Incidental Mutation 'R3619:Hnrnpab'
| ID |
268569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpab
|
| Ensembl Gene |
ENSMUSG00000020358 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein A/B |
| Synonyms |
CBF-A, Hnrpab, Cgbfa |
| MMRRC Submission |
040676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.833)
|
| Stock # |
R3619 (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 51493438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 257
(N257D)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000074669
AA Change: N257D
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074238
Gene: ENSMUSG00000020358
AA Change: N257D
| 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: N257D
|
| SMART Domains |
Protein: ENSMUSP00000098807
Gene: ENSMUSG00000020358
AA Change: N257D
| 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: N257D
|
| SMART Domains |
Protein: ENSMUSP00000104731
Gene: ENSMUSG00000020358
AA Change: N257D
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc82 |
T |
A |
9: 13,251,931 (GRCm39) |
D74E |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,554,809 (GRCm39) |
I168N |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,194 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,926,118 (GRCm39) |
S673P |
possibly damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,234 (GRCm39) |
S118G |
probably benign |
Het |
| Foxi3 |
T |
C |
6: 70,934,047 (GRCm39) |
L178P |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,731,111 (GRCm39) |
P235Q |
probably benign |
Het |
| Gm8267 |
A |
T |
14: 44,961,513 (GRCm39) |
M60K |
possibly damaging |
Het |
| Gnmt |
G |
A |
17: 47,039,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Klhl31 |
G |
T |
9: 77,562,758 (GRCm39) |
A508S |
probably benign |
Het |
| Lrif1 |
A |
G |
3: 106,639,862 (GRCm39) |
K316E |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,961,721 (GRCm39) |
F436I |
probably damaging |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Micu1 |
T |
C |
10: 59,604,080 (GRCm39) |
|
probably null |
Het |
| Mpst |
A |
G |
15: 78,294,322 (GRCm39) |
E18G |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,139,091 (GRCm39) |
F160L |
possibly damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,531 (GRCm39) |
F206I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,057 (GRCm39) |
I145F |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,026,623 (GRCm39) |
|
probably null |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,479,227 (GRCm39) |
V708A |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,435 (GRCm39) |
A65S |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,408,077 (GRCm39) |
Y945C |
probably damaging |
Het |
| Pym1 |
T |
G |
10: 128,601,073 (GRCm39) |
V31G |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,945,410 (GRCm39) |
V604I |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,058,123 (GRCm39) |
|
probably null |
Het |
| Wfdc6b |
A |
T |
2: 164,456,826 (GRCm39) |
Y46F |
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
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 |
|
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 |
|
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'- TGAGCCATAGCAGCACAAGC -3'
(R):5'- AAGGTGGGTGTCAATCTTGC -3'
Sequencing Primer
(F):5'- GCCATAGCAGCACAAGCATACAG -3'
(R):5'- GTAGGATGAGTATCTTCTGTGAAAAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation