Incidental Mutation 'R1248:Fam98c'
| ID |
152188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam98c
|
| Ensembl Gene |
ENSMUSG00000030590 |
| Gene Name |
family with sequence similarity 98, member C |
| Synonyms |
B230110F21Rik, 1110006G06Rik |
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28851935-28855653 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28852265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 98
(M98T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032811]
[ENSMUST00000094617]
[ENSMUST00000123416]
[ENSMUST00000134176]
[ENSMUST00000164589]
[ENSMUST00000203070]
[ENSMUST00000203380]
[ENSMUST00000159975]
[ENSMUST00000160396]
[ENSMUST00000161522]
[ENSMUST00000160194]
[ENSMUST00000159351]
[ENSMUST00000205027]
[ENSMUST00000204194]
[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: 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 damaging
Transcript: ENSMUST00000134176
AA Change: M98T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120165
Gene: ENSMUSG00000030590
AA Change: M98T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
1 |
125 |
5.9e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138084
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144795
AA Change: M214T
|
| SMART Domains |
Protein: ENSMUSP00000121796
Gene: ENSMUSG00000030590
AA Change: M214T
| 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: M300T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131477
Gene: ENSMUSG00000030590
AA Change: M300T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
8 |
327 |
3.8e-95 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153251
AA Change: M168T
|
| SMART Domains |
Protein: ENSMUSP00000117500
Gene: ENSMUSG00000030590
AA Change: M168T
| 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: ENSMUST00000159898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184073
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000147561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162946
|
| 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: 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: 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.6799 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,564,399 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,664,447 (GRCm39) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,213 (GRCm39) |
R334L |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,758,228 (GRCm39) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,480,058 (GRCm39) |
H371R |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nagpa |
G |
T |
16: 5,016,480 (GRCm39) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,525,088 (GRCm39) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,755 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,742,807 (GRCm39) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,780,311 (GRCm39) |
E53A |
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 |
|
|
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 |
|
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'- AACACGGTTCATAGTGTTGAGTGGC -3'
(R):5'- AATCAACAAGGTGGGCACACCTGG -3'
Sequencing Primer
(F):5'- GGCATTTAGGGCCTCTAGAATAG -3'
(R):5'- atcctcctgccactgcc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation