Incidental Mutation 'R8691:Fam98c'
| ID |
668367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam98c
|
| Ensembl Gene |
ENSMUSG00000030590 |
| Gene Name |
family with sequence similarity 98, member C |
| Synonyms |
B230110F21Rik, 1110006G06Rik |
| MMRRC Submission |
068545-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R8691 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28851935-28855653 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28852889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 48
(V48E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032811]
[ENSMUST00000094617]
[ENSMUST00000123416]
[ENSMUST00000134176]
[ENSMUST00000159351]
[ENSMUST00000159975]
[ENSMUST00000160194]
[ENSMUST00000160396]
[ENSMUST00000161522]
[ENSMUST00000164589]
[ENSMUST00000203070]
[ENSMUST00000203380]
[ENSMUST00000204194]
[ENSMUST00000204845]
[ENSMUST00000205027]
|
| 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: 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: V122E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122992
Gene: ENSMUSG00000030590
AA Change: V122E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
6 |
125 |
8.9e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134176
AA Change: V48E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120165
Gene: ENSMUSG00000030590
AA Change: V48E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
1 |
125 |
5.9e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144795
|
| SMART Domains |
Protein: ENSMUSP00000121796
Gene: ENSMUSG00000030590
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117500
Gene: ENSMUSG00000030590
AA Change: V118E
| 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: 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: 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: ENSMUST00000160194
|
| SMART Domains |
Protein: ENSMUSP00000124908
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 |
8e-32 |
BLAST |
|
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
|
RasGEF
|
197 |
423 |
6.73e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160396
|
| 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 |
probably damaging
Transcript: ENSMUST00000164589
AA Change: V250E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131477
Gene: ENSMUSG00000030590
AA Change: V250E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
8 |
327 |
3.8e-95 |
PFAM |
|
| 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 |
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: 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 |
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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.5271 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082J24Rik |
G |
T |
5: 30,310,287 (GRCm39) |
A24E |
unknown |
Het |
| Acap1 |
A |
G |
11: 69,781,003 (GRCm39) |
L117P |
probably damaging |
Het |
| Actl6b |
G |
A |
5: 137,565,585 (GRCm39) |
G394S |
probably damaging |
Het |
| Actr3b |
G |
T |
5: 26,030,202 (GRCm39) |
V177F |
possibly damaging |
Het |
| Adamts6 |
A |
G |
13: 104,450,839 (GRCm39) |
T341A |
probably benign |
Het |
| Agbl4 |
G |
T |
4: 111,520,156 (GRCm39) |
V474F |
probably benign |
Het |
| Atosa |
A |
T |
9: 74,917,335 (GRCm39) |
T652S |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,516,517 (GRCm39) |
S353P |
probably benign |
Het |
| C1qtnf9 |
G |
A |
14: 61,017,141 (GRCm39) |
D224N |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,421,260 (GRCm39) |
N121Y |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,078 (GRCm39) |
Y773N |
possibly damaging |
Het |
| Cbfa2t2 |
C |
A |
2: 154,342,403 (GRCm39) |
P40T |
possibly damaging |
Het |
| Colec10 |
A |
C |
15: 54,298,420 (GRCm39) |
E60D |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,800,280 (GRCm39) |
V1647A |
probably benign |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,471 (GRCm39) |
F222L |
probably benign |
Het |
| Dennd1b |
A |
T |
1: 138,969,774 (GRCm39) |
I97F |
possibly damaging |
Het |
| Deptor |
A |
C |
15: 55,083,596 (GRCm39) |
D388A |
possibly damaging |
Het |
| Dhx40 |
T |
C |
11: 86,690,419 (GRCm39) |
K201E |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,145,850 (GRCm39) |
R854C |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,877,517 (GRCm39) |
I409V |
possibly damaging |
Het |
| Eif1ad16 |
T |
G |
12: 87,985,278 (GRCm39) |
K88N |
probably damaging |
Het |
| Esp31 |
G |
T |
17: 38,955,592 (GRCm39) |
L78F |
possibly damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,853,264 (GRCm39) |
E1517V |
possibly damaging |
Het |
| Fgfr1 |
A |
T |
8: 26,052,253 (GRCm39) |
D193V |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,775 (GRCm39) |
|
probably benign |
Het |
| Gm17078 |
A |
T |
14: 51,848,693 (GRCm39) |
F15I |
probably damaging |
Het |
| Grid2 |
G |
T |
6: 63,480,321 (GRCm39) |
R45L |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,904,223 (GRCm39) |
V1175A |
probably benign |
Het |
| Hspa1b |
T |
C |
17: 35,176,072 (GRCm39) |
I638V |
possibly damaging |
Het |
| Ighv6-7 |
A |
G |
12: 114,419,304 (GRCm39) |
V100A |
probably benign |
Het |
| Itch |
G |
T |
2: 155,052,478 (GRCm39) |
E693* |
probably null |
Het |
| Ivl |
G |
A |
3: 92,478,823 (GRCm39) |
S414L |
unknown |
Het |
| Kif5b |
T |
A |
18: 6,225,787 (GRCm39) |
N160I |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,306,881 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
C |
T |
12: 16,623,660 (GRCm39) |
|
probably benign |
Het |
| Malsu1 |
C |
A |
6: 49,052,171 (GRCm39) |
H130Q |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,297,676 (GRCm39) |
L787V |
probably damaging |
Het |
| Nynrin |
C |
T |
14: 56,110,106 (GRCm39) |
R1738W |
probably damaging |
Het |
| Or11g27 |
A |
G |
14: 50,770,910 (GRCm39) |
T14A |
probably benign |
Het |
| Or4e1 |
A |
T |
14: 52,701,358 (GRCm39) |
I36N |
possibly damaging |
Het |
| Or51d1 |
C |
T |
7: 102,347,777 (GRCm39) |
Q111* |
probably null |
Het |
| Or7e176 |
T |
A |
9: 20,171,747 (GRCm39) |
S204T |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,706 (GRCm39) |
T364A |
unknown |
Het |
| Phlda2 |
A |
C |
7: 143,056,206 (GRCm39) |
S8A |
probably benign |
Het |
| Pou3f1 |
G |
A |
4: 124,551,549 (GRCm39) |
G17E |
unknown |
Het |
| Ppfibp2 |
A |
G |
7: 107,346,785 (GRCm39) |
D899G |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 106,639,833 (GRCm39) |
V171A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,816,513 (GRCm39) |
T1262A |
probably damaging |
Het |
| Rnf41 |
T |
C |
10: 128,274,077 (GRCm39) |
V243A |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,427,182 (GRCm39) |
N1162K |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,602,005 (GRCm39) |
L1419* |
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,880,313 (GRCm39) |
C1954R |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,674,161 (GRCm39) |
I622F |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,796,110 (GRCm39) |
E673G |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,262,110 (GRCm39) |
I340T |
probably damaging |
Het |
| Vmn2r110 |
G |
T |
17: 20,803,404 (GRCm39) |
D390E |
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 |
|
R6388:Fam98c
|
UTSW |
7 |
28,854,728 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TCTAAAAGCCAAGGATGCCCAG -3'
(R):5'- CATGGTCAACCCCTTCTGAG -3'
Sequencing Primer
(F):5'- AGGATGCCCAGACTCTCC -3'
(R):5'- CTGAGGCTGATCTTGACAGTCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation