Incidental Mutation 'R9265:Gm28042'
| ID |
702469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm28042
|
| Ensembl Gene |
ENSMUSG00000033852 |
| Gene Name |
predicted gene, 28042 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.531)
|
| Stock # |
R9265 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119857974-119873514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119871705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 914
(F914S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126150]
[ENSMUST00000129685]
[ENSMUST00000156805]
[ENSMUST00000162393]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126150
AA Change: F691S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488
AA Change: F691S
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
19 |
119 |
1.79e-17 |
SMART |
|
PLAc
|
233 |
789 |
1.99e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129685
AA Change: F914S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: F914S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
308 |
1.65e-4 |
SMART |
|
C2
|
242 |
342 |
1.79e-17 |
SMART |
|
PLAc
|
456 |
1012 |
1.99e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156805
|
| SMART Domains |
Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
308 |
1.65e-4 |
SMART |
|
C2
|
242 |
342 |
1.79e-17 |
SMART |
|
PLAc
|
456 |
892 |
8.56e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162393
|
| SMART Domains |
Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
JmjC
|
128 |
242 |
4.42e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (46/47) |
| MGI Phenotype |
FUNCTION: This locus represents naturally-occurring readthrough transcription between the neighboring Jmjd7 (jumonji domain containing 7) and Pla2g4b (phospholipase A2, group IVB (cytosolic)) genes on chromosome 2. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Oct 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a2 |
T |
C |
11: 61,153,094 (GRCm39) |
K211E |
probably damaging |
Het |
| Apba2 |
G |
T |
7: 64,393,020 (GRCm39) |
A514S |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,389,182 (GRCm39) |
T615I |
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,766,359 (GRCm39) |
F1232Y |
probably benign |
Het |
| B4galt3 |
A |
G |
1: 171,101,617 (GRCm39) |
D197G |
probably damaging |
Het |
| Calcrl |
T |
G |
2: 84,200,400 (GRCm39) |
N127H |
possibly damaging |
Het |
| Camkv |
T |
G |
9: 107,825,262 (GRCm39) |
I421S |
possibly damaging |
Het |
| Cdc123 |
T |
C |
2: 5,808,765 (GRCm39) |
D237G |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,187,333 (GRCm39) |
T1143A |
probably benign |
Het |
| Col5a1 |
G |
A |
2: 27,854,123 (GRCm39) |
R569K |
unknown |
Het |
| Cpn1 |
T |
C |
19: 43,958,599 (GRCm39) |
I201V |
probably damaging |
Het |
| Cr1l |
T |
C |
1: 194,806,027 (GRCm39) |
D152G |
probably benign |
Het |
| Csf2rb |
A |
T |
15: 78,232,746 (GRCm39) |
E684D |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,294,163 (GRCm39) |
N1164I |
|
Het |
| Ddx42 |
A |
G |
11: 106,132,435 (GRCm39) |
N486S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,060,040 (GRCm39) |
I2848T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,674,505 (GRCm39) |
D424G |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,732,081 (GRCm39) |
H4275R |
probably benign |
Het |
| Epha6 |
G |
A |
16: 59,476,117 (GRCm39) |
T1083M |
probably damaging |
Het |
| Fzd1 |
A |
G |
5: 4,807,216 (GRCm39) |
I122T |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,146,547 (GRCm39) |
D64G |
probably benign |
Het |
| Hinfp |
A |
G |
9: 44,209,083 (GRCm39) |
V345A |
possibly damaging |
Het |
| Hoxd8 |
C |
T |
2: 74,536,115 (GRCm39) |
S75L |
probably benign |
Het |
| Igsf1 |
A |
G |
X: 48,884,191 (GRCm39) |
M2T |
possibly damaging |
Het |
| Krt42 |
C |
T |
11: 100,157,808 (GRCm39) |
E219K |
probably damaging |
Het |
| Mcm3 |
C |
A |
1: 20,879,905 (GRCm39) |
D531Y |
probably damaging |
Het |
| Msantd1 |
C |
T |
5: 35,080,861 (GRCm39) |
R264* |
probably null |
Het |
| Nadk2 |
A |
G |
15: 9,071,774 (GRCm39) |
T65A |
probably damaging |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,089,456 (GRCm39) |
D5172G |
probably null |
Het |
| Nlrp9a |
G |
T |
7: 26,258,038 (GRCm39) |
R552I |
possibly damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,636,236 (GRCm39) |
T446A |
probably benign |
Het |
| Or4x11 |
T |
C |
2: 89,867,842 (GRCm39) |
I193T |
probably benign |
Het |
| Or51g2 |
C |
T |
7: 102,623,112 (GRCm39) |
W29* |
probably null |
Het |
| Or52s6 |
C |
A |
7: 103,092,165 (GRCm39) |
R55L |
possibly damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,984 (GRCm39) |
C241* |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,553 (GRCm39) |
Q543R |
possibly damaging |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,102 (GRCm39) |
H274R |
possibly damaging |
Het |
| Pknox1 |
A |
G |
17: 31,809,672 (GRCm39) |
D92G |
probably damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,573,294 (GRCm39) |
P386L |
probably benign |
Het |
| Rlf |
G |
C |
4: 121,007,487 (GRCm39) |
P608A |
possibly damaging |
Het |
| Sardh |
A |
T |
2: 27,105,065 (GRCm39) |
I686N |
probably damaging |
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,168 (GRCm39) |
Y113C |
probably damaging |
Het |
| Syndig1 |
T |
C |
2: 149,845,160 (GRCm39) |
F228L |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,937,795 (GRCm39) |
C375* |
probably null |
Het |
| Zscan4c |
T |
A |
7: 10,740,824 (GRCm39) |
S114R |
probably benign |
Het |
|
| Other mutations in Gm28042 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Gm28042
|
APN |
2 |
119,860,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01148:Gm28042
|
APN |
2 |
119,869,519 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02005:Gm28042
|
APN |
2 |
119,865,115 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02237:Gm28042
|
APN |
2 |
119,870,380 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02539:Gm28042
|
APN |
2 |
119,865,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02747:Gm28042
|
APN |
2 |
119,861,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02825:Gm28042
|
APN |
2 |
119,862,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02998:Gm28042
|
APN |
2 |
119,870,635 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03057:Gm28042
|
APN |
2 |
119,862,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03084:Gm28042
|
APN |
2 |
119,870,986 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03160:Gm28042
|
APN |
2 |
119,866,309 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4520001:Gm28042
|
UTSW |
2 |
119,870,148 (GRCm39) |
nonsense |
probably null |
|
|
R0147:Gm28042
|
UTSW |
2 |
119,866,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0270:Gm28042
|
UTSW |
2 |
119,872,073 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0315:Gm28042
|
UTSW |
2 |
119,869,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1421:Gm28042
|
UTSW |
2 |
119,866,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1589:Gm28042
|
UTSW |
2 |
119,871,887 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1599:Gm28042
|
UTSW |
2 |
119,866,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1656:Gm28042
|
UTSW |
2 |
119,869,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Gm28042
|
UTSW |
2 |
119,866,872 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1969:Gm28042
|
UTSW |
2 |
119,872,096 (GRCm39) |
makesense |
probably null |
|
|
R2164:Gm28042
|
UTSW |
2 |
119,867,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2275:Gm28042
|
UTSW |
2 |
119,867,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3976:Gm28042
|
UTSW |
2 |
119,867,237 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4483:Gm28042
|
UTSW |
2 |
119,866,321 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4614:Gm28042
|
UTSW |
2 |
119,871,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4802:Gm28042
|
UTSW |
2 |
119,872,535 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4976:Gm28042
|
UTSW |
2 |
119,865,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Gm28042
|
UTSW |
2 |
119,865,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Gm28042
|
UTSW |
2 |
119,872,082 (GRCm39) |
splice site |
probably null |
|
|
R5340:Gm28042
|
UTSW |
2 |
119,871,929 (GRCm39) |
missense |
probably benign |
|
|
R5861:Gm28042
|
UTSW |
2 |
119,865,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6641:Gm28042
|
UTSW |
2 |
119,870,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Gm28042
|
UTSW |
2 |
119,870,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Gm28042
|
UTSW |
2 |
119,870,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7699:Gm28042
|
UTSW |
2 |
119,870,197 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7700:Gm28042
|
UTSW |
2 |
119,870,197 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8432:Gm28042
|
UTSW |
2 |
119,869,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9120:Gm28042
|
UTSW |
2 |
119,869,462 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9803:Gm28042
|
UTSW |
2 |
119,868,984 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0019:Gm28042
|
UTSW |
2 |
119,870,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGGCCTTGTGTAGTCAG -3'
(R):5'- TCTTCCTGGCTGTAGGTCAC -3'
Sequencing Primer
(F):5'- GTAGTCAGCCTTATGTTGAGCACAC -3'
(R):5'- GAGTCAGAAGAAGACAGATTCACCTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation