Incidental Mutation 'R9429:Gm14496'
| ID |
712790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14496
|
| Ensembl Gene |
ENSMUSG00000098505 |
| Gene Name |
predicted gene 14496 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9429 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181633019-181642880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 181637934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 336
(T336I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071760]
|
| AlphaFold |
K7N5U4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071760
AA Change: T336I
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: T336I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
456 |
1.3e-30 |
PFAM |
|
Pfam:NCD3G
|
508 |
562 |
1.9e-18 |
PFAM |
|
Pfam:7tm_3
|
595 |
830 |
7.9e-55 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
T |
8: 33,919,165 (GRCm39) |
|
probably benign |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam7 |
G |
C |
14: 68,771,080 (GRCm39) |
H15Q |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,567,468 (GRCm39) |
I5235N |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,741,165 (GRCm39) |
C100G |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,649 (GRCm39) |
T1063A |
probably benign |
Het |
| Atmin |
A |
G |
8: 117,670,307 (GRCm39) |
R48G |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,346,565 (GRCm39) |
E441G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,389,755 (GRCm39) |
V505A |
possibly damaging |
Het |
| Chd5 |
T |
C |
4: 152,447,364 (GRCm39) |
V471A |
probably damaging |
Het |
| Cma2 |
A |
G |
14: 56,210,276 (GRCm39) |
I110V |
possibly damaging |
Het |
| Cnst |
A |
C |
1: 179,432,566 (GRCm39) |
N243T |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,310,439 (GRCm39) |
N1203I |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,731,585 (GRCm39) |
H1556L |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,375,556 (GRCm39) |
K185N |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 30,997,499 (GRCm39) |
Q2620* |
probably null |
Het |
| Dusp10 |
A |
C |
1: 183,801,091 (GRCm39) |
D286A |
probably benign |
Het |
| Erich6 |
A |
G |
3: 58,536,935 (GRCm39) |
V252A |
possibly damaging |
Het |
| Fhod1 |
A |
G |
8: 106,057,139 (GRCm39) |
L945P |
probably damaging |
Het |
| Foxh1 |
C |
T |
15: 76,553,442 (GRCm39) |
R120Q |
probably null |
Het |
| Frmd4b |
T |
C |
6: 97,279,252 (GRCm39) |
D591G |
probably damaging |
Het |
| Gbe1 |
G |
A |
16: 70,292,203 (GRCm39) |
V512I |
probably benign |
Het |
| Ghitm |
A |
G |
14: 36,852,655 (GRCm39) |
S142P |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,091,172 (GRCm39) |
A808T |
possibly damaging |
Het |
| Ido2 |
T |
C |
8: 25,037,194 (GRCm39) |
T171A |
probably damaging |
Het |
| Kctd19 |
A |
T |
8: 106,109,652 (GRCm39) |
I930N |
probably damaging |
Het |
| Kctd2 |
T |
C |
11: 115,318,277 (GRCm39) |
Y187H |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,124,203 (GRCm39) |
T246A |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,118,449 (GRCm39) |
M2554V |
|
Het |
| Laptm5 |
A |
G |
4: 130,655,961 (GRCm39) |
Y93C |
|
Het |
| Mroh2b |
T |
A |
15: 4,963,907 (GRCm39) |
L833Q |
probably damaging |
Het |
| Ms4a12 |
T |
C |
19: 11,193,424 (GRCm39) |
D187G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,098 (GRCm39) |
T1866I |
unknown |
Het |
| Myo1a |
G |
T |
10: 127,543,247 (GRCm39) |
D168Y |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,559,892 (GRCm39) |
S1005L |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,308,592 (GRCm39) |
M523L |
probably benign |
Het |
| Nt5c2 |
T |
A |
19: 46,877,459 (GRCm39) |
H494L |
probably benign |
Het |
| Oasl2 |
G |
A |
5: 115,043,040 (GRCm39) |
V271I |
probably benign |
Het |
| Or13a1 |
T |
G |
6: 116,471,292 (GRCm39) |
S241A |
probably damaging |
Het |
| Or52s1 |
C |
T |
7: 102,861,871 (GRCm39) |
A268V |
possibly damaging |
Het |
| Or5e1 |
G |
T |
7: 108,354,412 (GRCm39) |
M116I |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,351,489 (GRCm39) |
T1006A |
probably benign |
Het |
| Phyhd1 |
C |
A |
2: 30,156,917 (GRCm39) |
F19L |
probably benign |
Het |
| Pter |
T |
A |
2: 12,985,112 (GRCm39) |
D147E |
probably benign |
Het |
| Rps6ka1 |
A |
C |
4: 133,598,900 (GRCm39) |
L90V |
probably damaging |
Het |
| Rrp15 |
A |
T |
1: 186,481,368 (GRCm39) |
D46E |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,809,459 (GRCm39) |
F789L |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,801,294 (GRCm39) |
K456R |
probably benign |
Het |
| Septin11 |
G |
A |
5: 93,321,397 (GRCm39) |
|
probably null |
Het |
| Sowahb |
T |
C |
5: 93,191,080 (GRCm39) |
I546M |
possibly damaging |
Het |
| Spata31 |
C |
A |
13: 65,070,336 (GRCm39) |
T828K |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,034 (GRCm39) |
T147A |
probably benign |
Het |
| Tcf3 |
G |
A |
10: 80,252,436 (GRCm39) |
P350S |
probably benign |
Het |
| Tek |
A |
G |
4: 94,715,515 (GRCm39) |
D402G |
probably benign |
Het |
| Themis3 |
T |
C |
17: 66,866,665 (GRCm39) |
R192G |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
| Trpc3 |
T |
G |
3: 36,705,777 (GRCm39) |
I473L |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,620,085 (GRCm39) |
L4Q |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,750,226 (GRCm39) |
Y5* |
probably null |
Het |
| Vav3 |
T |
A |
3: 109,564,561 (GRCm39) |
Y673* |
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,237 (GRCm39) |
T180S |
probably benign |
Het |
| Vmn1r90 |
A |
T |
7: 14,295,647 (GRCm39) |
N150K |
probably damaging |
Het |
| Zbed6 |
A |
C |
1: 133,585,453 (GRCm39) |
I628R |
probably damaging |
Het |
| Zfp1007 |
A |
T |
5: 109,824,334 (GRCm39) |
L372* |
probably null |
Het |
| Zfp750 |
G |
A |
11: 121,404,693 (GRCm39) |
R61C |
probably damaging |
Het |
| Zfp87 |
A |
G |
13: 74,520,703 (GRCm39) |
I125T |
probably damaging |
Het |
| Zfta |
T |
C |
19: 7,399,594 (GRCm39) |
L447P |
probably damaging |
Het |
|
| Other mutations in Gm14496 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01144:Gm14496
|
APN |
2 |
181,636,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01300:Gm14496
|
APN |
2 |
181,642,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01328:Gm14496
|
APN |
2 |
181,637,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01526:Gm14496
|
APN |
2 |
181,637,458 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01576:Gm14496
|
APN |
2 |
181,633,164 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01775:Gm14496
|
APN |
2 |
181,642,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02020:Gm14496
|
APN |
2 |
181,637,882 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02150:Gm14496
|
APN |
2 |
181,633,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02170:Gm14496
|
APN |
2 |
181,638,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02262:Gm14496
|
APN |
2 |
181,637,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Gm14496
|
APN |
2 |
181,637,963 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02414:Gm14496
|
APN |
2 |
181,633,198 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02541:Gm14496
|
APN |
2 |
181,642,186 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02741:Gm14496
|
APN |
2 |
181,633,136 (GRCm39) |
missense |
probably benign |
|
|
IGL02933:Gm14496
|
APN |
2 |
181,642,256 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03214:Gm14496
|
APN |
2 |
181,642,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4342:Gm14496
|
UTSW |
2 |
181,637,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0158:Gm14496
|
UTSW |
2 |
181,639,206 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0271:Gm14496
|
UTSW |
2 |
181,637,747 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0611:Gm14496
|
UTSW |
2 |
181,636,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0833:Gm14496
|
UTSW |
2 |
181,638,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0834:Gm14496
|
UTSW |
2 |
181,637,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0906:Gm14496
|
UTSW |
2 |
181,642,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1298:Gm14496
|
UTSW |
2 |
181,637,885 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1500:Gm14496
|
UTSW |
2 |
181,633,026 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1585:Gm14496
|
UTSW |
2 |
181,638,002 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1610:Gm14496
|
UTSW |
2 |
181,637,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1627:Gm14496
|
UTSW |
2 |
181,640,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Gm14496
|
UTSW |
2 |
181,642,837 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1663:Gm14496
|
UTSW |
2 |
181,639,230 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1792:Gm14496
|
UTSW |
2 |
181,637,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1888:Gm14496
|
UTSW |
2 |
181,641,989 (GRCm39) |
nonsense |
probably null |
|
|
R1888:Gm14496
|
UTSW |
2 |
181,641,989 (GRCm39) |
nonsense |
probably null |
|
|
R1922:Gm14496
|
UTSW |
2 |
181,642,797 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2081:Gm14496
|
UTSW |
2 |
181,642,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Gm14496
|
UTSW |
2 |
181,633,127 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2176:Gm14496
|
UTSW |
2 |
181,633,130 (GRCm39) |
missense |
probably benign |
|
|
R4154:Gm14496
|
UTSW |
2 |
181,636,872 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4789:Gm14496
|
UTSW |
2 |
181,637,577 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4873:Gm14496
|
UTSW |
2 |
181,639,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4875:Gm14496
|
UTSW |
2 |
181,639,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5020:Gm14496
|
UTSW |
2 |
181,633,152 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5354:Gm14496
|
UTSW |
2 |
181,642,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5361:Gm14496
|
UTSW |
2 |
181,642,147 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5457:Gm14496
|
UTSW |
2 |
181,639,401 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5589:Gm14496
|
UTSW |
2 |
181,637,674 (GRCm39) |
nonsense |
probably null |
|
|
R5655:Gm14496
|
UTSW |
2 |
181,637,975 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6007:Gm14496
|
UTSW |
2 |
181,639,323 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6123:Gm14496
|
UTSW |
2 |
181,633,020 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6159:Gm14496
|
UTSW |
2 |
181,638,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6168:Gm14496
|
UTSW |
2 |
181,642,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6454:Gm14496
|
UTSW |
2 |
181,638,015 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6502:Gm14496
|
UTSW |
2 |
181,642,386 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6649:Gm14496
|
UTSW |
2 |
181,639,269 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6996:Gm14496
|
UTSW |
2 |
181,637,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:Gm14496
|
UTSW |
2 |
181,642,120 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7317:Gm14496
|
UTSW |
2 |
181,637,613 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7354:Gm14496
|
UTSW |
2 |
181,642,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Gm14496
|
UTSW |
2 |
181,642,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7565:Gm14496
|
UTSW |
2 |
181,633,050 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7669:Gm14496
|
UTSW |
2 |
181,637,711 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7828:Gm14496
|
UTSW |
2 |
181,633,171 (GRCm39) |
nonsense |
probably null |
|
|
R7870:Gm14496
|
UTSW |
2 |
181,637,906 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8006:Gm14496
|
UTSW |
2 |
181,637,669 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8379:Gm14496
|
UTSW |
2 |
181,642,275 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9174:Gm14496
|
UTSW |
2 |
181,642,797 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9416:Gm14496
|
UTSW |
2 |
181,640,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9463:Gm14496
|
UTSW |
2 |
181,642,256 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9499:Gm14496
|
UTSW |
2 |
181,638,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9581:Gm14496
|
UTSW |
2 |
181,642,047 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0058:Gm14496
|
UTSW |
2 |
181,637,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACATCTTCAGCAAAGGTTGTTATC -3'
(R):5'- AATTGTAACCTTCTTCACTCAGAGC -3'
Sequencing Primer
(F):5'- GTGACATGAACTCTACTCTAGAAATC -3'
(R):5'- CTCAGAGCCATGTCATATTTGTGCAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation