Incidental Mutation 'R6679:Gm10801'
ID |
527373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm10801
|
Ensembl Gene |
ENSMUSG00000075015 |
Gene Name |
predicted gene 10801 |
Synonyms |
|
MMRRC Submission |
044798-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.366)
|
Stock # |
R6679 (G1)
|
Quality Score |
123.467 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
98492582-98494428 bp(+) (GRCm39) |
Type of Mutation |
small insertion (1 aa in frame mutation) |
DNA Base Change (assembly) |
TC to TCGGC
at 98494151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097276
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099683]
[ENSMUST00000099684]
|
AlphaFold |
F7C7Q0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099683
|
SMART Domains |
Protein: ENSMUSP00000097275 Gene: ENSMUSG00000075014
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
1 |
41 |
1.13e-5 |
PROSPERO |
internal_repeat_2
|
26 |
49 |
4.11e-5 |
PROSPERO |
transmembrane domain
|
78 |
96 |
N/A |
INTRINSIC |
internal_repeat_1
|
114 |
174 |
1.13e-5 |
PROSPERO |
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
internal_repeat_2
|
197 |
219 |
4.11e-5 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099684
|
SMART Domains |
Protein: ENSMUSP00000097276 Gene: ENSMUSG00000075015
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
2 |
73 |
1.19e-13 |
PROSPERO |
internal_repeat_1
|
80 |
167 |
1.19e-13 |
PROSPERO |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
91% (40/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449I24Rik |
T |
A |
5: 146,441,750 (GRCm39) |
V299E |
probably damaging |
Het |
Adgrb3 |
T |
C |
1: 25,170,377 (GRCm39) |
I767V |
probably benign |
Het |
Ahnak2 |
G |
A |
12: 112,739,410 (GRCm39) |
T748I |
probably damaging |
Het |
Aoc3 |
T |
A |
11: 101,222,279 (GRCm39) |
L129M |
probably damaging |
Het |
Arhgef7 |
T |
A |
8: 11,874,667 (GRCm39) |
M540K |
possibly damaging |
Het |
Bod1l |
T |
A |
5: 41,974,009 (GRCm39) |
K2435M |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,946,368 (GRCm39) |
|
probably null |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Creb5 |
G |
T |
6: 53,662,454 (GRCm39) |
M250I |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dock10 |
A |
G |
1: 80,544,514 (GRCm39) |
I557T |
probably benign |
Het |
Efcab2 |
G |
A |
1: 178,264,969 (GRCm39) |
A12T |
probably benign |
Het |
Ehd1 |
A |
G |
19: 6,344,474 (GRCm39) |
N245D |
probably benign |
Het |
Erich3 |
T |
A |
3: 154,468,066 (GRCm39) |
D839E |
possibly damaging |
Het |
Fam13b |
T |
C |
18: 34,620,075 (GRCm39) |
T270A |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,200,131 (GRCm39) |
L981Q |
probably damaging |
Het |
Fgfrl1 |
G |
A |
5: 108,852,838 (GRCm39) |
W89* |
probably null |
Het |
Fgfrl1 |
G |
T |
5: 108,852,839 (GRCm39) |
W89C |
probably damaging |
Het |
Gm10770 |
G |
A |
2: 150,021,569 (GRCm39) |
P11S |
probably damaging |
Het |
Hdac3 |
A |
G |
18: 38,077,986 (GRCm39) |
V190A |
possibly damaging |
Het |
Htr1a |
A |
G |
13: 105,581,936 (GRCm39) |
N392S |
probably damaging |
Het |
Ift43 |
A |
G |
12: 86,185,592 (GRCm39) |
M59V |
probably benign |
Het |
Jakmip2 |
T |
C |
18: 43,699,014 (GRCm39) |
T482A |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nme8 |
A |
T |
13: 19,875,140 (GRCm39) |
|
probably null |
Het |
Or5h26 |
A |
G |
16: 58,988,209 (GRCm39) |
I99T |
probably benign |
Het |
Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
Plec |
A |
G |
15: 76,058,015 (GRCm39) |
F3996S |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,237,417 (GRCm39) |
Y961N |
probably damaging |
Het |
Rag1 |
G |
A |
2: 101,474,629 (GRCm39) |
P171L |
probably damaging |
Het |
Rbm24 |
A |
T |
13: 46,572,468 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Rxfp3 |
T |
C |
15: 11,035,956 (GRCm39) |
Y472C |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,615,949 (GRCm39) |
I638F |
probably damaging |
Het |
Sh3glb2 |
G |
A |
2: 30,240,631 (GRCm39) |
R145W |
probably damaging |
Het |
Ston2 |
G |
T |
12: 91,614,870 (GRCm39) |
P513T |
probably damaging |
Het |
Sycp2 |
A |
G |
2: 178,022,721 (GRCm39) |
M470T |
probably damaging |
Het |
Syt10 |
C |
A |
15: 89,698,574 (GRCm39) |
D257Y |
probably damaging |
Het |
Tcfl5 |
G |
T |
2: 180,277,055 (GRCm39) |
L447I |
probably damaging |
Het |
Tlr11 |
T |
C |
14: 50,600,311 (GRCm39) |
W766R |
probably benign |
Het |
Usp33 |
T |
A |
3: 152,074,124 (GRCm39) |
D19E |
possibly damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,868 (GRCm39) |
Y253* |
probably null |
Het |
Wdr55 |
G |
A |
18: 36,896,177 (GRCm39) |
G289D |
probably damaging |
Het |
Zfp523 |
C |
T |
17: 28,421,194 (GRCm39) |
T235M |
probably damaging |
Het |
|
Other mutations in Gm10801 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01100:Gm10801
|
APN |
2 |
98,494,328 (GRCm39) |
missense |
probably benign |
|
IGL01154:Gm10801
|
APN |
2 |
98,494,328 (GRCm39) |
missense |
probably benign |
|
Haplo
|
UTSW |
2 |
98,494,252 (GRCm39) |
splice site |
probably benign |
|
Ladder
|
UTSW |
2 |
98,494,246 (GRCm39) |
splice site |
probably null |
|
PIT4131001:Gm10801
|
UTSW |
2 |
98,492,648 (GRCm39) |
missense |
probably benign |
|
PIT4142001:Gm10801
|
UTSW |
2 |
98,492,648 (GRCm39) |
missense |
probably benign |
|
R0026:Gm10801
|
UTSW |
2 |
98,494,254 (GRCm39) |
splice site |
probably benign |
|
R0063:Gm10801
|
UTSW |
2 |
98,494,185 (GRCm39) |
missense |
probably benign |
0.30 |
R0334:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0335:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1172:Gm10801
|
UTSW |
2 |
98,494,252 (GRCm39) |
splice site |
probably benign |
|
R1321:Gm10801
|
UTSW |
2 |
98,494,252 (GRCm39) |
splice site |
probably benign |
|
R1871:Gm10801
|
UTSW |
2 |
98,494,185 (GRCm39) |
missense |
probably benign |
0.30 |
R1924:Gm10801
|
UTSW |
2 |
98,494,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R2163:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2306:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2379:Gm10801
|
UTSW |
2 |
98,494,185 (GRCm39) |
missense |
probably benign |
0.30 |
R3078:Gm10801
|
UTSW |
2 |
98,494,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R3605:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3892:Gm10801
|
UTSW |
2 |
98,494,246 (GRCm39) |
splice site |
probably null |
|
R3930:Gm10801
|
UTSW |
2 |
98,494,361 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4638:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4709:Gm10801
|
UTSW |
2 |
98,494,246 (GRCm39) |
splice site |
probably null |
|
R5390:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R5405:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R5535:Gm10801
|
UTSW |
2 |
98,492,844 (GRCm39) |
frame shift |
probably null |
|
R5653:Gm10801
|
UTSW |
2 |
98,494,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R5747:Gm10801
|
UTSW |
2 |
98,494,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5987:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6086:Gm10801
|
UTSW |
2 |
98,494,148 (GRCm39) |
nonsense |
probably null |
|
R6090:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R6093:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6112:Gm10801
|
UTSW |
2 |
98,494,409 (GRCm39) |
missense |
probably benign |
0.00 |
R6184:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R6352:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R6357:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
frame shift |
probably null |
|
R6395:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
small insertion |
probably benign |
|
R6514:Gm10801
|
UTSW |
2 |
98,494,214 (GRCm39) |
missense |
probably benign |
0.19 |
R6547:Gm10801
|
UTSW |
2 |
98,494,148 (GRCm39) |
nonsense |
probably null |
|
R6560:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6640:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6675:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R6684:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6758:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R6786:Gm10801
|
UTSW |
2 |
98,494,148 (GRCm39) |
nonsense |
probably null |
|
R6886:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R7783:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R8032:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R8684:Gm10801
|
UTSW |
2 |
98,492,669 (GRCm39) |
frame shift |
probably null |
|
R8831:Gm10801
|
UTSW |
2 |
98,494,334 (GRCm39) |
missense |
probably damaging |
0.96 |
R8843:Gm10801
|
UTSW |
2 |
98,494,151 (GRCm39) |
small insertion |
probably benign |
|
R8946:Gm10801
|
UTSW |
2 |
98,492,669 (GRCm39) |
frame shift |
probably null |
|
R9135:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R9136:Gm10801
|
UTSW |
2 |
98,494,152 (GRCm39) |
nonsense |
probably null |
|
R9423:Gm10801
|
UTSW |
2 |
98,494,148 (GRCm39) |
nonsense |
probably null |
|
R9773:Gm10801
|
UTSW |
2 |
98,494,345 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGTGTAGAAAGCTGTTGCTC -3'
(R):5'- CTTTCTCTAGCCCCGGAAAC -3'
Sequencing Primer
(F):5'- TGGCTCAATGGCAGAGTGC -3'
(R):5'- ATGCACACTGTAAGACCTGG -3'
|
Posted On |
2018-07-23 |