Incidental Mutation 'R5520:Cep97'
ID |
431521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep97
|
Ensembl Gene |
ENSMUSG00000022604 |
Gene Name |
centrosomal protein 97 |
Synonyms |
Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik |
MMRRC Submission |
043079-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5520 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55735659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 380
(S380P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023270]
[ENSMUST00000117468]
[ENSMUST00000118500]
|
AlphaFold |
Q9CZ62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023270
AA Change: S452P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023270 Gene: ENSMUSG00000022604 AA Change: S452P
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: S380P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112687 Gene: ENSMUSG00000022604 AA Change: S380P
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: S380P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112663 Gene: ENSMUSG00000022604 AA Change: S380P
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.8%
- 20x: 88.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
A |
4: 144,504,594 (GRCm39) |
T186S |
probably benign |
Het |
AI467606 |
C |
T |
7: 126,691,998 (GRCm39) |
P191L |
probably benign |
Het |
Aoc1l1 |
C |
A |
6: 48,952,728 (GRCm39) |
Q218K |
possibly damaging |
Het |
Arl9 |
T |
C |
5: 77,154,440 (GRCm39) |
V56A |
probably damaging |
Het |
Cacng5 |
T |
C |
11: 107,768,248 (GRCm39) |
Q253R |
probably benign |
Het |
Cc2d1b |
T |
C |
4: 108,483,556 (GRCm39) |
M331T |
possibly damaging |
Het |
Clpx |
A |
T |
9: 65,224,730 (GRCm39) |
K153* |
probably null |
Het |
Dclk2 |
A |
G |
3: 86,827,147 (GRCm39) |
S111P |
probably damaging |
Het |
E2f7 |
A |
G |
10: 110,595,806 (GRCm39) |
E167G |
probably damaging |
Het |
Edn1 |
T |
C |
13: 42,455,436 (GRCm39) |
|
probably null |
Het |
Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
Fbxw18 |
G |
T |
9: 109,520,589 (GRCm39) |
H257N |
probably benign |
Het |
Ftsj3 |
T |
C |
11: 106,146,414 (GRCm39) |
T22A |
probably benign |
Het |
Gm17019 |
A |
T |
5: 15,082,819 (GRCm39) |
M45K |
possibly damaging |
Het |
Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
Grk1 |
T |
A |
8: 13,459,305 (GRCm39) |
D285E |
probably benign |
Het |
Herc6 |
A |
T |
6: 57,624,105 (GRCm39) |
D625V |
possibly damaging |
Het |
Igkv1-135 |
C |
T |
6: 67,587,324 (GRCm39) |
P65L |
possibly damaging |
Het |
Lepr |
T |
C |
4: 101,602,734 (GRCm39) |
L174P |
probably benign |
Het |
Nphp3 |
A |
G |
9: 103,901,872 (GRCm39) |
S689G |
probably benign |
Het |
Or14c44 |
T |
A |
7: 86,062,064 (GRCm39) |
S165T |
probably benign |
Het |
Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
Phf8-ps |
A |
G |
17: 33,284,367 (GRCm39) |
Y812H |
probably benign |
Het |
Plxnb2 |
T |
G |
15: 89,051,746 (GRCm39) |
T158P |
possibly damaging |
Het |
Pramel32 |
A |
C |
4: 88,548,277 (GRCm39) |
S43A |
probably damaging |
Het |
R3hcc1 |
T |
A |
14: 69,936,057 (GRCm39) |
K437* |
probably null |
Het |
Rnf213 |
C |
A |
11: 119,324,325 (GRCm39) |
H1428Q |
probably damaging |
Het |
Ro60 |
A |
T |
1: 143,646,509 (GRCm39) |
S79T |
probably benign |
Het |
Spata31e2 |
A |
T |
1: 26,724,900 (GRCm39) |
N93K |
probably benign |
Het |
Ssx2ip |
G |
A |
3: 146,143,066 (GRCm39) |
R548H |
probably benign |
Het |
Trim23 |
C |
T |
13: 104,324,035 (GRCm39) |
R165C |
probably damaging |
Het |
Ulk2 |
T |
G |
11: 61,698,970 (GRCm39) |
T405P |
probably damaging |
Het |
Unkl |
G |
A |
17: 25,424,584 (GRCm39) |
V204I |
probably damaging |
Het |
Vmn1r43 |
T |
C |
6: 89,846,728 (GRCm39) |
T253A |
probably damaging |
Het |
Zfp534 |
T |
C |
4: 147,759,887 (GRCm39) |
I261V |
possibly damaging |
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 |
R0658:Cep97
|
UTSW |
16 |
55,735,265 (GRCm39) |
missense |
probably benign |
0.09 |
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 |
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'- TCTCTGAAGTGGCAGGAGAC -3'
(R):5'- AAACTGTAGTCTGCTCTCTTCAG -3'
Sequencing Primer
(F):5'- AGACATGGCTTCCTCGCTG -3'
(R):5'- AGAGTCCACTTTTATGCCAGTTG -3'
|
Posted On |
2016-10-05 |