Incidental Mutation 'R7626:Fam98c'
ID |
589447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam98c
|
Ensembl Gene |
ENSMUSG00000030590 |
Gene Name |
family with sequence similarity 98, member C |
Synonyms |
B230110F21Rik, 1110006G06Rik |
MMRRC Submission |
045690-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R7626 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28851935-28855653 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 28852248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 104
(R104S)
|
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 |
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 |
probably damaging
Transcript: ENSMUST00000134176
AA Change: R104S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120165 Gene: ENSMUSG00000030590 AA Change: R104S
Domain | Start | End | E-Value | Type |
Pfam:DUF2465
|
1 |
125 |
5.9e-45 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000121796 Gene: ENSMUSG00000030590 AA Change: R220S
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: R174S
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: R306S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131477 Gene: ENSMUSG00000030590 AA Change: R306S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Alox5 |
T |
C |
6: 116,390,756 (GRCm39) |
D465G |
possibly damaging |
Het |
Arhgef16 |
T |
A |
4: 154,367,339 (GRCm39) |
K355N |
possibly damaging |
Het |
Camkk2 |
T |
A |
5: 122,902,363 (GRCm39) |
|
probably benign |
Het |
Ccdc171 |
C |
T |
4: 83,499,012 (GRCm39) |
Q237* |
probably null |
Het |
Ces2b |
T |
C |
8: 105,564,017 (GRCm39) |
Y464H |
possibly damaging |
Het |
Cntfr |
A |
G |
4: 41,662,013 (GRCm39) |
F243S |
possibly damaging |
Het |
Crip3 |
A |
T |
17: 46,740,791 (GRCm39) |
R65S |
probably benign |
Het |
Dcn |
A |
G |
10: 97,319,340 (GRCm39) |
Y39C |
possibly damaging |
Het |
Degs2 |
T |
C |
12: 108,658,332 (GRCm39) |
S216G |
possibly damaging |
Het |
Dmxl1 |
A |
G |
18: 50,035,861 (GRCm39) |
I2295V |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,389,511 (GRCm39) |
S794P |
probably damaging |
Het |
Eri1 |
A |
C |
8: 35,941,554 (GRCm39) |
Y264* |
probably null |
Het |
Etl4 |
T |
C |
2: 20,718,189 (GRCm39) |
L179P |
probably damaging |
Het |
F5 |
T |
G |
1: 164,014,481 (GRCm39) |
M584R |
possibly damaging |
Het |
Flad1 |
A |
T |
3: 89,310,718 (GRCm39) |
I443N |
probably benign |
Het |
Hbp1 |
T |
C |
12: 31,993,899 (GRCm39) |
E43G |
probably benign |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Kcnj3 |
T |
A |
2: 55,484,833 (GRCm39) |
C310* |
probably null |
Het |
Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,518,882 (GRCm39) |
V1896A |
possibly damaging |
Het |
Lrfn4 |
C |
A |
19: 4,663,679 (GRCm39) |
R285L |
probably damaging |
Het |
Ltb4r2 |
T |
A |
14: 56,000,338 (GRCm39) |
S320T |
probably damaging |
Het |
Mmd |
G |
T |
11: 90,148,378 (GRCm39) |
R20L |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,608,661 (GRCm39) |
S2146P |
probably benign |
Het |
Nop14 |
A |
G |
5: 34,809,135 (GRCm39) |
F319L |
probably damaging |
Het |
Numa1 |
C |
A |
7: 101,648,630 (GRCm39) |
T787K |
probably benign |
Het |
Or10q12 |
T |
G |
19: 13,745,709 (GRCm39) |
M1R |
probably null |
Het |
Or2t46 |
A |
C |
11: 58,471,999 (GRCm39) |
T110P |
probably damaging |
Het |
Or6c208 |
T |
G |
10: 129,223,726 (GRCm39) |
C75G |
possibly damaging |
Het |
Patj |
T |
C |
4: 98,435,224 (GRCm39) |
V2A |
probably benign |
Het |
Pisd |
T |
C |
5: 32,898,032 (GRCm39) |
H52R |
probably benign |
Het |
Plekhg6 |
A |
T |
6: 125,340,631 (GRCm39) |
D576E |
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,310,110 (GRCm39) |
H68L |
probably benign |
Het |
Ppp1r37 |
T |
A |
7: 19,295,778 (GRCm39) |
I60F |
probably damaging |
Het |
Ppp2r1b |
C |
T |
9: 50,789,476 (GRCm39) |
T513M |
possibly damaging |
Het |
Pramel32 |
A |
T |
4: 88,548,279 (GRCm39) |
I42N |
probably damaging |
Het |
Rhobtb2 |
C |
A |
14: 70,034,386 (GRCm39) |
A280S |
probably damaging |
Het |
Rnf40 |
A |
G |
7: 127,189,047 (GRCm39) |
D140G |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,555,397 (GRCm39) |
L653P |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,074,995 (GRCm39) |
D500E |
probably benign |
Het |
Slc15a1 |
A |
T |
14: 121,713,377 (GRCm39) |
D383E |
probably benign |
Het |
Smarcad1 |
C |
A |
6: 65,073,033 (GRCm39) |
S604R |
possibly damaging |
Het |
St7 |
A |
G |
6: 17,934,216 (GRCm39) |
T533A |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,122,451 (GRCm39) |
T442S |
probably benign |
Het |
Tbx2 |
A |
G |
11: 85,731,622 (GRCm39) |
T640A |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,542,221 (GRCm39) |
N1948K |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,551,268 (GRCm39) |
|
probably null |
Het |
Tmem135 |
A |
T |
7: 88,805,718 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
T |
15: 76,518,136 (GRCm39) |
L582Q |
probably null |
Het |
Unc13c |
T |
A |
9: 73,641,799 (GRCm39) |
K1231N |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,832,192 (GRCm39) |
Y729* |
probably null |
Het |
Zcchc2 |
A |
G |
1: 105,928,742 (GRCm39) |
T334A |
possibly damaging |
Het |
Zfp655 |
T |
C |
5: 145,173,917 (GRCm39) |
L136P |
probably damaging |
Het |
Zfp729a |
A |
T |
13: 67,768,437 (GRCm39) |
C597* |
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 |
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 |
|
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'- CCTCTAGAATAGGGAAGGCCAG -3'
(R):5'- ACCTACTCTGCATGTCAGCTAG -3'
Sequencing Primer
(F):5'- AGGCTTGCCGAGGATAACC -3'
(R):5'- CCCCTTTGAGATATAGAGTCCTAGG -3'
|
Posted On |
2019-10-24 |