Incidental Mutation 'R0658:Cep97'
| ID |
62627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep97
|
| Ensembl Gene |
ENSMUSG00000022604 |
| Gene Name |
centrosomal protein 97 |
| Synonyms |
Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik |
| MMRRC Submission |
038843-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0658 (G1)
|
| Quality Score |
138 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55735265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 583
(R583H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023270]
[ENSMUST00000117468]
[ENSMUST00000118500]
|
| AlphaFold |
Q9CZ62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023270
AA Change: R583H
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: R583H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
98 |
259 |
1.8e-12 |
PFAM |
|
IQ
|
549 |
571 |
2e-1 |
SMART |
|
coiled coil region
|
576 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
789 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117468
AA Change: R511H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: R511H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
7 |
187 |
4.1e-12 |
PFAM |
|
Pfam:LRR_8
|
30 |
86 |
1e-7 |
PFAM |
|
Pfam:LRR_4
|
52 |
94 |
3.6e-8 |
PFAM |
|
Pfam:LRR_1
|
53 |
73 |
1.3e-2 |
PFAM |
|
IQ
|
477 |
499 |
2e-1 |
SMART |
|
coiled coil region
|
504 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118500
AA Change: R511H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: R511H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
7 |
187 |
4.1e-12 |
PFAM |
|
Pfam:LRR_8
|
30 |
86 |
1e-7 |
PFAM |
|
Pfam:LRR_4
|
52 |
94 |
3.6e-8 |
PFAM |
|
Pfam:LRR_1
|
53 |
73 |
1.3e-2 |
PFAM |
|
IQ
|
477 |
499 |
2e-1 |
SMART |
|
coiled coil region
|
504 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
717 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0766 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,965,827 (GRCm39) |
|
probably null |
Het |
| Acsl3 |
A |
G |
1: 78,679,004 (GRCm39) |
D520G |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,796,560 (GRCm39) |
V623A |
probably benign |
Het |
| Ak9 |
G |
T |
10: 41,223,218 (GRCm39) |
V454L |
probably damaging |
Het |
| Alpk2 |
C |
A |
18: 65,482,558 (GRCm39) |
K483N |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,893,281 (GRCm39) |
Y974C |
probably damaging |
Het |
| Armc8 |
C |
T |
9: 99,418,211 (GRCm39) |
|
probably benign |
Het |
| Atp2a2 |
C |
T |
5: 122,595,696 (GRCm39) |
|
probably benign |
Het |
| Atrn |
T |
C |
2: 130,812,147 (GRCm39) |
|
probably null |
Het |
| Caps2 |
T |
A |
10: 112,039,943 (GRCm39) |
|
probably benign |
Het |
| Cep76 |
A |
G |
18: 67,756,374 (GRCm39) |
S486P |
probably damaging |
Het |
| Cog7 |
A |
G |
7: 121,555,363 (GRCm39) |
|
probably benign |
Het |
| Commd5 |
T |
A |
15: 76,784,768 (GRCm39) |
V55E |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,874,543 (GRCm39) |
D684E |
possibly damaging |
Het |
| Ctxn2 |
T |
C |
2: 124,989,376 (GRCm39) |
M1T |
probably null |
Het |
| Exph5 |
A |
G |
9: 53,288,775 (GRCm39) |
D1952G |
unknown |
Het |
| Fmo2 |
A |
T |
1: 162,704,343 (GRCm39) |
L521Q |
possibly damaging |
Het |
| Fryl |
T |
A |
5: 73,222,702 (GRCm39) |
T1960S |
probably damaging |
Het |
| G6pd2 |
T |
C |
5: 61,967,017 (GRCm39) |
L264P |
probably damaging |
Het |
| Gne |
A |
T |
4: 44,039,033 (GRCm39) |
V647E |
possibly damaging |
Het |
| Grb14 |
G |
A |
2: 64,745,071 (GRCm39) |
Q96* |
probably null |
Het |
| Gtf3c1 |
A |
G |
7: 125,298,134 (GRCm39) |
F146L |
probably damaging |
Het |
| Gvin3 |
C |
A |
7: 106,202,093 (GRCm39) |
V384L |
possibly damaging |
Het |
| Irak2 |
A |
G |
6: 113,615,525 (GRCm39) |
Y6C |
probably damaging |
Het |
| Kel |
T |
A |
6: 41,679,965 (GRCm39) |
N75I |
probably damaging |
Het |
| Lgr4 |
T |
A |
2: 109,842,132 (GRCm39) |
F706I |
possibly damaging |
Het |
| Lox |
A |
T |
18: 52,661,955 (GRCm39) |
S149R |
probably benign |
Het |
| Lrrc66 |
T |
G |
5: 73,768,287 (GRCm39) |
D218A |
probably benign |
Het |
| Luc7l |
C |
T |
17: 26,485,296 (GRCm39) |
R99W |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,385,968 (GRCm39) |
V327A |
probably benign |
Het |
| Mthfd1l |
G |
T |
10: 3,997,976 (GRCm39) |
|
probably null |
Het |
| Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,175,358 (GRCm39) |
|
probably null |
Het |
| Or5b109 |
A |
T |
19: 13,212,424 (GRCm39) |
D270V |
possibly damaging |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pgf |
C |
T |
12: 85,216,159 (GRCm39) |
R153K |
probably benign |
Het |
| Pramel12 |
A |
T |
4: 143,144,170 (GRCm39) |
Q172L |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,861,835 (GRCm39) |
V485A |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,028 (GRCm39) |
T705A |
probably damaging |
Het |
| Rflna |
A |
C |
5: 125,080,774 (GRCm39) |
D48A |
possibly damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,456 (GRCm39) |
I180N |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,656,475 (GRCm39) |
S94T |
probably damaging |
Het |
| Scn11a |
G |
A |
9: 119,640,226 (GRCm39) |
T223I |
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,436,327 (GRCm39) |
|
probably benign |
Het |
| Septin14 |
T |
C |
5: 129,774,972 (GRCm39) |
I68V |
probably benign |
Het |
| Sil1 |
A |
T |
18: 35,399,910 (GRCm39) |
L365Q |
possibly damaging |
Het |
| Sirt1 |
A |
G |
10: 63,157,515 (GRCm39) |
|
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,147,810 (GRCm39) |
|
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,687,336 (GRCm39) |
T355A |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,141,110 (GRCm39) |
I6074T |
probably damaging |
Het |
| Thbs2 |
T |
A |
17: 14,900,587 (GRCm39) |
H540L |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,766,283 (GRCm39) |
S450P |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,505,000 (GRCm39) |
S54* |
probably null |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Uncx |
G |
T |
5: 139,529,942 (GRCm39) |
C65F |
probably damaging |
Het |
| Vmn1r87 |
A |
T |
7: 12,865,756 (GRCm39) |
M177K |
probably damaging |
Het |
| Vmn2r56 |
A |
T |
7: 12,444,235 (GRCm39) |
C466S |
probably benign |
Het |
| Wnk1 |
G |
A |
6: 119,925,466 (GRCm39) |
P1831S |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,037,901 (GRCm39) |
S476G |
probably benign |
Het |
|
| Other mutations in Cep97 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Cep97
|
APN |
16 |
55,745,323 (GRCm39) |
splice site |
probably benign |
|
|
IGL01142:Cep97
|
APN |
16 |
55,742,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01383:Cep97
|
APN |
16 |
55,731,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01529:Cep97
|
APN |
16 |
55,750,981 (GRCm39) |
splice site |
probably benign |
|
|
IGL01693:Cep97
|
APN |
16 |
55,750,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Cep97
|
APN |
16 |
55,750,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02085:Cep97
|
APN |
16 |
55,735,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02135:Cep97
|
APN |
16 |
55,743,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02582:Cep97
|
APN |
16 |
55,742,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02631:Cep97
|
APN |
16 |
55,742,541 (GRCm39) |
nonsense |
probably null |
|
|
IGL02899:Cep97
|
APN |
16 |
55,738,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03086:Cep97
|
APN |
16 |
55,735,659 (GRCm39) |
missense |
probably benign |
|
|
R0067:Cep97
|
UTSW |
16 |
55,735,924 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0067:Cep97
|
UTSW |
16 |
55,735,924 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0309:Cep97
|
UTSW |
16 |
55,745,421 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0504:Cep97
|
UTSW |
16 |
55,726,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0507:Cep97
|
UTSW |
16 |
55,726,245 (GRCm39) |
splice site |
probably benign |
|
|
R0508:Cep97
|
UTSW |
16 |
55,750,969 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1588:Cep97
|
UTSW |
16 |
55,748,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Cep97
|
UTSW |
16 |
55,748,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Cep97
|
UTSW |
16 |
55,735,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:Cep97
|
UTSW |
16 |
55,748,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Cep97
|
UTSW |
16 |
55,725,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Cep97
|
UTSW |
16 |
55,748,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Cep97
|
UTSW |
16 |
55,745,315 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5520:Cep97
|
UTSW |
16 |
55,735,659 (GRCm39) |
missense |
probably benign |
|
|
R5627:Cep97
|
UTSW |
16 |
55,745,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5632:Cep97
|
UTSW |
16 |
55,735,946 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5903:Cep97
|
UTSW |
16 |
55,739,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Cep97
|
UTSW |
16 |
55,725,820 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6185:Cep97
|
UTSW |
16 |
55,735,455 (GRCm39) |
missense |
probably benign |
|
|
R6381:Cep97
|
UTSW |
16 |
55,742,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7041:Cep97
|
UTSW |
16 |
55,726,117 (GRCm39) |
missense |
probably benign |
|
|
R7056:Cep97
|
UTSW |
16 |
55,725,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Cep97
|
UTSW |
16 |
55,725,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7862:Cep97
|
UTSW |
16 |
55,726,084 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7951:Cep97
|
UTSW |
16 |
55,725,820 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8042:Cep97
|
UTSW |
16 |
55,731,965 (GRCm39) |
missense |
probably benign |
|
|
R8337:Cep97
|
UTSW |
16 |
55,735,394 (GRCm39) |
nonsense |
probably null |
|
|
R8782:Cep97
|
UTSW |
16 |
55,726,084 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8876:Cep97
|
UTSW |
16 |
55,742,467 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9028:Cep97
|
UTSW |
16 |
55,739,915 (GRCm39) |
nonsense |
probably null |
|
|
R9514:Cep97
|
UTSW |
16 |
55,726,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9544:Cep97
|
UTSW |
16 |
55,735,303 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:Cep97
|
UTSW |
16 |
55,748,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTAGGCCCAGAATTTCAGTCC -3'
(R):5'- AAGCCATGTCTCCTGCCACTTCAG -3'
Sequencing Primer
(F):5'- TACACTAATTGCCATGCAGGG -3'
(R):5'- AATGCAGCTGCCACTAAGCT -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation