Incidental Mutation 'RF004:4930407I10Rik'
| ID |
602719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930407I10Rik
|
| Ensembl Gene |
ENSMUSG00000075524 |
| Gene Name |
RIKEN cDNA 4930407I10 gene |
| Synonyms |
LOC328573 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
RF004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81943352-81950739 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81943550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 54
(Q54L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100396]
|
| AlphaFold |
D3Z5T8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100396
AA Change: Q54L
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: Q54L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4727
|
25 |
234 |
1.1e-109 |
PFAM |
|
internal_repeat_1
|
321 |
406 |
9.89e-8 |
PROSPERO |
|
low complexity region
|
453 |
465 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
593 |
707 |
6.03e-6 |
PROSPERO |
|
low complexity region
|
735 |
752 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
773 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
842 |
958 |
6.03e-6 |
PROSPERO |
|
internal_repeat_1
|
876 |
962 |
9.89e-8 |
PROSPERO |
|
low complexity region
|
985 |
996 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1133 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1156 |
N/A |
INTRINSIC |
|
low complexity region
|
1199 |
1208 |
N/A |
INTRINSIC |
|
low complexity region
|
1259 |
1270 |
N/A |
INTRINSIC |
|
low complexity region
|
1282 |
1296 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
A |
19: 21,575,645 (GRCm39) |
H126L |
probably benign |
Het |
| 4930433I11Rik |
AACC |
A |
7: 40,642,479 (GRCm39) |
|
probably benign |
Het |
| Adora2a |
A |
T |
10: 75,168,988 (GRCm39) |
T151S |
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGTCGGCG |
18: 36,693,963 (GRCm39) |
|
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,612,411 (GRCm39) |
K1248E |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| Arl11 |
T |
C |
14: 61,548,304 (GRCm39) |
V38A |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,479,561 (GRCm39) |
N726Y |
probably damaging |
Het |
| Bcat1 |
T |
C |
6: 144,953,349 (GRCm39) |
K413R |
probably benign |
Het |
| Cd244a |
C |
G |
1: 171,405,490 (GRCm39) |
Q292E |
probably benign |
Het |
| Chp1 |
T |
A |
2: 119,411,195 (GRCm39) |
D123E |
probably damaging |
Het |
| Cpeb4 |
ACTCT |
ACTCTCT |
11: 31,877,634 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,535,789 (GRCm39) |
T173A |
possibly damaging |
Het |
| Dlg2 |
T |
A |
7: 90,501,885 (GRCm39) |
C66S |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,328,013 (GRCm39) |
Q3370L |
probably benign |
Het |
| Dnmt1 |
GCACAGTTCCTACCTCGTT |
GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT |
9: 20,821,423 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,436,244 (GRCm39) |
V2420A |
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,118 (GRCm39) |
|
probably benign |
Het |
| Igkv6-25 |
TTGACGGA |
T |
6: 70,192,647 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
G |
A |
7: 80,370,623 (GRCm39) |
A1582V |
probably benign |
Het |
| Lmnb1 |
T |
C |
18: 56,864,046 (GRCm39) |
I217T |
possibly damaging |
Het |
| Mamld1 |
CAG |
CAGTAG |
X: 70,162,437 (GRCm39) |
|
probably null |
Het |
| Map2k2 |
A |
T |
10: 80,951,002 (GRCm39) |
H149L |
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,390 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nxph2 |
G |
A |
2: 23,290,080 (GRCm39) |
R144Q |
probably damaging |
Het |
| Or2t48 |
CA |
C |
11: 58,419,983 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
T |
TTAG |
7: 102,747,516 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
GTTAT |
GTTATTAT |
7: 102,747,512 (GRCm39) |
|
|
Het |
| Or51f1e |
AT |
ATTCT |
7: 102,747,515 (GRCm39) |
|
probably benign |
Het |
| Or51q1 |
TCC |
TCCC |
7: 103,629,110 (GRCm39) |
|
probably null |
Het |
| Or52n20 |
A |
G |
7: 104,320,248 (GRCm39) |
E113G |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,114 (GRCm39) |
F235L |
probably benign |
Het |
| Padi4 |
A |
T |
4: 140,487,269 (GRCm39) |
V211E |
probably damaging |
Het |
| Prdm10 |
A |
C |
9: 31,270,422 (GRCm39) |
D902A |
probably damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,398 (GRCm39) |
D171G |
probably damaging |
Het |
| Rasal3 |
A |
T |
17: 32,610,081 (GRCm39) |
N1035K |
probably damaging |
Het |
| Rassf6 |
GGTCCTGTAGAGCAATGGGGATTC |
GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,778 (GRCm39) |
|
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,388,931 (GRCm39) |
V320A |
probably damaging |
Het |
| S1pr1 |
A |
T |
3: 115,506,536 (GRCm39) |
Y19* |
probably null |
Het |
| Slc22a16 |
A |
C |
10: 40,479,642 (GRCm39) |
L571F |
possibly damaging |
Het |
| Smarca2 |
CAGC |
CAGCCCAAGC |
19: 26,608,420 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
A |
T |
3: 146,132,195 (GRCm39) |
K219* |
probably null |
Het |
| Trav15-2-dv6-2 |
AAG |
AAGCAG |
14: 53,887,212 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GGGAG |
GGGAGGAG |
14: 53,887,207 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GAA |
GAATAA |
14: 53,887,211 (GRCm39) |
|
probably null |
Het |
| Tsen15 |
A |
G |
1: 152,259,470 (GRCm39) |
V63A |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Usp54 |
T |
A |
14: 20,611,368 (GRCm39) |
E1149D |
possibly damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,686 (GRCm39) |
S392R |
probably damaging |
Het |
| Wdr97 |
GAGGAGGA |
G |
15: 76,247,373 (GRCm39) |
|
probably null |
Het |
| Zfp663 |
G |
T |
2: 165,200,363 (GRCm39) |
H72Q |
probably benign |
Het |
| Zfp683 |
TGTGG |
TGTGGTGG |
4: 133,786,185 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in 4930407I10Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:4930407I10Rik
|
APN |
15 |
81,950,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02135:4930407I10Rik
|
APN |
15 |
81,949,205 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02367:4930407I10Rik
|
APN |
15 |
81,949,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02626:4930407I10Rik
|
APN |
15 |
81,949,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02885:4930407I10Rik
|
APN |
15 |
81,948,152 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03199:4930407I10Rik
|
APN |
15 |
81,946,556 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0062:4930407I10Rik
|
UTSW |
15 |
81,950,504 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0062:4930407I10Rik
|
UTSW |
15 |
81,947,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0086:4930407I10Rik
|
UTSW |
15 |
81,946,802 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0578:4930407I10Rik
|
UTSW |
15 |
81,943,556 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1130:4930407I10Rik
|
UTSW |
15 |
81,943,561 (GRCm39) |
missense |
probably benign |
|
|
R1218:4930407I10Rik
|
UTSW |
15 |
81,948,353 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1942:4930407I10Rik
|
UTSW |
15 |
81,949,625 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2380:4930407I10Rik
|
UTSW |
15 |
81,949,036 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3945:4930407I10Rik
|
UTSW |
15 |
81,949,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4096:4930407I10Rik
|
UTSW |
15 |
81,946,406 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4259:4930407I10Rik
|
UTSW |
15 |
81,947,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4261:4930407I10Rik
|
UTSW |
15 |
81,947,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4805:4930407I10Rik
|
UTSW |
15 |
81,950,628 (GRCm39) |
nonsense |
probably null |
|
|
R4992:4930407I10Rik
|
UTSW |
15 |
81,948,203 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5094:4930407I10Rik
|
UTSW |
15 |
81,946,883 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5161:4930407I10Rik
|
UTSW |
15 |
81,947,542 (GRCm39) |
nonsense |
probably null |
|
|
R5201:4930407I10Rik
|
UTSW |
15 |
81,946,745 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5305:4930407I10Rik
|
UTSW |
15 |
81,943,420 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5588:4930407I10Rik
|
UTSW |
15 |
81,949,417 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5844:4930407I10Rik
|
UTSW |
15 |
81,950,065 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6007:4930407I10Rik
|
UTSW |
15 |
81,946,940 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6157:4930407I10Rik
|
UTSW |
15 |
81,947,617 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6188:4930407I10Rik
|
UTSW |
15 |
81,943,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6350:4930407I10Rik
|
UTSW |
15 |
81,947,764 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6408:4930407I10Rik
|
UTSW |
15 |
81,949,307 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6805:4930407I10Rik
|
UTSW |
15 |
81,946,744 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6911:4930407I10Rik
|
UTSW |
15 |
81,948,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6962:4930407I10Rik
|
UTSW |
15 |
81,949,150 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7446:4930407I10Rik
|
UTSW |
15 |
81,950,441 (GRCm39) |
missense |
probably benign |
|
|
R7492:4930407I10Rik
|
UTSW |
15 |
81,948,560 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7699:4930407I10Rik
|
UTSW |
15 |
81,948,306 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7700:4930407I10Rik
|
UTSW |
15 |
81,948,306 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7963:4930407I10Rik
|
UTSW |
15 |
81,948,137 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8215:4930407I10Rik
|
UTSW |
15 |
81,949,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8257:4930407I10Rik
|
UTSW |
15 |
81,950,153 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8311:4930407I10Rik
|
UTSW |
15 |
81,947,440 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8436:4930407I10Rik
|
UTSW |
15 |
81,949,936 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8530:4930407I10Rik
|
UTSW |
15 |
81,949,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8531:4930407I10Rik
|
UTSW |
15 |
81,950,622 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8886:4930407I10Rik
|
UTSW |
15 |
81,950,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9109:4930407I10Rik
|
UTSW |
15 |
81,947,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9298:4930407I10Rik
|
UTSW |
15 |
81,947,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9424:4930407I10Rik
|
UTSW |
15 |
81,947,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9576:4930407I10Rik
|
UTSW |
15 |
81,947,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9654:4930407I10Rik
|
UTSW |
15 |
81,948,916 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9696:4930407I10Rik
|
UTSW |
15 |
81,949,697 (GRCm39) |
missense |
probably benign |
|
|
R9710:4930407I10Rik
|
UTSW |
15 |
81,946,852 (GRCm39) |
missense |
probably benign |
|
|
X0011:4930407I10Rik
|
UTSW |
15 |
81,943,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:4930407I10Rik
|
UTSW |
15 |
81,947,512 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTACTGAGCCAGCTACATCAG -3'
(R):5'- GTGCTTATACAGAGCAGTCCATG -3'
Sequencing Primer
(F):5'- ACCATCTACCTGACCTAAGCCTTG -3'
(R):5'- GCATGTGGCTAACGTTCA -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation