Incidental Mutation 'R4629:Fam98c'
ID |
349039 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam98c
|
Ensembl Gene |
ENSMUSG00000030590 |
Gene Name |
family with sequence similarity 98, member C |
Synonyms |
B230110F21Rik, 1110006G06Rik |
MMRRC Submission |
041894-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R4629 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
28851935-28855653 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28854693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 49
(T49A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032811]
[ENSMUST00000048923]
[ENSMUST00000094617]
[ENSMUST00000123416]
[ENSMUST00000134176]
[ENSMUST00000164589]
[ENSMUST00000203070]
[ENSMUST00000203380]
[ENSMUST00000159351]
[ENSMUST00000159975]
[ENSMUST00000160396]
[ENSMUST00000161522]
[ENSMUST00000205027]
[ENSMUST00000204845]
[ENSMUST00000204194]
|
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: T49A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122992 Gene: ENSMUSG00000030590 AA Change: T49A
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 |
probably benign
Transcript: ENSMUST00000136256
AA Change: T138A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118932 Gene: ENSMUSG00000030590 AA Change: T138A
Domain | Start | End | E-Value | Type |
Pfam:DUF2465
|
6 |
273 |
7e-47 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147561
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150431
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164589
AA Change: T138A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000131477 Gene: ENSMUSG00000030590 AA Change: T138A
Domain | Start | End | E-Value | Type |
Pfam:DUF2465
|
8 |
327 |
3.8e-95 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000144795
AA Change: T134A
|
SMART Domains |
Protein: ENSMUSP00000121796 Gene: ENSMUSG00000030590 AA Change: T134A
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: T45A
|
SMART Domains |
Protein: ENSMUSP00000117500 Gene: ENSMUSG00000030590 AA Change: T45A
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: ENSMUST00000138084
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184073
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159898
|
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: 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: 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: 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 |
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921528I07Rik |
T |
C |
9: 114,108,419 (GRCm39) |
|
noncoding transcript |
Het |
Abca6 |
T |
C |
11: 110,121,375 (GRCm39) |
|
probably null |
Het |
Adam22 |
A |
G |
5: 8,282,663 (GRCm39) |
S111P |
possibly damaging |
Het |
Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
Alg10b |
C |
T |
15: 90,111,948 (GRCm39) |
A264V |
probably benign |
Het |
Angpt1 |
T |
A |
15: 42,301,796 (GRCm39) |
Y404F |
probably benign |
Het |
Apol7c |
A |
G |
15: 77,410,595 (GRCm39) |
F117S |
probably damaging |
Het |
Asic5 |
T |
A |
3: 81,913,811 (GRCm39) |
Y162N |
probably damaging |
Het |
Cacna2d2 |
A |
T |
9: 107,404,521 (GRCm39) |
E1104V |
probably damaging |
Het |
Cad |
G |
A |
5: 31,227,639 (GRCm39) |
V1263I |
probably damaging |
Het |
Cdc20 |
T |
C |
4: 118,290,761 (GRCm39) |
E413G |
probably damaging |
Het |
Cfap46 |
A |
T |
7: 139,260,843 (GRCm39) |
L85Q |
probably damaging |
Het |
Cnot6l |
A |
G |
5: 96,225,070 (GRCm39) |
V541A |
probably benign |
Het |
Cubn |
T |
A |
2: 13,318,790 (GRCm39) |
|
probably null |
Het |
Cx3cr1 |
T |
C |
9: 119,880,730 (GRCm39) |
N224S |
probably damaging |
Het |
Fez2 |
C |
T |
17: 78,710,183 (GRCm39) |
S202N |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,924,593 (GRCm39) |
N3678S |
probably benign |
Het |
Glyr1 |
A |
G |
16: 4,854,907 (GRCm39) |
V57A |
possibly damaging |
Het |
Gm5617 |
T |
A |
9: 48,407,187 (GRCm39) |
L107Q |
possibly damaging |
Het |
Gpnmb |
A |
G |
6: 49,027,994 (GRCm39) |
D401G |
possibly damaging |
Het |
Gtpbp6 |
C |
A |
5: 110,254,774 (GRCm39) |
V100L |
possibly damaging |
Het |
Gucy1a1 |
A |
G |
3: 82,004,931 (GRCm39) |
V618A |
probably damaging |
Het |
H6pd |
A |
T |
4: 150,080,803 (GRCm39) |
M14K |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,435,266 (GRCm39) |
M993V |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Lama1 |
A |
G |
17: 68,112,355 (GRCm39) |
|
probably null |
Het |
Lgr6 |
T |
C |
1: 135,032,670 (GRCm39) |
Y70C |
probably damaging |
Het |
Lipg |
T |
A |
18: 75,081,107 (GRCm39) |
K325* |
probably null |
Het |
Lrrc43 |
T |
C |
5: 123,637,583 (GRCm39) |
L250P |
probably damaging |
Het |
Lyz1 |
C |
T |
10: 117,127,041 (GRCm39) |
R65H |
probably benign |
Het |
Marchf10 |
T |
A |
11: 105,280,664 (GRCm39) |
L540F |
probably benign |
Het |
Maz |
G |
T |
7: 126,624,519 (GRCm39) |
H334N |
possibly damaging |
Het |
Myh1 |
A |
G |
11: 67,100,119 (GRCm39) |
K646R |
probably benign |
Het |
Nf2 |
A |
T |
11: 4,798,915 (GRCm39) |
V24E |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,075,182 (GRCm39) |
S831P |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,098,181 (GRCm39) |
R1378* |
probably null |
Het |
Or13a17 |
T |
A |
7: 140,271,291 (GRCm39) |
S158T |
probably benign |
Het |
Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
Palb2 |
A |
C |
7: 121,727,189 (GRCm39) |
I227S |
possibly damaging |
Het |
Pate3 |
A |
T |
9: 35,557,453 (GRCm39) |
C68S |
probably damaging |
Het |
Pcdha12 |
T |
A |
18: 37,154,926 (GRCm39) |
N548K |
probably damaging |
Het |
Prdm10 |
C |
T |
9: 31,248,612 (GRCm39) |
Q345* |
probably null |
Het |
Ptx4 |
A |
T |
17: 25,341,737 (GRCm39) |
N71Y |
probably damaging |
Het |
Rab42 |
C |
T |
4: 132,030,548 (GRCm39) |
R34Q |
probably benign |
Het |
Rergl |
A |
G |
6: 139,478,850 (GRCm39) |
V8A |
probably damaging |
Het |
Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
Rpia |
A |
G |
6: 70,743,578 (GRCm39) |
M291T |
possibly damaging |
Het |
Rplp0 |
G |
A |
5: 115,699,482 (GRCm39) |
|
probably null |
Het |
Rrp12 |
A |
T |
19: 41,871,955 (GRCm39) |
I443N |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Saxo1 |
T |
C |
4: 86,406,064 (GRCm39) |
Y45C |
probably damaging |
Het |
Sec24a |
A |
T |
11: 51,612,640 (GRCm39) |
|
probably null |
Het |
Setdb2 |
A |
G |
14: 59,646,808 (GRCm39) |
V585A |
probably benign |
Het |
Sik1 |
T |
C |
17: 32,068,581 (GRCm39) |
E347G |
probably benign |
Het |
Srbd1 |
T |
C |
17: 86,428,100 (GRCm39) |
T378A |
probably damaging |
Het |
Tacr1 |
A |
G |
6: 82,380,861 (GRCm39) |
T91A |
probably benign |
Het |
Tas2r135 |
T |
A |
6: 42,383,160 (GRCm39) |
M233K |
probably benign |
Het |
Tfg |
A |
T |
16: 56,533,039 (GRCm39) |
M40K |
probably damaging |
Het |
Tmem35b |
C |
T |
4: 127,022,796 (GRCm39) |
P133S |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
Trpv3 |
A |
T |
11: 73,172,615 (GRCm39) |
K253N |
probably damaging |
Het |
Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,106,097 (GRCm39) |
M669T |
possibly damaging |
Het |
Vmn1r61 |
T |
A |
7: 5,614,249 (GRCm39) |
I22F |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,038,150 (GRCm39) |
Q575L |
possibly damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,103,276 (GRCm39) |
E156D |
probably damaging |
Het |
Vwa3a |
T |
A |
7: 120,392,598 (GRCm39) |
N812K |
probably benign |
Het |
Wasl |
T |
C |
6: 24,637,680 (GRCm39) |
R71G |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,824,515 (GRCm39) |
N1301K |
probably damaging |
Het |
Zfp827 |
G |
A |
8: 79,787,011 (GRCm39) |
R59Q |
probably damaging |
Het |
Zfp87 |
A |
G |
13: 74,520,512 (GRCm39) |
C189R |
probably damaging |
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 |
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 |
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'- AACGAATGGCCACTGTCGATG -3'
(R):5'- TGGTTCTGAAGTGGACCCAC -3'
Sequencing Primer
(F):5'- CACTGTCGATGGGTCATCC -3'
(R):5'- ACATCCCCCATTGTCGGTGG -3'
|
Posted On |
2015-10-08 |