Incidental Mutation 'R5315:Gm42669'
| ID |
405788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm42669
|
| Ensembl Gene |
ENSMUSG00000106631 |
| Gene Name |
predicted gene 42669 |
| Synonyms |
|
| MMRRC Submission |
042898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R5315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
107655487-107728462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107656103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1301
(I1301F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060553]
[ENSMUST00000100951]
[ENSMUST00000112671]
[ENSMUST00000152474]
[ENSMUST00000160160]
[ENSMUST00000211896]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060553
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100951
AA Change: I789F
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: I789F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
340 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
946 |
957 |
N/A |
INTRINSIC |
|
Pfam:DUF4596
|
1195 |
1239 |
2.6e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112671
AA Change: I789F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: I789F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
340 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
946 |
957 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133800
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000143074
AA Change: I206F
|
| SMART Domains |
Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631
AA Change: I206F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152474
|
| SMART Domains |
Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
339 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160160
|
| SMART Domains |
Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4580
|
10 |
140 |
1.5e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211896
AA Change: I1301F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
| AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
| Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
| Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
| Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
| Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
| Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
| Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
| Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
| Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
| S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
| Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
| Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
| Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
probably benign |
Het |
|
| Other mutations in Gm42669 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0384:Gm42669
|
UTSW |
5 |
107,656,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1554:Gm42669
|
UTSW |
5 |
107,655,653 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1797:Gm42669
|
UTSW |
5 |
107,655,683 (GRCm39) |
nonsense |
probably null |
|
|
R1956:Gm42669
|
UTSW |
5 |
107,656,738 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1957:Gm42669
|
UTSW |
5 |
107,656,738 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2091:Gm42669
|
UTSW |
5 |
107,655,776 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4634:Gm42669
|
UTSW |
5 |
107,656,079 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4912:Gm42669
|
UTSW |
5 |
107,656,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Gm42669
|
UTSW |
5 |
107,656,142 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7886:Gm42669
|
UTSW |
5 |
107,656,572 (GRCm39) |
missense |
|
|
|
R9244:Gm42669
|
UTSW |
5 |
107,656,370 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9521:Gm42669
|
UTSW |
5 |
107,655,892 (GRCm39) |
missense |
|
|
|
Z1177:Gm42669
|
UTSW |
5 |
107,726,456 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATGAGGGCTCACACGAC -3'
(R):5'- CTGAACCTGCTGAGTACCTG -3'
Sequencing Primer
(F):5'- CGACAGAGGCATCTCCAAGTG -3'
(R):5'- AACCTGCTGAGTACCTGAGCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation