Incidental Mutation 'R6388:Fam98c'
ID |
515634 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam98c
|
Ensembl Gene |
ENSMUSG00000030590 |
Gene Name |
family with sequence similarity 98, member C |
Synonyms |
B230110F21Rik, 1110006G06Rik |
MMRRC Submission |
044537-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R6388 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28851935-28855653 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 28854728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 126
(R126Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131477
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032811]
[ENSMUST00000048923]
[ENSMUST00000094617]
[ENSMUST00000123416]
[ENSMUST00000134176]
[ENSMUST00000164589]
[ENSMUST00000161522]
[ENSMUST00000159351]
[ENSMUST00000203070]
[ENSMUST00000159975]
[ENSMUST00000160396]
[ENSMUST00000204194]
[ENSMUST00000203380]
[ENSMUST00000205027]
[ENSMUST00000204845]
|
AlphaFold |
E9PYD1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032811
|
SMART Domains |
Protein: ENSMUSP00000032811 Gene: ENSMUSG00000030589
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
Blast:RasGEFN
|
66 |
162 |
1e-30 |
BLAST |
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
RasGEF
|
197 |
433 |
2.92e-70 |
SMART |
C1
|
541 |
590 |
4.12e-12 |
SMART |
low complexity region
|
600 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000048923
|
SMART Domains |
Protein: ENSMUSP00000046216 Gene: ENSMUSG00000037239
Domain | Start | End | E-Value | Type |
Pfam:WH1
|
1 |
110 |
1.6e-13 |
PFAM |
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
low complexity region
|
142 |
153 |
N/A |
INTRINSIC |
Pfam:Sprouty
|
292 |
400 |
7.1e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094617
|
SMART Domains |
Protein: ENSMUSP00000092200 Gene: ENSMUSG00000030589
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
Blast:RasGEFN
|
66 |
163 |
2e-29 |
BLAST |
low complexity region
|
164 |
189 |
N/A |
INTRINSIC |
RasGEF
|
198 |
434 |
2.92e-70 |
SMART |
C1
|
542 |
596 |
1.81e-8 |
SMART |
low complexity region
|
606 |
615 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123416
AA Change: R37Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122992 Gene: ENSMUSG00000030590 AA Change: R37Q
Domain | Start | End | E-Value | Type |
Pfam:DUF2465
|
6 |
125 |
8.9e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123545
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134176
|
SMART Domains |
Protein: ENSMUSP00000120165 Gene: ENSMUSG00000030590
Domain | Start | End | E-Value | Type |
Pfam:DUF2465
|
1 |
125 |
5.9e-45 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138084
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153251
AA Change: R33Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000117500 Gene: ENSMUSG00000030590 AA Change: R33Q
Domain | Start | End | E-Value | Type |
Pfam:DUF2465
|
1 |
114 |
1.9e-22 |
PFAM |
Pfam:DUF2465
|
111 |
196 |
1.1e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144795
AA Change: R122Q
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000121796 Gene: ENSMUSG00000030590 AA Change: R122Q
Domain | Start | End | E-Value | Type |
Pfam:DUF2465
|
5 |
175 |
1.7e-30 |
PFAM |
Pfam:DUF2465
|
172 |
213 |
1.3e-14 |
PFAM |
Pfam:DUF2465
|
211 |
242 |
6.9e-13 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164589
AA Change: R126Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131477 Gene: ENSMUSG00000030590 AA Change: R126Q
Domain | Start | End | E-Value | Type |
Pfam:DUF2465
|
8 |
327 |
3.8e-95 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161522
|
SMART Domains |
Protein: ENSMUSP00000123718 Gene: ENSMUSG00000030589
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
Blast:RasGEFN
|
66 |
165 |
7e-32 |
BLAST |
RasGEF
|
183 |
419 |
2.92e-70 |
SMART |
C1
|
527 |
576 |
4.12e-12 |
SMART |
low complexity region
|
586 |
595 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184073
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159351
|
SMART Domains |
Protein: ENSMUSP00000124183 Gene: ENSMUSG00000030589
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
Blast:RasGEFN
|
66 |
162 |
7e-31 |
BLAST |
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
RasGEF
|
197 |
433 |
2.92e-70 |
SMART |
Blast:RasGEF
|
449 |
553 |
7e-25 |
BLAST |
SCOP:d1ptq__
|
541 |
573 |
1e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203070
|
SMART Domains |
Protein: ENSMUSP00000145352 Gene: ENSMUSG00000030589
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
RasGEFN
|
48 |
172 |
2.6e-3 |
SMART |
RasGEF
|
197 |
504 |
1.8e-20 |
SMART |
C1
|
449 |
498 |
2.1e-14 |
SMART |
low complexity region
|
508 |
517 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159898
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159975
|
SMART Domains |
Protein: ENSMUSP00000125137 Gene: ENSMUSG00000030589
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
Blast:RasGEFN
|
66 |
162 |
1e-30 |
BLAST |
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
RasGEF
|
197 |
433 |
2.92e-70 |
SMART |
C1
|
541 |
595 |
1.81e-8 |
SMART |
low complexity region
|
605 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160396
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204194
|
SMART Domains |
Protein: ENSMUSP00000145259 Gene: ENSMUSG00000030589
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
RasGEFN
|
48 |
172 |
2.6e-3 |
SMART |
RasGEF
|
85 |
336 |
1e-7 |
SMART |
C1
|
444 |
493 |
2.1e-14 |
SMART |
low complexity region
|
503 |
512 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147561
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203380
|
SMART Domains |
Protein: ENSMUSP00000144753 Gene: ENSMUSG00000030589
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
RasGEFN
|
48 |
172 |
2.6e-3 |
SMART |
RasGEF
|
197 |
364 |
3e-25 |
SMART |
C1
|
472 |
521 |
2.1e-14 |
SMART |
low complexity region
|
531 |
540 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205027
|
SMART Domains |
Protein: ENSMUSP00000145186 Gene: ENSMUSG00000030589
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
RasGEFN
|
48 |
172 |
2.6e-3 |
SMART |
C1
|
352 |
401 |
2.1e-14 |
SMART |
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205672
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204845
|
SMART Domains |
Protein: ENSMUSP00000144774 Gene: ENSMUSG00000030589
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
RasGEFN
|
48 |
172 |
2.6e-3 |
SMART |
RasGEF
|
197 |
399 |
8.7e-49 |
SMART |
C1
|
507 |
556 |
2.1e-14 |
SMART |
low complexity region
|
566 |
575 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
probably benign |
Het |
|
Other mutations in Fam98c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00899:Fam98c
|
APN |
7 |
28,852,278 (GRCm39) |
unclassified |
probably benign |
|
IGL02603:Fam98c
|
APN |
7 |
28,853,873 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02638:Fam98c
|
APN |
7 |
28,852,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R0147:Fam98c
|
UTSW |
7 |
28,852,146 (GRCm39) |
nonsense |
probably null |
|
R1248:Fam98c
|
UTSW |
7 |
28,852,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Fam98c
|
UTSW |
7 |
28,854,693 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4628:Fam98c
|
UTSW |
7 |
28,854,693 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4629:Fam98c
|
UTSW |
7 |
28,854,693 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4688:Fam98c
|
UTSW |
7 |
28,854,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R5247:Fam98c
|
UTSW |
7 |
28,855,126 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6254:Fam98c
|
UTSW |
7 |
28,853,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R6354:Fam98c
|
UTSW |
7 |
28,852,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R6433:Fam98c
|
UTSW |
7 |
28,855,553 (GRCm39) |
critical splice donor site |
probably null |
|
R7058:Fam98c
|
UTSW |
7 |
28,855,308 (GRCm39) |
critical splice donor site |
probably null |
|
R7626:Fam98c
|
UTSW |
7 |
28,852,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R8691:Fam98c
|
UTSW |
7 |
28,852,889 (GRCm39) |
missense |
probably damaging |
0.98 |
R9128:Fam98c
|
UTSW |
7 |
28,854,115 (GRCm39) |
missense |
|
|
R9452:Fam98c
|
UTSW |
7 |
28,852,901 (GRCm39) |
missense |
probably benign |
0.00 |
R9658:Fam98c
|
UTSW |
7 |
28,852,206 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Fam98c
|
UTSW |
7 |
28,855,192 (GRCm39) |
missense |
probably benign |
|
Z1186:Fam98c
|
UTSW |
7 |
28,852,883 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Fam98c
|
UTSW |
7 |
28,855,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACAAGTAAGGTACCTCAGGAG -3'
(R):5'- GGCTTGAATTCTGACAGAGGCC -3'
Sequencing Primer
(F):5'- AGGAGACTCTCTCTACCTTGTCATG -3'
(R):5'- GAGGCCTCTGAAAACTTTAATGCG -3'
|
Posted On |
2018-05-04 |