Incidental Mutation 'V7581:Hnrnpab'
| ID |
152563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpab
|
| Ensembl Gene |
ENSMUSG00000020358 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein A/B |
| Synonyms |
CBF-A, Hnrpab, Cgbfa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.833)
|
| Stock # |
V7581 ()
of strain
stinger
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
51490927-51497674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51493451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 252
(N252K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020625]
[ENSMUST00000074669]
[ENSMUST00000101249]
[ENSMUST00000101250]
[ENSMUST00000109103]
[ENSMUST00000167797]
|
| AlphaFold |
Q99020 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020625
|
| SMART Domains |
Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_3
|
27 |
433 |
2.1e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074669
AA Change: N252K
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074238
Gene: ENSMUSG00000020358
AA Change: N252K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
55 |
N/A |
INTRINSIC |
|
RRM
|
76 |
148 |
3.59e-25 |
SMART |
|
RRM
|
160 |
232 |
5.79e-20 |
SMART |
|
low complexity region
|
240 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000101249
AA Change: N252K
|
| SMART Domains |
Protein: ENSMUSP00000098807
Gene: ENSMUSG00000020358
AA Change: N252K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
55 |
N/A |
INTRINSIC |
|
RRM
|
76 |
148 |
3.59e-25 |
SMART |
|
RRM
|
160 |
232 |
5.79e-20 |
SMART |
|
low complexity region
|
240 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101250
|
| SMART Domains |
Protein: ENSMUSP00000098808
Gene: ENSMUSG00000020359
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_3
|
33 |
212 |
8.2e-29 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000109103
AA Change: N252K
|
| SMART Domains |
Protein: ENSMUSP00000104731
Gene: ENSMUSG00000020358
AA Change: N252K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBFNT
|
1 |
75 |
5.7e-23 |
PFAM |
|
RRM
|
76 |
148 |
3.59e-25 |
SMART |
|
RRM
|
160 |
232 |
5.79e-20 |
SMART |
|
low complexity region
|
240 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167797
|
| SMART Domains |
Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_3
|
33 |
373 |
1.5e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169995
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein with consensus RNA binding domains present in a number of other RNA binding proteins and a glycine-rich C-terminus. This gene overlaps in a tail-to-tail orientation the gene encoding alanine-glyoxylate aminotransferase 2-like 2. Some of the exons of this gene are interspersed with exons of alanine-glyoxylate aminotransferase 2-like 2. Two alternatively spliced transcript variants that encode distinct proteins have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuron differentiation, increased susceptibility to neuronal excitotoxicity and long neurites. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
| Abcb10 |
GGCCATCG |
GG |
8: 124,696,500 (GRCm39) |
|
probably benign |
Het |
| Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
| Clasp1 |
G |
A |
1: 118,509,078 (GRCm39) |
R1027Q |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,495,050 (GRCm39) |
N1369K |
possibly damaging |
Het |
| Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 118,690,775 (GRCm39) |
Q295* |
probably null |
Het |
| Dync2i1 |
A |
C |
12: 116,175,460 (GRCm39) |
S906A |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,592 (GRCm39) |
*405W |
probably null |
Het |
| Glrx3 |
A |
G |
7: 137,060,882 (GRCm39) |
H172R |
probably benign |
Het |
| Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
| Gm4787 |
G |
A |
12: 81,424,341 (GRCm39) |
Q606* |
probably null |
Het |
| Hira |
G |
A |
16: 18,713,571 (GRCm39) |
A29T |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
| Klc1 |
A |
T |
12: 111,741,006 (GRCm39) |
I161F |
probably benign |
Het |
| Lpar5 |
C |
A |
6: 125,058,690 (GRCm39) |
A137E |
possibly damaging |
Het |
| Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
| Muc6 |
T |
G |
7: 141,233,880 (GRCm39) |
E808A |
probably benign |
Het |
| Or10j7 |
G |
T |
1: 173,011,531 (GRCm39) |
L157I |
probably benign |
Het |
| Or5p57 |
G |
T |
7: 107,665,885 (GRCm39) |
T40K |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
| Papln |
C |
T |
12: 83,825,608 (GRCm39) |
R608C |
possibly damaging |
Het |
| Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
| Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,356,745 (GRCm39) |
Y257H |
probably damaging |
Het |
| Prkcb |
G |
T |
7: 122,127,699 (GRCm39) |
W274C |
probably damaging |
Het |
| Rbbp8nl |
T |
A |
2: 179,920,001 (GRCm39) |
T558S |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,590,369 (GRCm39) |
D705G |
possibly damaging |
Het |
| Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
| Slc5a6 |
C |
T |
5: 31,199,957 (GRCm39) |
|
probably null |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
| Spata31 |
C |
A |
13: 65,069,462 (GRCm39) |
P537T |
probably benign |
Het |
| Tmc3 |
T |
C |
7: 83,271,713 (GRCm39) |
V955A |
probably benign |
Het |
| Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
| Toe1 |
A |
T |
4: 116,663,308 (GRCm39) |
N56K |
probably damaging |
Het |
| Tprkb |
A |
G |
6: 85,905,764 (GRCm39) |
K150E |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,973 (GRCm39) |
K150E |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,066,980 (GRCm39) |
V86A |
probably benign |
Het |
| Vmn2r68 |
C |
T |
7: 84,871,088 (GRCm39) |
V732I |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
| Zfp933 |
G |
A |
4: 147,910,927 (GRCm39) |
A223V |
probably damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,654,314 (GRCm39) |
R724* |
probably null |
Het |
|
| Other mutations in Hnrnpab |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02040:Hnrnpab
|
APN |
11 |
51,492,622 (GRCm39) |
intron |
probably benign |
|
|
IGL02806:Hnrnpab
|
APN |
11 |
51,496,305 (GRCm39) |
missense |
probably benign |
0.03 |
|
F5770:Hnrnpab
|
UTSW |
11 |
51,493,451 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0172:Hnrnpab
|
UTSW |
11 |
51,493,494 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3619:Hnrnpab
|
UTSW |
11 |
51,493,438 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3747:Hnrnpab
|
UTSW |
11 |
51,493,473 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5489:Hnrnpab
|
UTSW |
11 |
51,495,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5854:Hnrnpab
|
UTSW |
11 |
51,495,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Hnrnpab
|
UTSW |
11 |
51,492,281 (GRCm39) |
missense |
probably benign |
|
|
R6901:Hnrnpab
|
UTSW |
11 |
51,492,675 (GRCm39) |
intron |
probably benign |
|
|
R7652:Hnrnpab
|
UTSW |
11 |
51,496,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7766:Hnrnpab
|
UTSW |
11 |
51,492,293 (GRCm39) |
missense |
unknown |
|
|
R9171:Hnrnpab
|
UTSW |
11 |
51,492,710 (GRCm39) |
missense |
unknown |
|
|
R9245:Hnrnpab
|
UTSW |
11 |
51,497,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
V7583:Hnrnpab
|
UTSW |
11 |
51,493,451 (GRCm39) |
missense |
probably benign |
0.39 |
|
X0025:Hnrnpab
|
UTSW |
11 |
51,495,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Hnrnpab
|
UTSW |
11 |
51,492,628 (GRCm39) |
intron |
probably benign |
|
|
Z1088:Hnrnpab
|
UTSW |
11 |
51,492,573 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGCCATGAGCCATAGCAGC -3'
(R):5'- ATCCAGTGAAGCCTCACACACTTG -3'
Sequencing Primer
(F):5'- TGAGCCATAGCAGCACAAG -3'
(R):5'- GAAGCCTCACACACTTGTTTTATCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation