Incidental Mutation 'R6199:Izumo4'
| ID |
503108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Izumo4
|
| Ensembl Gene |
ENSMUSG00000055862 |
| Gene Name |
IZUMO family member 4 |
| Synonyms |
9030607L17Rik |
| MMRRC Submission |
044339-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6199 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80538018-80541207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80538707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 53
(G53D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003438]
[ENSMUST00000020420]
[ENSMUST00000218090]
[ENSMUST00000218184]
|
| AlphaFold |
D3Z690 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003438
|
| SMART Domains |
Protein: ENSMUSP00000003438
Gene: ENSMUSG00000003348
| Domain | Start | End | E-Value | Type |
|---|
|
Mob1_phocein
|
34 |
208 |
6.02e-107 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020420
|
| SMART Domains |
Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
32 |
583 |
6.6e-153 |
PFAM |
|
Pfam:Cnd1
|
130 |
292 |
2.1e-8 |
PFAM |
|
low complexity region
|
629 |
642 |
N/A |
INTRINSIC |
|
BLVR
|
660 |
803 |
5.3e-80 |
SMART |
|
low complexity region
|
835 |
861 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
881 |
N/A |
INTRINSIC |
|
coiled coil region
|
910 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
964 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000095426
AA Change: G50D
|
| SMART Domains |
Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862
AA Change: G50D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IZUMO
|
26 |
167 |
1.1e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218058
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218090
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218184
AA Change: G53D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219816
|
| Meta Mutation Damage Score |
0.3178 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
T |
12: 88,407,887 (GRCm39) |
D206V |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,797,655 (GRCm39) |
D685V |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,809,019 (GRCm39) |
S77P |
probably benign |
Het |
| Ccdc194 |
T |
C |
8: 71,978,109 (GRCm39) |
N83D |
probably benign |
Het |
| Ceacam5 |
A |
T |
7: 17,448,810 (GRCm39) |
T59S |
probably benign |
Het |
| Cemip2 |
G |
A |
19: 21,822,186 (GRCm39) |
G1194S |
probably benign |
Het |
| Ces1e |
A |
C |
8: 93,944,163 (GRCm39) |
F218L |
probably damaging |
Het |
| Cilk1 |
T |
C |
9: 78,071,921 (GRCm39) |
V531A |
probably benign |
Het |
| Cps1 |
TGTCCATTGGTC |
TGTC |
1: 67,201,774 (GRCm39) |
|
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Eftud2 |
A |
T |
11: 102,730,883 (GRCm39) |
V843E |
probably damaging |
Het |
| Fuca2 |
G |
T |
10: 13,381,783 (GRCm39) |
W232L |
probably damaging |
Het |
| Gdf7 |
T |
C |
12: 8,348,832 (GRCm39) |
D155G |
unknown |
Het |
| Ggcx |
G |
T |
6: 72,407,122 (GRCm39) |
V753F |
possibly damaging |
Het |
| Ghrhr |
A |
T |
6: 55,356,173 (GRCm39) |
T89S |
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,619 (GRCm39) |
K353R |
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,841,527 (GRCm39) |
L144P |
probably damaging |
Het |
| Gsdmc2 |
A |
G |
15: 63,696,962 (GRCm39) |
I403T |
probably benign |
Het |
| H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
| Igsf5 |
C |
T |
16: 96,222,939 (GRCm39) |
S61L |
possibly damaging |
Het |
| Insc |
A |
T |
7: 114,390,401 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
G |
A |
11: 78,911,267 (GRCm39) |
P693S |
possibly damaging |
Het |
| Lgals4 |
G |
A |
7: 28,535,317 (GRCm39) |
R27H |
probably damaging |
Het |
| Lpcat2b |
A |
G |
5: 107,581,171 (GRCm39) |
R167G |
probably benign |
Het |
| Man1a |
C |
T |
10: 53,890,552 (GRCm39) |
V288I |
possibly damaging |
Het |
| Map2 |
T |
G |
1: 66,464,637 (GRCm39) |
S1676A |
probably damaging |
Het |
| Mbl1 |
G |
T |
14: 40,875,572 (GRCm39) |
V9F |
unknown |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,051 (GRCm39) |
C241S |
probably benign |
Het |
| Mrpl2 |
T |
C |
17: 46,960,012 (GRCm39) |
L227P |
probably damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,335,685 (GRCm39) |
V253E |
probably damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,454 (GRCm39) |
H464R |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,024,398 (GRCm39) |
M490K |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,359,911 (GRCm39) |
V1268A |
probably damaging |
Het |
| Or6b2b |
A |
T |
1: 92,419,264 (GRCm39) |
I71N |
possibly damaging |
Het |
| Or8b12c |
C |
A |
9: 37,716,177 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
A |
T |
4: 99,836,151 (GRCm39) |
I412F |
probably damaging |
Het |
| Plaur |
A |
T |
7: 24,164,628 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
| Ppm1h |
G |
A |
10: 122,756,644 (GRCm39) |
V430M |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Prph |
A |
G |
15: 98,954,713 (GRCm39) |
T35A |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,510,085 (GRCm39) |
G780S |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,721,908 (GRCm39) |
N260K |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,470 (GRCm39) |
D1520G |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,376,686 (GRCm39) |
I192L |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,874,993 (GRCm39) |
D103G |
probably damaging |
Het |
| Smndc1 |
G |
A |
19: 53,372,063 (GRCm39) |
T117M |
probably benign |
Het |
| Tesk2 |
A |
G |
4: 116,649,367 (GRCm39) |
D159G |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,644 (GRCm39) |
N853K |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly damaging |
Het |
|
| Other mutations in Izumo4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02850:Izumo4
|
APN |
10 |
80,540,032 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03019:Izumo4
|
APN |
10 |
80,539,680 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03391:Izumo4
|
APN |
10 |
80,540,947 (GRCm39) |
missense |
probably damaging |
0.97 |
|
F5770:Izumo4
|
UTSW |
10 |
80,539,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02835:Izumo4
|
UTSW |
10 |
80,540,959 (GRCm39) |
missense |
probably benign |
|
|
R0304:Izumo4
|
UTSW |
10 |
80,538,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Izumo4
|
UTSW |
10 |
80,538,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Izumo4
|
UTSW |
10 |
80,538,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0498:Izumo4
|
UTSW |
10 |
80,540,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1822:Izumo4
|
UTSW |
10 |
80,539,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Izumo4
|
UTSW |
10 |
80,539,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Izumo4
|
UTSW |
10 |
80,538,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2237:Izumo4
|
UTSW |
10 |
80,538,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5288:Izumo4
|
UTSW |
10 |
80,538,639 (GRCm39) |
nonsense |
probably null |
|
|
R5543:Izumo4
|
UTSW |
10 |
80,538,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Izumo4
|
UTSW |
10 |
80,539,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6222:Izumo4
|
UTSW |
10 |
80,538,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Izumo4
|
UTSW |
10 |
80,538,551 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R8264:Izumo4
|
UTSW |
10 |
80,538,572 (GRCm39) |
missense |
|
|
|
V7580:Izumo4
|
UTSW |
10 |
80,539,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
V7581:Izumo4
|
UTSW |
10 |
80,539,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
V7582:Izumo4
|
UTSW |
10 |
80,539,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
V7583:Izumo4
|
UTSW |
10 |
80,539,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGGAAGCATGATCAGGCC -3'
(R):5'- TATAGCTTCTTCCGGGCTAAGG -3'
Sequencing Primer
(F):5'- ATGATCAGGCCCGGGCAG -3'
(R):5'- CGGGCTAAGGGCAGGAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation