Incidental Mutation 'R7717:D230025D16Rik'
ID |
594981 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D230025D16Rik
|
Ensembl Gene |
ENSMUSG00000031889 |
Gene Name |
RIKEN cDNA D230025D16 gene |
Synonyms |
Lin10 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R7717 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
105225145-105253053 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 105251604 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 397
(Q397K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034361
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034361]
[ENSMUST00000093217]
[ENSMUST00000124113]
[ENSMUST00000136822]
[ENSMUST00000141957]
[ENSMUST00000161745]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034361
AA Change: Q397K
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000034361 Gene: ENSMUSG00000031889 AA Change: Q397K
Domain | Start | End | E-Value | Type |
Pfam:UPF0183
|
15 |
407 |
1.7e-161 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093217
|
SMART Domains |
Protein: ENSMUSP00000133023 Gene: ENSMUSG00000069920
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
Pfam:Galactosyl_T
|
132 |
331 |
1e-40 |
PFAM |
Pfam:Fringe
|
212 |
335 |
3.6e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124113
|
SMART Domains |
Protein: ENSMUSP00000119743 Gene: ENSMUSG00000031889
Domain | Start | End | E-Value | Type |
Pfam:UPF0183
|
13 |
120 |
1.9e-52 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136822
|
SMART Domains |
Protein: ENSMUSP00000130840 Gene: ENSMUSG00000069920
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
Pfam:Galactosyl_T
|
132 |
331 |
1e-40 |
PFAM |
Pfam:Fringe
|
212 |
335 |
3.6e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141957
|
SMART Domains |
Protein: ENSMUSP00000119148 Gene: ENSMUSG00000031889
Domain | Start | End | E-Value | Type |
Pfam:UPF0183
|
13 |
161 |
2.8e-65 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161745
|
SMART Domains |
Protein: ENSMUSP00000125145 Gene: ENSMUSG00000069920
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610010F05Rik |
A |
C |
11: 23,606,757 (GRCm38) |
C408G |
probably benign |
Het |
Adgrf5 |
T |
C |
17: 43,450,753 (GRCm38) |
L1113P |
probably damaging |
Het |
Aldh3b3 |
T |
C |
19: 3,963,970 (GRCm38) |
L57P |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,559,252 (GRCm38) |
D132G |
probably benign |
Het |
Cep290 |
C |
T |
10: 100,492,681 (GRCm38) |
R111W |
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,429,935 (GRCm38) |
D792G |
probably damaging |
Het |
Col20a1 |
C |
T |
2: 181,007,615 (GRCm38) |
R1029W |
probably damaging |
Het |
Csf3r |
A |
G |
4: 126,037,610 (GRCm38) |
Y462C |
probably damaging |
Het |
Cthrc1 |
T |
C |
15: 39,077,116 (GRCm38) |
V38A |
probably benign |
Het |
Cxcr2 |
T |
C |
1: 74,158,839 (GRCm38) |
V164A |
probably benign |
Het |
Efr3b |
A |
G |
12: 3,984,574 (GRCm38) |
S199P |
probably damaging |
Het |
Elavl4 |
A |
G |
4: 110,206,466 (GRCm38) |
C342R |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,151,530 (GRCm38) |
|
probably null |
Het |
Gm14190 |
A |
T |
11: 99,690,650 (GRCm38) |
C31S |
unknown |
Het |
Golt1b |
T |
A |
6: 142,394,043 (GRCm38) |
V78D |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,869,212 (GRCm38) |
D29V |
probably damaging |
Het |
Itih1 |
T |
A |
14: 30,931,185 (GRCm38) |
D766V |
probably damaging |
Het |
Larp1b |
C |
T |
3: 40,972,444 (GRCm38) |
S251F |
probably damaging |
Het |
Lrp8 |
A |
G |
4: 107,834,743 (GRCm38) |
T115A |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,504,300 (GRCm38) |
S100P |
probably benign |
Het |
Lss |
T |
C |
10: 76,545,452 (GRCm38) |
V424A |
possibly damaging |
Het |
Ltbp1 |
T |
C |
17: 75,290,078 (GRCm38) |
V568A |
possibly damaging |
Het |
Myo10 |
A |
T |
15: 25,731,970 (GRCm38) |
T311S |
probably benign |
Het |
Nsd3 |
T |
C |
8: 25,682,562 (GRCm38) |
V779A |
probably benign |
Het |
Olfr1335 |
A |
T |
4: 118,808,933 (GRCm38) |
S310R |
probably damaging |
Het |
Olfr138 |
C |
A |
17: 38,275,580 (GRCm38) |
Q270K |
probably damaging |
Het |
Olfr1444 |
A |
T |
19: 12,861,795 (GRCm38) |
I7F |
probably benign |
Het |
Olfr624 |
T |
C |
7: 103,670,945 (GRCm38) |
T29A |
probably benign |
Het |
Olfr698 |
A |
G |
7: 106,752,636 (GRCm38) |
W251R |
possibly damaging |
Het |
Olfr748 |
T |
A |
14: 50,710,762 (GRCm38) |
L144Q |
probably damaging |
Het |
Pak1 |
T |
A |
7: 97,886,348 (GRCm38) |
D215E |
probably benign |
Het |
Pde7b |
A |
G |
10: 20,407,191 (GRCm38) |
F355L |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,376,923 (GRCm38) |
S204P |
|
Het |
Pirb |
C |
T |
7: 3,717,801 (GRCm38) |
G233R |
not run |
Het |
Pirb |
T |
C |
7: 3,717,783 (GRCm38) |
K239E |
not run |
Het |
Pnp |
G |
A |
14: 50,951,003 (GRCm38) |
M211I |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,758,823 (GRCm38) |
L319Q |
probably benign |
Het |
Rspry1 |
G |
T |
8: 94,623,122 (GRCm38) |
C46F |
probably damaging |
Het |
Sec11c |
C |
T |
18: 65,812,712 (GRCm38) |
T82M |
possibly damaging |
Het |
Secisbp2 |
T |
C |
13: 51,673,098 (GRCm38) |
V414A |
probably benign |
Het |
Tenm2 |
A |
G |
11: 36,864,935 (GRCm38) |
F79L |
probably damaging |
Het |
Vmn2r2 |
A |
G |
3: 64,134,598 (GRCm38) |
V232A |
possibly damaging |
Het |
Zbtb17 |
T |
C |
4: 141,466,083 (GRCm38) |
S593P |
probably damaging |
Het |
Zfp143 |
T |
G |
7: 110,086,220 (GRCm38) |
C419G |
possibly damaging |
Het |
Zfp804b |
T |
C |
5: 6,771,293 (GRCm38) |
N590S |
possibly damaging |
Het |
|
Other mutations in D230025D16Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01935:D230025D16Rik
|
APN |
8 |
105,240,001 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL02058:D230025D16Rik
|
APN |
8 |
105,239,709 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02162:D230025D16Rik
|
APN |
8 |
105,239,973 (GRCm38) |
splice site |
probably benign |
|
IGL02264:D230025D16Rik
|
APN |
8 |
105,234,546 (GRCm38) |
missense |
possibly damaging |
0.67 |
IGL02512:D230025D16Rik
|
APN |
8 |
105,234,478 (GRCm38) |
splice site |
probably benign |
|
FR4340:D230025D16Rik
|
UTSW |
8 |
105,241,098 (GRCm38) |
missense |
probably benign |
|
FR4342:D230025D16Rik
|
UTSW |
8 |
105,241,098 (GRCm38) |
missense |
probably benign |
|
FR4589:D230025D16Rik
|
UTSW |
8 |
105,241,098 (GRCm38) |
missense |
probably benign |
|
R0564:D230025D16Rik
|
UTSW |
8 |
105,239,971 (GRCm38) |
splice site |
probably benign |
|
R1458:D230025D16Rik
|
UTSW |
8 |
105,246,556 (GRCm38) |
critical splice donor site |
probably null |
|
R1705:D230025D16Rik
|
UTSW |
8 |
105,238,472 (GRCm38) |
splice site |
probably benign |
|
R1860:D230025D16Rik
|
UTSW |
8 |
105,240,071 (GRCm38) |
missense |
probably null |
1.00 |
R1861:D230025D16Rik
|
UTSW |
8 |
105,240,071 (GRCm38) |
missense |
probably null |
1.00 |
R1893:D230025D16Rik
|
UTSW |
8 |
105,246,501 (GRCm38) |
missense |
probably damaging |
1.00 |
R1969:D230025D16Rik
|
UTSW |
8 |
105,246,500 (GRCm38) |
missense |
possibly damaging |
0.81 |
R2246:D230025D16Rik
|
UTSW |
8 |
105,246,500 (GRCm38) |
missense |
possibly damaging |
0.81 |
R3914:D230025D16Rik
|
UTSW |
8 |
105,239,983 (GRCm38) |
missense |
probably benign |
0.00 |
R4175:D230025D16Rik
|
UTSW |
8 |
105,241,131 (GRCm38) |
missense |
probably benign |
0.09 |
R4176:D230025D16Rik
|
UTSW |
8 |
105,241,131 (GRCm38) |
missense |
probably benign |
0.09 |
R4602:D230025D16Rik
|
UTSW |
8 |
105,246,888 (GRCm38) |
missense |
possibly damaging |
0.72 |
R5965:D230025D16Rik
|
UTSW |
8 |
105,234,539 (GRCm38) |
missense |
probably damaging |
1.00 |
R7787:D230025D16Rik
|
UTSW |
8 |
105,231,188 (GRCm38) |
missense |
probably damaging |
1.00 |
R7881:D230025D16Rik
|
UTSW |
8 |
105,249,452 (GRCm38) |
missense |
probably benign |
0.21 |
R8168:D230025D16Rik
|
UTSW |
8 |
105,248,769 (GRCm38) |
missense |
probably benign |
0.02 |
R8949:D230025D16Rik
|
UTSW |
8 |
105,249,443 (GRCm38) |
missense |
probably benign |
|
R9183:D230025D16Rik
|
UTSW |
8 |
105,231,208 (GRCm38) |
missense |
probably benign |
0.01 |
Z1088:D230025D16Rik
|
UTSW |
8 |
105,231,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TACTTCAGCAGGCTTTCGTAG -3'
(R):5'- GCCAAGGTGTCCAAGCAAAC -3'
Sequencing Primer
(F):5'- AAAAGCCATGTGTCCTGTGAAC -3'
(R):5'- GGTGTCCAAGCAAACACACAGG -3'
|
Posted On |
2019-11-12 |