T |
C |
1: 130,739,335 (GRCm39) |
F212L |
probably damaging |
Het |
| Galt |
G |
A |
4: 41,758,162 (GRCm39) |
R309Q |
probably damaging |
Het |
| Gas2l2 |
C |
A |
11: 83,318,209 (GRCm39) |
A167S |
probably benign |
Het |
| Hecw1 |
A |
T |
13: 14,438,672 (GRCm39) |
F904I |
possibly damaging |
Het |
| Herc2 |
C |
A |
7: 55,862,713 (GRCm39) |
H4127Q |
possibly damaging |
Het |
| Hipk1 |
T |
C |
3: 103,657,670 (GRCm39) |
T805A |
probably benign |
Het |
| Hivep1 |
A |
G |
13: 42,337,226 (GRCm39) |
E2435G |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,015,273 (GRCm39) |
C1813* |
probably null |
Het |
| Hyal4 |
C |
T |
6: 24,755,749 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,903 (GRCm39) |
Y311C |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,080,837 (GRCm39) |
C995* |
probably null |
Het |
| Lingo4 |
C |
A |
3: 94,309,552 (GRCm39) |
D163E |
probably damaging |
Het |
| Malt1 |
A |
G |
18: 65,606,218 (GRCm39) |
D642G |
probably damaging |
Het |
| Mbd4 |
T |
A |
6: 115,825,918 (GRCm39) |
M358L |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,169,323 (GRCm39) |
F1498Y |
possibly damaging |
Het |
| Me1 |
T |
C |
9: 86,495,607 (GRCm39) |
Q280R |
probably damaging |
Het |
| Megf9 |
T |
C |
4: 70,367,004 (GRCm39) |
H326R |
probably damaging |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Or13p10 |
T |
C |
4: 118,523,301 (GRCm39) |
S196P |
probably damaging |
Het |
| Or1e1 |
T |
C |
11: 73,245,247 (GRCm39) |
S223P |
possibly damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
| Or5h18 |
C |
T |
16: 58,848,232 (GRCm39) |
V13I |
probably benign |
Het |
| Or8b1c |
A |
G |
9: 38,384,223 (GRCm39) |
Y60C |
probably damaging |
Het |
| Polr2j |
T |
C |
5: 136,145,625 (GRCm39) |
F7L |
probably damaging |
Het |
| Ppp1r16a |
T |
A |
15: 76,577,796 (GRCm39) |
D303E |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,353,345 (GRCm39) |
E763G |
probably damaging |
Het |
| Rdh11 |
T |
C |
12: 79,229,556 (GRCm39) |
Y239C |
possibly damaging |
Het |
| Sdhaf3 |
A |
G |
6: 6,956,048 (GRCm39) |
R8G |
probably benign |
Het |
| Sgk2 |
T |
C |
2: 162,854,890 (GRCm39) |
S305P |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,788,587 (GRCm39) |
S1189G |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,790,023 (GRCm39) |
L581P |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,110 (GRCm39) |
Q111R |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,784,108 (GRCm39) |
R775C |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,489,622 (GRCm39) |
Q434L |
possibly damaging |
Het |
| Wdr46 |
G |
T |
17: 34,160,425 (GRCm39) |
E135* |
probably null |
Het |
| Zfp318 |
T |
A |
17: 46,720,590 (GRCm39) |
|
probably null |
Het |
| Zfp874a |
T |
A |
13: 67,590,967 (GRCm39) |
H239L |
probably damaging |
Het |
| Zscan29 |
A |
T |
2: 121,000,427 (GRCm39) |
L60* |
probably null |
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 |
|
|
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'- CCATTCCTGGGCATGTTAGAC -3'
(R):5'- CAAACGGGGTCTGCCTAATG -3'
Sequencing Primer
(F):5'- TTCCAGGCTGGCTGTGGAAC -3'
(R):5'- GGTCTGCCTAATGGTCTGCAC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation