Incidental Mutation 'R6796:Septin14'
ID |
533006 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Septin14
|
Ensembl Gene |
ENSMUSG00000034219 |
Gene Name |
septin 14 |
Synonyms |
Sept14, 1700016K13Rik |
MMRRC Submission |
044909-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
R6796 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
129760455-129782048 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129774822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 118
(I118L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042266]
[ENSMUST00000182386]
|
AlphaFold |
Q9DA97 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042266
AA Change: I118L
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000044272 Gene: ENSMUSG00000034219 AA Change: I118L
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
48 |
319 |
1.5e-97 |
PFAM |
low complexity region
|
381 |
401 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182386
AA Change: I118L
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138729 Gene: ENSMUSG00000034219 AA Change: I118L
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
48 |
318 |
3.8e-99 |
PFAM |
low complexity region
|
380 |
400 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1109 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
Validation Efficiency |
98% (41/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,620,597 (GRCm39) |
V3950A |
probably damaging |
Het |
App |
A |
G |
16: 84,917,455 (GRCm39) |
I63T |
probably damaging |
Het |
Bpifb4 |
A |
T |
2: 153,803,467 (GRCm39) |
K381N |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,603,607 (GRCm39) |
A529T |
probably damaging |
Het |
Cdh18 |
T |
A |
15: 23,446,159 (GRCm39) |
N536K |
probably damaging |
Het |
Dpy19l1 |
C |
A |
9: 24,414,158 (GRCm39) |
R90L |
possibly damaging |
Het |
E2f3 |
A |
G |
13: 30,102,568 (GRCm39) |
V231A |
possibly damaging |
Het |
F930015N05Rik |
A |
T |
11: 64,326,229 (GRCm39) |
|
probably benign |
Het |
Fcer2a |
T |
C |
8: 3,739,830 (GRCm39) |
H47R |
possibly damaging |
Het |
Hcar2 |
A |
G |
5: 124,003,330 (GRCm39) |
S58P |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,953,558 (GRCm39) |
T625A |
possibly damaging |
Het |
Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
Itgax |
C |
T |
7: 127,734,236 (GRCm39) |
A336V |
probably damaging |
Het |
Lin37 |
A |
T |
7: 30,256,341 (GRCm39) |
V140E |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,874,595 (GRCm39) |
I1341K |
unknown |
Het |
Map4k5 |
T |
C |
12: 69,864,799 (GRCm39) |
I561V |
probably benign |
Het |
Mcc |
A |
G |
18: 44,857,627 (GRCm39) |
S163P |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,290,039 (GRCm39) |
T158A |
probably damaging |
Het |
Or5an6 |
A |
T |
19: 12,372,292 (GRCm39) |
I222F |
probably damaging |
Het |
Or5b119 |
A |
G |
19: 13,457,278 (GRCm39) |
C95R |
probably damaging |
Het |
Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
Pax8 |
A |
T |
2: 24,331,098 (GRCm39) |
M200K |
probably benign |
Het |
Plcd4 |
T |
C |
1: 74,601,229 (GRCm39) |
S498P |
probably benign |
Het |
Poglut1 |
T |
C |
16: 38,349,972 (GRCm39) |
Y267C |
probably damaging |
Het |
Pom121l2 |
T |
C |
13: 22,167,694 (GRCm39) |
I655T |
probably benign |
Het |
Proca1 |
G |
T |
11: 78,085,754 (GRCm39) |
R19L |
probably benign |
Het |
Prr30 |
A |
G |
14: 101,436,380 (GRCm39) |
S61P |
probably benign |
Het |
Ranbp17 |
T |
C |
11: 33,167,398 (GRCm39) |
S1022G |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,387,469 (GRCm39) |
H1037R |
probably damaging |
Het |
Rpl34 |
G |
T |
3: 130,522,926 (GRCm39) |
T6K |
probably damaging |
Het |
Scaper |
T |
C |
9: 55,771,711 (GRCm39) |
T402A |
probably benign |
Het |
Selenow |
A |
T |
7: 15,653,996 (GRCm39) |
V52E |
probably damaging |
Het |
Sis |
A |
T |
3: 72,872,951 (GRCm39) |
N62K |
probably benign |
Het |
Sit1 |
A |
T |
4: 43,482,761 (GRCm39) |
C133S |
probably benign |
Het |
Susd3 |
ACC |
AC |
13: 49,391,041 (GRCm39) |
|
probably null |
Het |
Svep1 |
A |
G |
4: 58,064,275 (GRCm39) |
V3236A |
probably benign |
Het |
Taf12 |
G |
A |
4: 132,016,725 (GRCm39) |
V168I |
possibly damaging |
Het |
Tas2r139 |
A |
T |
6: 42,118,526 (GRCm39) |
R219S |
probably damaging |
Het |
Tmc1 |
A |
T |
19: 20,776,400 (GRCm39) |
V653D |
probably damaging |
Het |
Utp23 |
T |
A |
15: 51,741,007 (GRCm39) |
L30Q |
probably damaging |
Het |
|
Other mutations in Septin14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00228:Septin14
|
APN |
5 |
129,760,715 (GRCm39) |
missense |
probably benign |
0.26 |
IGL01622:Septin14
|
APN |
5 |
129,763,019 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01623:Septin14
|
APN |
5 |
129,763,019 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03088:Septin14
|
APN |
5 |
129,774,797 (GRCm39) |
splice site |
probably benign |
|
R0658:Septin14
|
UTSW |
5 |
129,774,972 (GRCm39) |
missense |
probably benign |
0.30 |
R1485:Septin14
|
UTSW |
5 |
129,770,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R1649:Septin14
|
UTSW |
5 |
129,774,819 (GRCm39) |
missense |
probably benign |
0.19 |
R2518:Septin14
|
UTSW |
5 |
129,776,099 (GRCm39) |
missense |
probably benign |
|
R2973:Septin14
|
UTSW |
5 |
129,776,086 (GRCm39) |
missense |
probably benign |
0.42 |
R4679:Septin14
|
UTSW |
5 |
129,770,090 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4906:Septin14
|
UTSW |
5 |
129,770,030 (GRCm39) |
missense |
probably benign |
0.39 |
R5004:Septin14
|
UTSW |
5 |
129,770,040 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5303:Septin14
|
UTSW |
5 |
129,766,712 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5329:Septin14
|
UTSW |
5 |
129,762,978 (GRCm39) |
critical splice donor site |
probably null |
|
R5393:Septin14
|
UTSW |
5 |
129,760,650 (GRCm39) |
missense |
probably benign |
0.01 |
R5542:Septin14
|
UTSW |
5 |
129,774,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R5725:Septin14
|
UTSW |
5 |
129,766,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R6750:Septin14
|
UTSW |
5 |
129,773,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R6815:Septin14
|
UTSW |
5 |
129,770,051 (GRCm39) |
missense |
probably benign |
|
R7064:Septin14
|
UTSW |
5 |
129,774,870 (GRCm39) |
missense |
probably benign |
0.00 |
R7703:Septin14
|
UTSW |
5 |
129,763,092 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7734:Septin14
|
UTSW |
5 |
129,760,583 (GRCm39) |
missense |
probably benign |
|
R8316:Septin14
|
UTSW |
5 |
129,773,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R8898:Septin14
|
UTSW |
5 |
129,760,642 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0066:Septin14
|
UTSW |
5 |
129,766,602 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Septin14
|
UTSW |
5 |
129,766,628 (GRCm39) |
missense |
probably benign |
0.35 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATTTAGTCTTCTCAGTAAAGGGG -3'
(R):5'- CCCTACAGGAGAAACTGGAATTGG -3'
Sequencing Primer
(F):5'- AGAGCTATCTGGCGTCAAGTC -3'
(R):5'- TGGAATTGGAAAAACAACCCTGATC -3'
|
Posted On |
2018-08-29 |