Incidental Mutation 'R6429:Gm15448'
| ID |
518426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm15448
|
| Ensembl Gene |
ENSMUSG00000074419 |
| Gene Name |
predicted gene 15448 |
| Synonyms |
ENSMUSG00000074419 |
| MMRRC Submission |
044567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R6429 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3816781-3825687 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3822346 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 432
(H432Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094911]
[ENSMUST00000108619]
[ENSMUST00000108620]
[ENSMUST00000153846]
[ENSMUST00000189095]
|
| AlphaFold |
F6PZL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094911
|
| SMART Domains |
Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
40 |
105 |
3.26e0 |
SMART |
|
IG
|
129 |
315 |
1.37e-1 |
SMART |
|
IG_like
|
237 |
302 |
2.2e-1 |
SMART |
|
IG
|
328 |
415 |
6.31e-1 |
SMART |
|
IG
|
430 |
519 |
8.01e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000108619
AA Change: H432Q
|
| SMART Domains |
Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: H432Q
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
40 |
105 |
3.26e0 |
SMART |
|
IG
|
129 |
315 |
1.37e-1 |
SMART |
|
IG_like
|
237 |
302 |
2.2e-1 |
SMART |
|
IG
|
328 |
415 |
6.31e-1 |
SMART |
|
IG_like
|
429 |
517 |
6.02e0 |
SMART |
|
IG
|
529 |
618 |
8.01e-3 |
SMART |
|
low complexity region
|
637 |
646 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108620
|
| SMART Domains |
Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
40 |
105 |
3.26e0 |
SMART |
|
IG
|
129 |
315 |
1.37e-1 |
SMART |
|
IG_like
|
237 |
302 |
2.2e-1 |
SMART |
|
IG
|
328 |
415 |
6.31e-1 |
SMART |
|
IG
|
430 |
519 |
8.01e-3 |
SMART |
|
low complexity region
|
538 |
547 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153846
AA Change: H432Q
|
| SMART Domains |
Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: H432Q
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
7 |
96 |
8.01e-3 |
SMART |
|
low complexity region
|
132 |
141 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189095
AA Change: H432Q
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: H432Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG_like
|
40 |
105 |
1.3e-2 |
SMART |
|
IG
|
129 |
315 |
5.7e-4 |
SMART |
|
IG_like
|
237 |
302 |
9e-4 |
SMART |
|
IG
|
328 |
415 |
2.6e-3 |
SMART |
|
IG_like
|
429 |
517 |
2.4e-2 |
SMART |
|
IG
|
529 |
618 |
3.3e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130019O22Rik |
T |
C |
7: 127,385,042 (GRCm38) |
|
probably benign |
Het |
| Acacb |
G |
A |
5: 114,228,591 (GRCm38) |
E1565K |
probably damaging |
Het |
| Amy1 |
T |
C |
3: 113,569,509 (GRCm38) |
N63S |
probably damaging |
Het |
| Arhgef15 |
G |
T |
11: 68,947,796 (GRCm38) |
N591K |
probably damaging |
Het |
| AW551984 |
A |
G |
9: 39,600,614 (GRCm38) |
S34P |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,432,091 (GRCm38) |
D127G |
probably damaging |
Het |
| Ccdc87 |
T |
A |
19: 4,841,235 (GRCm38) |
V585E |
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,421,345 (GRCm38) |
I223T |
probably damaging |
Het |
| Dgkq |
C |
T |
5: 108,653,708 (GRCm38) |
V495M |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,367,601 (GRCm38) |
I570T |
possibly damaging |
Het |
| Dstyk |
C |
T |
1: 132,449,804 (GRCm38) |
Q383* |
probably null |
Het |
| Emilin2 |
C |
A |
17: 71,310,956 (GRCm38) |
|
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,515,567 (GRCm38) |
I1163M |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,090,751 (GRCm38) |
E1008K |
possibly damaging |
Het |
| Gm35315 |
A |
T |
5: 110,078,659 (GRCm38) |
Y305N |
possibly damaging |
Het |
| Grhl3 |
T |
A |
4: 135,557,196 (GRCm38) |
D195V |
probably damaging |
Het |
| Il33 |
T |
C |
19: 29,952,000 (GRCm38) |
F41S |
probably benign |
Het |
| Il4 |
A |
G |
11: 53,613,909 (GRCm38) |
S15P |
possibly damaging |
Het |
| Inf2 |
C |
T |
12: 112,604,256 (GRCm38) |
P410S |
probably benign |
Het |
| Kalrn |
T |
A |
16: 34,332,164 (GRCm38) |
D349V |
possibly damaging |
Het |
| Krt4 |
A |
G |
15: 101,922,794 (GRCm38) |
M224T |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,461,287 (GRCm38) |
S3516N |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,401,594 (GRCm38) |
|
probably null |
Het |
| Msr1 |
G |
A |
8: 39,615,817 (GRCm38) |
P213S |
probably damaging |
Het |
| Nptx1 |
G |
T |
11: 119,544,721 (GRCm38) |
C256* |
probably null |
Het |
| Nr1d1 |
T |
C |
11: 98,772,014 (GRCm38) |
Y51C |
probably damaging |
Het |
| Olfr1205 |
G |
A |
2: 88,831,525 (GRCm38) |
R136Q |
probably benign |
Het |
| Panx3 |
T |
C |
9: 37,661,165 (GRCm38) |
D363G |
probably damaging |
Het |
| Prkag1 |
A |
G |
15: 98,814,523 (GRCm38) |
F143L |
probably damaging |
Het |
| Ptger4 |
T |
C |
15: 5,242,997 (GRCm38) |
K72R |
possibly damaging |
Het |
| Pvrig |
A |
G |
5: 138,342,050 (GRCm38) |
T28A |
probably benign |
Het |
| Rhod |
C |
T |
19: 4,426,105 (GRCm38) |
C206Y |
probably benign |
Het |
| Rngtt |
C |
A |
4: 33,320,606 (GRCm38) |
S51* |
probably null |
Het |
| Rreb1 |
T |
G |
13: 37,932,129 (GRCm38) |
S1155A |
probably benign |
Het |
| Scn9a |
A |
C |
2: 66,526,963 (GRCm38) |
I998S |
possibly damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,773,911 (GRCm38) |
F50L |
probably damaging |
Het |
| Six4 |
A |
T |
12: 73,103,473 (GRCm38) |
V766D |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,556,928 (GRCm38) |
I421T |
probably damaging |
Het |
| Son |
T |
A |
16: 91,658,166 (GRCm38) |
M1267K |
probably benign |
Het |
| Styk1 |
T |
A |
6: 131,310,064 (GRCm38) |
D156V |
possibly damaging |
Het |
| Supt3 |
A |
G |
17: 45,119,143 (GRCm38) |
E361G |
probably benign |
Het |
| Tbx3 |
T |
A |
5: 119,674,191 (GRCm38) |
Y185* |
probably null |
Het |
| Tmem2 |
T |
C |
19: 21,801,908 (GRCm38) |
C361R |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 64,268,504 (GRCm38) |
T531S |
probably benign |
Het |
| Tspan32 |
T |
A |
7: 143,018,742 (GRCm38) |
W172R |
possibly damaging |
Het |
| Ttc26 |
T |
A |
6: 38,398,313 (GRCm38) |
S250T |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,762,430 (GRCm38) |
|
probably null |
Het |
| Vmn2r70 |
T |
A |
7: 85,559,068 (GRCm38) |
I734F |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,024,199 (GRCm38) |
T618A |
probably benign |
Het |
| Wac |
T |
A |
18: 7,920,163 (GRCm38) |
V339E |
probably damaging |
Het |
| Wrn |
G |
A |
8: 33,342,996 (GRCm38) |
T156M |
probably damaging |
Het |
| Zeb1 |
T |
A |
18: 5,770,498 (GRCm38) |
C884S |
probably damaging |
Het |
| Zmpste24 |
A |
G |
4: 121,095,670 (GRCm38) |
V10A |
probably damaging |
Het |
|
| Other mutations in Gm15448 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Gm15448
|
APN |
7 |
3,823,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01675:Gm15448
|
APN |
7 |
3,822,608 (GRCm38) |
splice site |
probably benign |
|
|
IGL02040:Gm15448
|
APN |
7 |
3,821,517 (GRCm38) |
splice site |
probably benign |
|
|
IGL02547:Gm15448
|
APN |
7 |
3,821,661 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02749:Gm15448
|
APN |
7 |
3,822,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02822:Gm15448
|
APN |
7 |
3,816,918 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL02883:Gm15448
|
APN |
7 |
3,822,180 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03140:Gm15448
|
APN |
7 |
3,823,248 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03185:Gm15448
|
APN |
7 |
3,823,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03212:Gm15448
|
APN |
7 |
3,823,133 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0347:Gm15448
|
UTSW |
7 |
3,822,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0652:Gm15448
|
UTSW |
7 |
3,822,763 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0668:Gm15448
|
UTSW |
7 |
3,822,700 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0724:Gm15448
|
UTSW |
7 |
3,816,872 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0735:Gm15448
|
UTSW |
7 |
3,821,782 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1074:Gm15448
|
UTSW |
7 |
3,823,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1339:Gm15448
|
UTSW |
7 |
3,822,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1541:Gm15448
|
UTSW |
7 |
3,816,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1570:Gm15448
|
UTSW |
7 |
3,823,061 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1880:Gm15448
|
UTSW |
7 |
3,824,951 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1892:Gm15448
|
UTSW |
7 |
3,824,574 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1909:Gm15448
|
UTSW |
7 |
3,822,919 (GRCm38) |
missense |
probably benign |
0.31 |
|
R2881:Gm15448
|
UTSW |
7 |
3,825,641 (GRCm38) |
start codon destroyed |
probably null |
0.98 |
|
R2967:Gm15448
|
UTSW |
7 |
3,822,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2983:Gm15448
|
UTSW |
7 |
3,821,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4213:Gm15448
|
UTSW |
7 |
3,821,554 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4319:Gm15448
|
UTSW |
7 |
3,822,755 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4320:Gm15448
|
UTSW |
7 |
3,822,755 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4321:Gm15448
|
UTSW |
7 |
3,822,755 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4322:Gm15448
|
UTSW |
7 |
3,822,755 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4323:Gm15448
|
UTSW |
7 |
3,822,755 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R4536:Gm15448
|
UTSW |
7 |
3,822,252 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4597:Gm15448
|
UTSW |
7 |
3,822,155 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4713:Gm15448
|
UTSW |
7 |
3,822,681 (GRCm38) |
nonsense |
probably null |
|
|
R4725:Gm15448
|
UTSW |
7 |
3,821,548 (GRCm38) |
missense |
probably benign |
|
|
R4934:Gm15448
|
UTSW |
7 |
3,822,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4971:Gm15448
|
UTSW |
7 |
3,822,806 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5138:Gm15448
|
UTSW |
7 |
3,824,557 (GRCm38) |
nonsense |
probably null |
|
|
R5805:Gm15448
|
UTSW |
7 |
3,822,623 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5824:Gm15448
|
UTSW |
7 |
3,824,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5841:Gm15448
|
UTSW |
7 |
3,822,899 (GRCm38) |
nonsense |
probably null |
|
|
R6027:Gm15448
|
UTSW |
7 |
3,824,639 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6214:Gm15448
|
UTSW |
7 |
3,821,718 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6329:Gm15448
|
UTSW |
7 |
3,822,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6650:Gm15448
|
UTSW |
7 |
3,816,899 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6681:Gm15448
|
UTSW |
7 |
3,822,252 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6961:Gm15448
|
UTSW |
7 |
3,825,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6989:Gm15448
|
UTSW |
7 |
3,822,164 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7025:Gm15448
|
UTSW |
7 |
3,821,262 (GRCm38) |
nonsense |
probably null |
|
|
R7071:Gm15448
|
UTSW |
7 |
3,821,668 (GRCm38) |
missense |
unknown |
|
|
R7194:Gm15448
|
UTSW |
7 |
3,824,793 (GRCm38) |
missense |
|
|
|
R7215:Gm15448
|
UTSW |
7 |
3,822,311 (GRCm38) |
missense |
unknown |
|
|
R7580:Gm15448
|
UTSW |
7 |
3,824,612 (GRCm38) |
missense |
unknown |
|
|
R7776:Gm15448
|
UTSW |
7 |
3,823,247 (GRCm38) |
missense |
unknown |
|
|
R7863:Gm15448
|
UTSW |
7 |
3,824,802 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7909:Gm15448
|
UTSW |
7 |
3,821,709 (GRCm38) |
missense |
unknown |
|
|
R8131:Gm15448
|
UTSW |
7 |
3,822,162 (GRCm38) |
nonsense |
probably null |
|
|
R8178:Gm15448
|
UTSW |
7 |
3,821,261 (GRCm38) |
missense |
unknown |
|
|
R8188:Gm15448
|
UTSW |
7 |
3,823,127 (GRCm38) |
missense |
unknown |
|
|
R8220:Gm15448
|
UTSW |
7 |
3,822,904 (GRCm38) |
missense |
unknown |
|
|
R8226:Gm15448
|
UTSW |
7 |
3,825,110 (GRCm38) |
missense |
|
|
|
R8441:Gm15448
|
UTSW |
7 |
3,823,302 (GRCm38) |
nonsense |
probably null |
|
|
R8739:Gm15448
|
UTSW |
7 |
3,825,189 (GRCm38) |
missense |
|
|
|
R8785:Gm15448
|
UTSW |
7 |
3,816,929 (GRCm38) |
missense |
unknown |
|
|
R8912:Gm15448
|
UTSW |
7 |
3,822,819 (GRCm38) |
missense |
unknown |
|
|
R8941:Gm15448
|
UTSW |
7 |
3,822,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8990:Gm15448
|
UTSW |
7 |
3,821,274 (GRCm38) |
missense |
unknown |
|
|
R9049:Gm15448
|
UTSW |
7 |
3,816,891 (GRCm38) |
missense |
unknown |
|
|
R9090:Gm15448
|
UTSW |
7 |
3,816,998 (GRCm38) |
missense |
unknown |
|
|
R9134:Gm15448
|
UTSW |
7 |
3,822,183 (GRCm38) |
missense |
|
|
|
R9136:Gm15448
|
UTSW |
7 |
3,823,286 (GRCm38) |
missense |
|
|
|
R9244:Gm15448
|
UTSW |
7 |
3,822,227 (GRCm38) |
missense |
unknown |
|
|
R9271:Gm15448
|
UTSW |
7 |
3,816,998 (GRCm38) |
missense |
unknown |
|
|
R9328:Gm15448
|
UTSW |
7 |
3,824,581 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAGAGGCTGACCACTCAG -3'
(R):5'- ATGGAGAGCCTGTGTTCTCG -3'
Sequencing Primer
(F):5'- GCACCATAGCATCTGTATTGGC -3'
(R):5'- TCTCGAACACAGCCCTGATTGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation