Incidental Mutation 'R2994:CK137956'
| ID |
257140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
CK137956
|
| Ensembl Gene |
ENSMUSG00000028813 |
| Gene Name |
cDNA sequence CK137956 |
| Synonyms |
|
| MMRRC Submission |
040529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R2994 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
127821385-127864744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127845300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 148
(T148A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030614]
|
| AlphaFold |
B1AYM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030614
AA Change: T148A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000030614
Gene: ENSMUSG00000028813
AA Change: T148A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4688
|
197 |
596 |
3.8e-249 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,603,538 (GRCm39) |
S577P |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,251,785 (GRCm39) |
T1826A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Btnl6 |
C |
A |
17: 34,734,498 (GRCm39) |
R88I |
possibly damaging |
Het |
| Cfap52 |
T |
A |
11: 67,830,617 (GRCm39) |
Y281F |
probably benign |
Het |
| Fpr3 |
C |
T |
17: 18,191,130 (GRCm39) |
Q134* |
probably null |
Het |
| Gbp4 |
A |
T |
5: 105,284,886 (GRCm39) |
M1K |
probably null |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
A |
G |
9: 72,638,185 (GRCm39) |
D440G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,490,162 (GRCm39) |
D522N |
probably damaging |
Het |
| Oprk1 |
T |
C |
1: 5,672,955 (GRCm39) |
V364A |
probably benign |
Het |
| Or1e35 |
T |
C |
11: 73,797,541 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or5d18 |
A |
G |
2: 87,865,301 (GRCm39) |
Y61H |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,027,473 (GRCm39) |
|
probably null |
Het |
| Psmd11 |
T |
C |
11: 80,351,493 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,885,610 (GRCm39) |
D576V |
probably damaging |
Het |
| Rundc3a |
C |
T |
11: 102,291,489 (GRCm39) |
T327I |
probably damaging |
Het |
| Sh3rf1 |
A |
G |
8: 61,825,609 (GRCm39) |
T535A |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,563 (GRCm39) |
E101V |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,553,802 (GRCm39) |
T406S |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,090,215 (GRCm39) |
E609G |
probably damaging |
Het |
| Zfp459 |
G |
A |
13: 67,556,853 (GRCm39) |
P77S |
possibly damaging |
Het |
| Zfp612 |
A |
G |
8: 110,816,049 (GRCm39) |
K380E |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,228 (GRCm39) |
E527G |
probably damaging |
Het |
|
| Other mutations in CK137956 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:CK137956
|
APN |
4 |
127,829,643 (GRCm39) |
missense |
probably benign |
|
|
IGL01365:CK137956
|
APN |
4 |
127,845,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01563:CK137956
|
APN |
4 |
127,864,428 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01834:CK137956
|
APN |
4 |
127,840,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:CK137956
|
UTSW |
4 |
127,840,585 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0456:CK137956
|
UTSW |
4 |
127,839,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0492:CK137956
|
UTSW |
4 |
127,845,093 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1793:CK137956
|
UTSW |
4 |
127,845,242 (GRCm39) |
missense |
probably benign |
|
|
R1869:CK137956
|
UTSW |
4 |
127,864,327 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1932:CK137956
|
UTSW |
4 |
127,840,651 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2011:CK137956
|
UTSW |
4 |
127,844,829 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2030:CK137956
|
UTSW |
4 |
127,845,180 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2032:CK137956
|
UTSW |
4 |
127,839,069 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2135:CK137956
|
UTSW |
4 |
127,845,433 (GRCm39) |
splice site |
probably benign |
|
|
R3608:CK137956
|
UTSW |
4 |
127,845,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3895:CK137956
|
UTSW |
4 |
127,840,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4165:CK137956
|
UTSW |
4 |
127,864,522 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5610:CK137956
|
UTSW |
4 |
127,840,440 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6861:CK137956
|
UTSW |
4 |
127,864,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7149:CK137956
|
UTSW |
4 |
127,864,626 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R8132:CK137956
|
UTSW |
4 |
127,845,075 (GRCm39) |
nonsense |
probably null |
|
|
R8688:CK137956
|
UTSW |
4 |
127,844,739 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACACTCTTGACCTTGGC -3'
(R):5'- AATGGCCTAGTGGGTGATGC -3'
Sequencing Primer
(F):5'- ATGCCGGTGACTGTAGACATG -3'
(R):5'- CTGCTGGCAGAGTCGTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation