Incidental Mutation 'R5854:Hnrnpab'
| ID |
454829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpab
|
| Ensembl Gene |
ENSMUSG00000020358 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein A/B |
| Synonyms |
CBF-A, Hnrpab, Cgbfa |
| MMRRC Submission |
043228-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.833)
|
| Stock # |
R5854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
51490927-51497674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51495508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 177
(E177G)
|
| 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 damaging
Transcript: ENSMUST00000074669
AA Change: E177G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074238
Gene: ENSMUSG00000020358
AA Change: E177G
| 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 |
possibly damaging
Transcript: ENSMUST00000101249
AA Change: E177G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098807
Gene: ENSMUSG00000020358
AA Change: E177G
| 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 |
possibly damaging
Transcript: ENSMUST00000109103
AA Change: E177G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104731
Gene: ENSMUSG00000020358
AA Change: E177G
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Atg4c |
G |
A |
4: 99,116,796 (GRCm39) |
V313I |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,354,594 (GRCm39) |
E1111G |
possibly damaging |
Het |
| Chuk |
T |
C |
19: 44,070,396 (GRCm39) |
H573R |
probably benign |
Het |
| Cst13 |
A |
G |
2: 148,670,094 (GRCm39) |
N88S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,447,276 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,351,477 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,452,076 (GRCm39) |
L810P |
probably damaging |
Het |
| Fcrlb |
T |
C |
1: 170,735,530 (GRCm39) |
Y248C |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,241 (GRCm39) |
|
silent |
Het |
| Gtf3c3 |
C |
A |
1: 54,458,596 (GRCm39) |
A442S |
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,887,143 (GRCm39) |
S799G |
probably damaging |
Het |
| Hnrnpa2b1 |
C |
G |
6: 51,443,589 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,900,884 (GRCm39) |
I862V |
probably benign |
Het |
| Lonp2 |
T |
A |
8: 87,399,699 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
G |
T |
1: 127,758,092 (GRCm39) |
P363T |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,179,178 (GRCm39) |
Y91H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,158,478 (GRCm39) |
D810G |
probably benign |
Het |
| Nans |
A |
G |
4: 46,500,180 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,186,548 (GRCm39) |
D1E |
probably benign |
Het |
| Nelfb |
T |
C |
2: 25,100,005 (GRCm39) |
N204S |
probably damaging |
Het |
| Noxo1 |
T |
C |
17: 24,917,516 (GRCm39) |
S31P |
probably damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,491 (GRCm39) |
M200V |
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,382 (GRCm39) |
M134K |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,517,959 (GRCm39) |
L66S |
probably damaging |
Het |
| Pkd1l2 |
T |
G |
8: 117,792,485 (GRCm39) |
T436P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,445,186 (GRCm39) |
D3686G |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,974 (GRCm39) |
L285S |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,483,832 (GRCm39) |
V522D |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,321,313 (GRCm39) |
D375G |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,448,996 (GRCm39) |
L3681F |
probably damaging |
Het |
| Sft2d1 |
C |
T |
17: 8,539,485 (GRCm39) |
T96I |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,942,059 (GRCm39) |
N312D |
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,051,509 (GRCm39) |
K82* |
probably null |
Het |
| Stk32c |
A |
G |
7: 138,768,195 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,646 (GRCm39) |
N263Y |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,233 (GRCm39) |
N190S |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
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 |
|
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 |
|
V7581:Hnrnpab
|
UTSW |
11 |
51,493,451 (GRCm39) |
missense |
probably benign |
0.39 |
|
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'- GATCTATTGGAAGCTCAATGGCC -3'
(R):5'- AACTCCGTCTGGCTTAGCTC -3'
Sequencing Primer
(F):5'- TTGGAAGCTCAATGGCCTCAATC -3'
(R):5'- CTCCAGAGAGAATTGAGCCCATTTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation