Incidental Mutation 'R5247:Fam98c'
| ID |
401192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam98c
|
| Ensembl Gene |
ENSMUSG00000030590 |
| Gene Name |
family with sequence similarity 98, member C |
| Synonyms |
B230110F21Rik, 1110006G06Rik |
| MMRRC Submission |
042818-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5247 (G1)
|
| Quality Score |
86 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28851935-28855653 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28855126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 99
(E99G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032811]
[ENSMUST00000048923]
[ENSMUST00000094617]
[ENSMUST00000123416]
[ENSMUST00000134176]
[ENSMUST00000164589]
[ENSMUST00000203070]
[ENSMUST00000161522]
[ENSMUST00000159351]
[ENSMUST00000159975]
[ENSMUST00000160396]
[ENSMUST00000205027]
[ENSMUST00000204845]
[ENSMUST00000204194]
[ENSMUST00000203380]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000053062
AA Change: S8P
|
| 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 |
probably benign
Transcript: ENSMUST00000123416
|
| SMART Domains |
Protein: ENSMUSP00000122992
Gene: ENSMUSG00000030590
| 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 |
possibly damaging
Transcript: ENSMUST00000136256
AA Change: E99G
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118932
Gene: ENSMUSG00000030590
AA Change: E99G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
6 |
273 |
7e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138084
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164589
AA Change: E99G
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131477
Gene: ENSMUSG00000030590
AA Change: E99G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
8 |
327 |
3.8e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184073
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144795
AA Change: E95G
|
| SMART Domains |
Protein: ENSMUSP00000121796
Gene: ENSMUSG00000030590
AA Change: E95G
| 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 |
unknown
Transcript: ENSMUST00000153251
AA Change: E6G
|
| SMART Domains |
Protein: ENSMUSP00000117500
Gene: ENSMUSG00000030590
AA Change: E6G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
1 |
114 |
1.9e-22 |
PFAM |
|
Pfam:DUF2465
|
111 |
196 |
1.1e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147561
|
| 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: 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 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: ENSMUST00000160396
|
| 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 |
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: 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: ENSMUST00000205672
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
T |
1: 72,719,343 (GRCm39) |
V502E |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,874 (GRCm39) |
L585* |
probably null |
Het |
| Atp6v0a2 |
T |
C |
5: 124,790,241 (GRCm39) |
S475P |
probably damaging |
Het |
| Cacng1 |
T |
C |
11: 107,607,105 (GRCm39) |
H38R |
probably benign |
Het |
| Ccdc168 |
A |
C |
1: 44,096,166 (GRCm39) |
L1644* |
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,304,946 (GRCm39) |
V2168A |
probably benign |
Het |
| Cnot4 |
C |
T |
6: 35,028,351 (GRCm39) |
V422I |
probably damaging |
Het |
| Col1a1 |
T |
C |
11: 94,838,013 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
A |
T |
13: 113,455,993 (GRCm39) |
I680F |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,955,402 (GRCm39) |
C287S |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,473,401 (GRCm39) |
D133E |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,404,524 (GRCm39) |
L52P |
probably damaging |
Het |
| Fmn2 |
A |
T |
1: 174,648,794 (GRCm39) |
I1574L |
probably benign |
Het |
| Gabrb3 |
T |
A |
7: 57,240,339 (GRCm39) |
L8Q |
possibly damaging |
Het |
| Hck |
A |
T |
2: 152,976,615 (GRCm39) |
K250* |
probably null |
Het |
| Herc1 |
A |
G |
9: 66,341,833 (GRCm39) |
E1874G |
probably benign |
Het |
| Igf2 |
G |
T |
7: 142,207,668 (GRCm39) |
A143D |
possibly damaging |
Het |
| Isg20l2 |
A |
G |
3: 87,838,920 (GRCm39) |
N44D |
possibly damaging |
Het |
| Kdm7a |
T |
A |
6: 39,121,390 (GRCm39) |
Q855L |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,815,507 (GRCm39) |
S434P |
possibly damaging |
Het |
| Klrc3 |
A |
T |
6: 129,618,425 (GRCm39) |
N119K |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,203,706 (GRCm39) |
M375V |
unknown |
Het |
| Lpcat4 |
A |
G |
2: 112,072,860 (GRCm39) |
H173R |
possibly damaging |
Het |
| Mapk13 |
A |
T |
17: 28,996,725 (GRCm39) |
Q264L |
probably benign |
Het |
| Mrps18c |
C |
G |
5: 100,946,659 (GRCm39) |
C8W |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nlrp4b |
T |
A |
7: 10,448,145 (GRCm39) |
I116N |
probably benign |
Het |
| Or10h1 |
A |
G |
17: 33,418,504 (GRCm39) |
T161A |
probably benign |
Het |
| Or5b124 |
T |
A |
19: 13,610,778 (GRCm39) |
F101Y |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,316,098 (GRCm39) |
H679Q |
probably damaging |
Het |
| Prickle2 |
T |
A |
6: 92,352,950 (GRCm39) |
S839C |
probably damaging |
Het |
| Rps19 |
T |
A |
7: 24,584,878 (GRCm39) |
S36T |
probably damaging |
Het |
| Serpinb1a |
T |
A |
13: 33,034,389 (GRCm39) |
M1L |
probably damaging |
Het |
| Slc16a7 |
A |
T |
10: 125,067,183 (GRCm39) |
M152K |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Stx18 |
A |
T |
5: 38,263,977 (GRCm39) |
Y141F |
probably damaging |
Het |
| Tgfb2 |
A |
T |
1: 186,382,111 (GRCm39) |
|
probably null |
Het |
| Tle7 |
T |
C |
8: 110,837,209 (GRCm39) |
F299S |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,571 (GRCm39) |
Y290N |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,558,766 (GRCm39) |
T29705M |
probably damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
G |
9: 108,373,264 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ATTAACCCTAGCCTATCTACCTGCG -3'
(R):5'- AAAGATTCGGTGGTGTGGCC -3'
Sequencing Primer
(F):5'- ATCTACCTGCGGCCTTCAAG -3'
(R):5'- TGTGCAGACTTCAGGGCG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation