Incidental Mutation 'R4682:Itih1'
| ID |
350089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih1
|
| Ensembl Gene |
ENSMUSG00000006529 |
| Gene Name |
inter-alpha trypsin inhibitor, heavy chain 1 |
| Synonyms |
Intin1, inter-alpha (globulin) inhibitor, H1 polypeptide, Itih-1 |
| MMRRC Submission |
041934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4682 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30651137-30665246 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30659800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 279
(A279S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006704]
[ENSMUST00000163118]
|
| AlphaFold |
Q61702 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006704
AA Change: A283S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: A283S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
VIT
|
34 |
167 |
6e-79 |
SMART |
|
low complexity region
|
240 |
251 |
N/A |
INTRINSIC |
|
VWA
|
291 |
472 |
2.1e-32 |
SMART |
|
Blast:VWA
|
528 |
577 |
5e-21 |
BLAST |
|
Pfam:ITI_HC_C
|
706 |
892 |
2.1e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163118
AA Change: A279S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: A279S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
VIT
|
34 |
163 |
2.44e-80 |
SMART |
|
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
VWA
|
287 |
468 |
3.43e-30 |
SMART |
|
Blast:VWA
|
524 |
573 |
5e-21 |
BLAST |
|
Pfam:ITI_HC_C
|
701 |
888 |
5.3e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227938
|
| Meta Mutation Damage Score |
0.4912 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (45/48) |
| MGI Phenotype |
FUNCTION: This gene encodes a heavy chain of inter-alpha trypsin inhibitor (IaI) family of plasma serine protease inhibitors. IaI proteins are protein-glycosaminoglycan-protein complexes comprised of two heavy chains and a light chain. The encoded protein covalently associates with the light chain via a chondroitin sulfate moiety. Intravenous administration of the encoded protein improved survival of mice after infection with Escherichia coli. This gene is located adjacent to two other IaI heavy chain genes. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature protein. [provided by RefSeq, Oct 2015]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,505,925 (GRCm39) |
V637A |
probably benign |
Het |
| Aurkc |
G |
A |
7: 6,998,538 (GRCm39) |
V33M |
probably null |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,898,961 (GRCm39) |
S810R |
probably benign |
Het |
| Dpm2 |
C |
T |
2: 32,462,290 (GRCm39) |
|
probably benign |
Het |
| Fgb |
A |
T |
3: 82,950,572 (GRCm39) |
F394Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,346,219 (GRCm39) |
Y1576C |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,815,152 (GRCm39) |
M1V |
probably null |
Het |
| Grhl1 |
T |
G |
12: 24,658,432 (GRCm39) |
V359G |
probably benign |
Het |
| Hdac5 |
T |
C |
11: 102,097,456 (GRCm39) |
S158G |
probably null |
Het |
| Hdgfl1 |
T |
C |
13: 26,953,230 (GRCm39) |
E281G |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
| Inpp1 |
T |
C |
1: 52,833,760 (GRCm39) |
N112S |
probably benign |
Het |
| Mad1l1 |
A |
T |
5: 140,286,007 (GRCm39) |
M296K |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,179,097 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
A |
7: 100,198,576 (GRCm39) |
D192V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,030,279 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,108,879 (GRCm39) |
T731A |
noncoding transcript |
Het |
| Or4d6 |
T |
C |
19: 12,086,049 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,977,086 (GRCm39) |
D128G |
possibly damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,905,477 (GRCm39) |
T11A |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,143,791 (GRCm39) |
Y112N |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,377,362 (GRCm39) |
V442E |
probably benign |
Het |
| Slc36a4 |
C |
A |
9: 15,638,144 (GRCm39) |
S190* |
probably null |
Het |
| Slc46a1 |
A |
G |
11: 78,359,502 (GRCm39) |
K378R |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,150 (GRCm39) |
V267A |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,034,666 (GRCm39) |
S533T |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,111 (GRCm39) |
M103K |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,006 (GRCm39) |
Y429* |
probably null |
Het |
| Traf7 |
T |
C |
17: 24,732,348 (GRCm39) |
K159E |
probably damaging |
Het |
| Zfp111 |
T |
G |
7: 23,898,563 (GRCm39) |
K349N |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,376 (GRCm39) |
Y1114C |
probably damaging |
Het |
|
| Other mutations in Itih1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Itih1
|
APN |
14 |
30,651,778 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL00227:Itih1
|
APN |
14 |
30,664,846 (GRCm39) |
splice site |
probably null |
|
|
IGL00902:Itih1
|
APN |
14 |
30,654,439 (GRCm39) |
splice site |
probably benign |
|
|
IGL02194:Itih1
|
APN |
14 |
30,652,322 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02221:Itih1
|
APN |
14 |
30,651,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02292:Itih1
|
APN |
14 |
30,655,312 (GRCm39) |
splice site |
probably null |
|
|
IGL02733:Itih1
|
APN |
14 |
30,658,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02928:Itih1
|
APN |
14 |
30,659,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03064:Itih1
|
APN |
14 |
30,663,514 (GRCm39) |
missense |
probably benign |
0.09 |
|
1mM(1):Itih1
|
UTSW |
14 |
30,651,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:Itih1
|
UTSW |
14 |
30,662,820 (GRCm39) |
splice site |
probably benign |
|
|
R0647:Itih1
|
UTSW |
14 |
30,657,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0662:Itih1
|
UTSW |
14 |
30,655,317 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0744:Itih1
|
UTSW |
14 |
30,663,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Itih1
|
UTSW |
14 |
30,663,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1070:Itih1
|
UTSW |
14 |
30,664,413 (GRCm39) |
splice site |
probably benign |
|
|
R1397:Itih1
|
UTSW |
14 |
30,651,862 (GRCm39) |
splice site |
probably benign |
|
|
R1797:Itih1
|
UTSW |
14 |
30,651,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Itih1
|
UTSW |
14 |
30,654,244 (GRCm39) |
missense |
probably benign |
|
|
R1964:Itih1
|
UTSW |
14 |
30,651,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Itih1
|
UTSW |
14 |
30,663,941 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2086:Itih1
|
UTSW |
14 |
30,659,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Itih1
|
UTSW |
14 |
30,660,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Itih1
|
UTSW |
14 |
30,655,432 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2225:Itih1
|
UTSW |
14 |
30,651,534 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3836:Itih1
|
UTSW |
14 |
30,657,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3837:Itih1
|
UTSW |
14 |
30,657,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3839:Itih1
|
UTSW |
14 |
30,657,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4388:Itih1
|
UTSW |
14 |
30,663,512 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4504:Itih1
|
UTSW |
14 |
30,657,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Itih1
|
UTSW |
14 |
30,651,788 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4856:Itih1
|
UTSW |
14 |
30,658,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4886:Itih1
|
UTSW |
14 |
30,658,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5169:Itih1
|
UTSW |
14 |
30,655,403 (GRCm39) |
nonsense |
probably null |
|
|
R5773:Itih1
|
UTSW |
14 |
30,657,356 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5875:Itih1
|
UTSW |
14 |
30,651,487 (GRCm39) |
missense |
probably benign |
|
|
R6048:Itih1
|
UTSW |
14 |
30,651,780 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6077:Itih1
|
UTSW |
14 |
30,651,833 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6175:Itih1
|
UTSW |
14 |
30,653,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Itih1
|
UTSW |
14 |
30,653,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6664:Itih1
|
UTSW |
14 |
30,655,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Itih1
|
UTSW |
14 |
30,651,798 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7059:Itih1
|
UTSW |
14 |
30,653,266 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7168:Itih1
|
UTSW |
14 |
30,656,064 (GRCm39) |
missense |
probably null |
0.98 |
|
R7408:Itih1
|
UTSW |
14 |
30,665,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7458:Itih1
|
UTSW |
14 |
30,665,223 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7717:Itih1
|
UTSW |
14 |
30,653,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8016:Itih1
|
UTSW |
14 |
30,657,251 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8035:Itih1
|
UTSW |
14 |
30,664,482 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8111:Itih1
|
UTSW |
14 |
30,654,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8131:Itih1
|
UTSW |
14 |
30,663,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Itih1
|
UTSW |
14 |
30,659,047 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8769:Itih1
|
UTSW |
14 |
30,655,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Itih1
|
UTSW |
14 |
30,657,866 (GRCm39) |
splice site |
probably benign |
|
|
R8960:Itih1
|
UTSW |
14 |
30,655,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Itih1
|
UTSW |
14 |
30,652,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9065:Itih1
|
UTSW |
14 |
30,657,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Itih1
|
UTSW |
14 |
30,652,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9296:Itih1
|
UTSW |
14 |
30,653,251 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9525:Itih1
|
UTSW |
14 |
30,658,711 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9654:Itih1
|
UTSW |
14 |
30,664,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Itih1
|
UTSW |
14 |
30,651,529 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCGTTGATTCCCCAGCAG -3'
(R):5'- GGAGAATTCAAGGTGACCTACG -3'
Sequencing Primer
(F):5'- AGCAGGGATTTCCAGTTACATCC -3'
(R):5'- TCAAGGTGACCTACGATGTCAATCG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation