Incidental Mutation 'R3934:Itih5'
| ID |
306923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih5
|
| Ensembl Gene |
ENSMUSG00000025780 |
| Gene Name |
inter-alpha-trypsin inhibitor, heavy chain 5 |
| Synonyms |
4631408O11Rik, 5430408M01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R3934 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
10158382-10261340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10250355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 685
(V685I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026886]
|
| AlphaFold |
Q8BJD1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026886
AA Change: V685I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: V685I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
Pfam:VIT
|
51 |
159 |
5.5e-27 |
PFAM |
|
VWA
|
293 |
476 |
5.84e-24 |
SMART |
|
Pfam:ITI_HC_C
|
716 |
909 |
1.7e-60 |
PFAM |
|
| Meta Mutation Damage Score |
0.2593 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
T |
A |
12: 18,584,082 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,405,432 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,623,166 (GRCm39) |
F3819S |
probably benign |
Het |
| Aig1 |
T |
C |
10: 13,677,656 (GRCm39) |
D112G |
probably damaging |
Het |
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| C2cd5 |
C |
T |
6: 142,987,106 (GRCm39) |
V499I |
possibly damaging |
Het |
| Capn11 |
A |
T |
17: 45,945,213 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,709,317 (GRCm39) |
V766A |
probably benign |
Het |
| Fastk |
G |
T |
5: 24,647,257 (GRCm39) |
S317* |
probably null |
Het |
| Fgfr1op2 |
T |
A |
6: 146,496,669 (GRCm39) |
|
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,458,164 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,270,496 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
A |
T |
7: 4,667,594 (GRCm39) |
M271K |
probably benign |
Het |
| Itgb6 |
G |
A |
2: 60,441,755 (GRCm39) |
T685M |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 34,130,901 (GRCm39) |
S421G |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,303,627 (GRCm39) |
T724A |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,061,321 (GRCm39) |
E176G |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,638,143 (GRCm39) |
M192K |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,526,169 (GRCm39) |
I401V |
probably benign |
Het |
| Prpf38b |
T |
C |
3: 108,811,741 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,886,938 (GRCm39) |
S330P |
probably damaging |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,439,174 (GRCm39) |
|
probably benign |
Het |
| Sod3 |
T |
C |
5: 52,525,987 (GRCm39) |
S229P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,149,494 (GRCm39) |
K958N |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,995,708 (GRCm39) |
|
probably null |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,628 (GRCm39) |
D223E |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,532,462 (GRCm39) |
S87T |
probably damaging |
Het |
| Wdr35 |
G |
T |
12: 9,058,014 (GRCm39) |
G513C |
probably damaging |
Het |
|
| Other mutations in Itih5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01481:Itih5
|
APN |
2 |
10,195,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Itih5
|
APN |
2 |
10,245,798 (GRCm39) |
missense |
probably benign |
|
|
IGL02370:Itih5
|
APN |
2 |
10,191,786 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03376:Itih5
|
APN |
2 |
10,211,584 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02991:Itih5
|
UTSW |
2 |
10,256,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0090:Itih5
|
UTSW |
2 |
10,169,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0096:Itih5
|
UTSW |
2 |
10,256,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0096:Itih5
|
UTSW |
2 |
10,256,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0158:Itih5
|
UTSW |
2 |
10,239,803 (GRCm39) |
splice site |
probably benign |
|
|
R0270:Itih5
|
UTSW |
2 |
10,256,075 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0276:Itih5
|
UTSW |
2 |
10,190,375 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0807:Itih5
|
UTSW |
2 |
10,253,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0810:Itih5
|
UTSW |
2 |
10,253,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0903:Itih5
|
UTSW |
2 |
10,253,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0905:Itih5
|
UTSW |
2 |
10,253,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0906:Itih5
|
UTSW |
2 |
10,253,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1104:Itih5
|
UTSW |
2 |
10,256,323 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1397:Itih5
|
UTSW |
2 |
10,245,618 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1671:Itih5
|
UTSW |
2 |
10,191,782 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1971:Itih5
|
UTSW |
2 |
10,243,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3684:Itih5
|
UTSW |
2 |
10,243,435 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3685:Itih5
|
UTSW |
2 |
10,243,435 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3831:Itih5
|
UTSW |
2 |
10,256,081 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4670:Itih5
|
UTSW |
2 |
10,195,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4803:Itih5
|
UTSW |
2 |
10,245,392 (GRCm39) |
missense |
probably benign |
|
|
R4950:Itih5
|
UTSW |
2 |
10,239,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5020:Itih5
|
UTSW |
2 |
10,245,315 (GRCm39) |
splice site |
probably null |
|
|
R5735:Itih5
|
UTSW |
2 |
10,245,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6454:Itih5
|
UTSW |
2 |
10,245,479 (GRCm39) |
missense |
probably benign |
|
|
R6662:Itih5
|
UTSW |
2 |
10,253,992 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7019:Itih5
|
UTSW |
2 |
10,195,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7068:Itih5
|
UTSW |
2 |
10,254,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7246:Itih5
|
UTSW |
2 |
10,191,873 (GRCm39) |
splice site |
probably null |
|
|
R7424:Itih5
|
UTSW |
2 |
10,250,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Itih5
|
UTSW |
2 |
10,243,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7597:Itih5
|
UTSW |
2 |
10,254,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Itih5
|
UTSW |
2 |
10,245,833 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8253:Itih5
|
UTSW |
2 |
10,243,406 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8349:Itih5
|
UTSW |
2 |
10,191,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8439:Itih5
|
UTSW |
2 |
10,239,869 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8449:Itih5
|
UTSW |
2 |
10,191,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8825:Itih5
|
UTSW |
2 |
10,195,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9110:Itih5
|
UTSW |
2 |
10,191,831 (GRCm39) |
missense |
probably benign |
|
|
R9582:Itih5
|
UTSW |
2 |
10,195,013 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9744:Itih5
|
UTSW |
2 |
10,256,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Itih5
|
UTSW |
2 |
10,243,370 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACCTTGGGCCGTCGTTAC -3'
(R):5'- CTGTAACTGGCCATTTAGAGAACG -3'
Sequencing Primer
(F):5'- GGGCCGTCGTTACTCCTCTG -3'
(R):5'- GGCCATTTAGAGAACGTCTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation