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 |
Incidental Mutation