Incidental Mutation 'R7505:Hnrnpk'
ID |
581752 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hnrnpk
|
Ensembl Gene |
ENSMUSG00000021546 |
Gene Name |
heterogeneous nuclear ribonucleoprotein K |
Synonyms |
Hnrpk, KBBP, hnRNPK |
MMRRC Submission |
045578-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.873)
|
Stock # |
R7505 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
58538956-58551157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58547783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 27
(M27T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042450]
[ENSMUST00000043269]
[ENSMUST00000116403]
[ENSMUST00000175847]
[ENSMUST00000176207]
[ENSMUST00000176305]
[ENSMUST00000176558]
[ENSMUST00000176849]
[ENSMUST00000177019]
[ENSMUST00000177060]
[ENSMUST00000177117]
[ENSMUST00000177497]
[ENSMUST00000223822]
[ENSMUST00000224030]
[ENSMUST00000224182]
[ENSMUST00000224342]
[ENSMUST00000224524]
[ENSMUST00000224836]
[ENSMUST00000225031]
[ENSMUST00000225176]
[ENSMUST00000225674]
[ENSMUST00000225815]
[ENSMUST00000225828]
|
AlphaFold |
P61979 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042450
|
SMART Domains |
Protein: ENSMUSP00000041035 Gene: ENSMUSG00000035367
Domain | Start | End | E-Value | Type |
DUF1767
|
11 |
104 |
1.62e-34 |
SMART |
low complexity region
|
243 |
259 |
N/A |
INTRINSIC |
low complexity region
|
271 |
285 |
N/A |
INTRINSIC |
Pfam:RMI1_C
|
479 |
614 |
4.2e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043269
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039269 Gene: ENSMUSG00000021546 AA Change: M27T
Domain | Start | End | E-Value | Type |
KH
|
41 |
109 |
4.56e-11 |
SMART |
KH
|
143 |
214 |
2.66e-12 |
SMART |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
285 |
301 |
N/A |
INTRINSIC |
low complexity region
|
307 |
315 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
KH
|
386 |
456 |
3.12e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116403
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112104 Gene: ENSMUSG00000021546 AA Change: M27T
Domain | Start | End | E-Value | Type |
KH
|
41 |
109 |
4.56e-11 |
SMART |
KH
|
143 |
214 |
2.66e-12 |
SMART |
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
low complexity region
|
285 |
301 |
N/A |
INTRINSIC |
low complexity region
|
307 |
315 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
low complexity region
|
365 |
381 |
N/A |
INTRINSIC |
KH
|
386 |
456 |
3.12e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175847
AA Change: M27T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000134837 Gene: ENSMUSG00000021546 AA Change: M27T
Domain | Start | End | E-Value | Type |
Pfam:ROKNT
|
1 |
43 |
7.6e-24 |
PFAM |
Pfam:KH_4
|
21 |
70 |
1.4e-9 |
PFAM |
Pfam:KH_2
|
25 |
74 |
4.4e-7 |
PFAM |
Pfam:KH_1
|
44 |
72 |
3.5e-8 |
PFAM |
Pfam:KH_3
|
54 |
73 |
9.6e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176207
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135354 Gene: ENSMUSG00000021546 AA Change: M27T
Domain | Start | End | E-Value | Type |
KH
|
41 |
109 |
4.56e-11 |
SMART |
KH
|
119 |
190 |
2.66e-12 |
SMART |
low complexity region
|
228 |
255 |
N/A |
INTRINSIC |
low complexity region
|
261 |
277 |
N/A |
INTRINSIC |
low complexity region
|
283 |
291 |
N/A |
INTRINSIC |
low complexity region
|
299 |
311 |
N/A |
INTRINSIC |
low complexity region
|
341 |
357 |
N/A |
INTRINSIC |
KH
|
362 |
432 |
3.12e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176305
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135305 Gene: ENSMUSG00000021546 AA Change: M27T
Domain | Start | End | E-Value | Type |
KH
|
41 |
109 |
4.56e-11 |
SMART |
KH
|
143 |
214 |
2.66e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176558
AA Change: M27T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135623 Gene: ENSMUSG00000021546 AA Change: M27T
Domain | Start | End | E-Value | Type |
KH
|
41 |
96 |
6.49e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176797
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176849
AA Change: M27T
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000135342 Gene: ENSMUSG00000021546 AA Change: M27T
Domain | Start | End | E-Value | Type |
KH
|
41 |
109 |
4.56e-11 |
SMART |
KH
|
119 |
190 |
2.66e-12 |
SMART |
low complexity region
|
228 |
255 |
N/A |
INTRINSIC |
low complexity region
|
261 |
277 |
N/A |
INTRINSIC |
low complexity region
|
283 |
291 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177019
AA Change: M27T
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000135647 Gene: ENSMUSG00000021546 AA Change: M27T
Domain | Start | End | E-Value | Type |
KH
|
41 |
109 |
4.56e-11 |
SMART |
KH
|
119 |
190 |
2.66e-12 |
SMART |
low complexity region
|
228 |
255 |
N/A |
INTRINSIC |
low complexity region
|
261 |
277 |
N/A |
INTRINSIC |
low complexity region
|
283 |
291 |
N/A |
INTRINSIC |
low complexity region
|
299 |
311 |
N/A |
INTRINSIC |
low complexity region
|
341 |
357 |
N/A |
INTRINSIC |
KH
|
362 |
432 |
3.12e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177060
AA Change: M24T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135407 Gene: ENSMUSG00000021546 AA Change: M24T
Domain | Start | End | E-Value | Type |
KH
|
38 |
106 |
4.56e-11 |
SMART |
KH
|
116 |
177 |
2.28e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177117
|
SMART Domains |
Protein: ENSMUSP00000135109 Gene: ENSMUSG00000021546
Domain | Start | End | E-Value | Type |
Blast:KH
|
3 |
40 |
2e-18 |
BLAST |
Pfam:KH_1
|
53 |
87 |
2.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177497
|
SMART Domains |
Protein: ENSMUSP00000135833 Gene: ENSMUSG00000021546
Domain | Start | End | E-Value | Type |
Blast:KH
|
3 |
40 |
8e-16 |
BLAST |
KH
|
74 |
145 |
2.66e-12 |
SMART |
low complexity region
|
183 |
210 |
N/A |
INTRINSIC |
low complexity region
|
216 |
232 |
N/A |
INTRINSIC |
low complexity region
|
238 |
246 |
N/A |
INTRINSIC |
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
KH
|
317 |
387 |
3.12e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223822
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224030
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224182
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224342
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224524
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224836
AA Change: M27T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225031
AA Change: M27T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225176
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225674
AA Change: M27T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225815
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225828
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex, and is a poly-cytosine binding protein (PCBP). It is found in multiple subcellular compartments including the nucleus, cytoplasm and mitochondria. This gene product is thought to interact with RNA, DNA, and protein, and is involved in multiple cellular processes, including transcription, chromatin remodeling, DNA damage response, signal transduction, mRNA splicing, export, and translation. Multiple transcript variants and protein isoforms exist, with some isoforms containing a unique C-terminus. There are four pseudogenes of this gene, found on chromosomes 2, 3, 7 and 13. [provided by RefSeq, Aug 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
T |
A |
15: 91,033,260 (GRCm39) |
N719Y |
possibly damaging |
Het |
Adamts2 |
T |
C |
11: 50,687,347 (GRCm39) |
I1058T |
probably benign |
Het |
Alb |
T |
A |
5: 90,617,368 (GRCm39) |
Y356N |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,225,924 (GRCm39) |
N971D |
probably damaging |
Het |
Atp6v1c2 |
A |
G |
12: 17,347,724 (GRCm39) |
|
probably null |
Het |
Atp6v1h |
A |
T |
1: 5,194,561 (GRCm39) |
I247L |
probably benign |
Het |
Cacna1s |
C |
T |
1: 136,013,187 (GRCm39) |
R593* |
probably null |
Het |
Cacna2d3 |
C |
T |
14: 28,767,501 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
A |
8: 123,575,231 (GRCm39) |
G2D |
probably benign |
Het |
Cebpe |
G |
T |
14: 54,948,113 (GRCm39) |
N243K |
probably damaging |
Het |
Celf2 |
A |
T |
2: 6,629,511 (GRCm39) |
M136K |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,352,127 (GRCm39) |
I778V |
probably benign |
Het |
Col22a1 |
A |
T |
15: 71,671,248 (GRCm39) |
C1592* |
probably null |
Het |
Cpne2 |
A |
T |
8: 95,275,094 (GRCm39) |
N34I |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,219,240 (GRCm39) |
N860S |
probably benign |
Het |
Disp2 |
T |
G |
2: 118,621,569 (GRCm39) |
L767R |
probably damaging |
Het |
Eif1ad19 |
A |
T |
12: 87,740,270 (GRCm39) |
N96K |
probably benign |
Het |
Evpl |
A |
G |
11: 116,117,813 (GRCm39) |
|
probably null |
Het |
F7 |
A |
T |
8: 13,078,745 (GRCm39) |
N59Y |
possibly damaging |
Het |
Fam98a |
A |
T |
17: 75,845,233 (GRCm39) |
H504Q |
unknown |
Het |
Fbxo4 |
G |
A |
15: 4,000,903 (GRCm39) |
R270C |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,789,099 (GRCm39) |
V555A |
probably damaging |
Het |
Fgf4 |
T |
C |
7: 144,415,498 (GRCm39) |
V86A |
possibly damaging |
Het |
Fpgt |
G |
T |
3: 154,792,413 (GRCm39) |
A538D |
possibly damaging |
Het |
Gars1 |
A |
G |
6: 55,029,162 (GRCm39) |
T181A |
probably benign |
Het |
Gask1a |
G |
C |
9: 121,805,483 (GRCm39) |
G425R |
probably benign |
Het |
Gbx2 |
A |
G |
1: 89,856,455 (GRCm39) |
S312P |
probably benign |
Het |
Gm29735 |
C |
T |
7: 141,710,327 (GRCm39) |
C175Y |
unknown |
Het |
Gm7995 |
A |
G |
14: 42,132,314 (GRCm39) |
T49A |
|
Het |
Idh3b |
A |
G |
2: 130,126,147 (GRCm39) |
S20P |
probably benign |
Het |
Idh3b |
G |
C |
2: 130,126,153 (GRCm39) |
R18G |
probably benign |
Het |
Ighg2b |
T |
A |
12: 113,268,600 (GRCm39) |
T354S |
|
Het |
Lrfn2 |
T |
A |
17: 49,403,479 (GRCm39) |
M534K |
probably benign |
Het |
Mcpt8 |
G |
A |
14: 56,320,548 (GRCm39) |
A127V |
probably benign |
Het |
Msi2 |
A |
T |
11: 88,304,743 (GRCm39) |
N176K |
possibly damaging |
Het |
Mtr |
G |
T |
13: 12,236,362 (GRCm39) |
D621E |
probably benign |
Het |
Nlrp5 |
T |
A |
7: 23,106,925 (GRCm39) |
I63N |
probably benign |
Het |
Nol6 |
T |
C |
4: 41,120,352 (GRCm39) |
D455G |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,098,757 (GRCm39) |
S637T |
probably benign |
Het |
Ntn4 |
G |
T |
10: 93,543,146 (GRCm39) |
G291W |
probably damaging |
Het |
Or13a28 |
C |
A |
7: 140,217,965 (GRCm39) |
T117K |
probably damaging |
Het |
Or4d10 |
T |
A |
19: 12,051,969 (GRCm39) |
E9V |
possibly damaging |
Het |
Otof |
T |
A |
5: 30,528,364 (GRCm39) |
T1865S |
probably benign |
Het |
Plec |
A |
T |
15: 76,065,394 (GRCm39) |
S1559T |
unknown |
Het |
Plekhm1 |
C |
T |
11: 103,270,855 (GRCm39) |
|
probably null |
Het |
Plin4 |
T |
A |
17: 56,416,357 (GRCm39) |
Q49L |
possibly damaging |
Het |
Polrmt |
A |
G |
10: 79,573,717 (GRCm39) |
F995L |
probably benign |
Het |
Polrmt |
A |
G |
10: 79,579,010 (GRCm39) |
|
probably null |
Het |
Pramel16 |
A |
G |
4: 143,676,273 (GRCm39) |
I277T |
possibly damaging |
Het |
Pramel28 |
C |
T |
4: 143,691,556 (GRCm39) |
C389Y |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,573,077 (GRCm39) |
T375A |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,542,774 (GRCm39) |
M3145K |
probably damaging |
Het |
S100a11 |
A |
G |
3: 93,433,339 (GRCm39) |
K61R |
probably benign |
Het |
Sar1a |
A |
G |
10: 61,527,073 (GRCm39) |
T164A |
probably benign |
Het |
Sec31b |
C |
T |
19: 44,532,146 (GRCm39) |
A25T |
probably damaging |
Het |
Smpd2 |
A |
G |
10: 41,363,350 (GRCm39) |
V371A |
probably benign |
Het |
Speer1g |
T |
A |
5: 11,181,135 (GRCm39) |
Y141N |
possibly damaging |
Het |
Spg11 |
A |
T |
2: 121,905,832 (GRCm39) |
L1271* |
probably null |
Het |
Svep1 |
T |
C |
4: 58,115,862 (GRCm39) |
T944A |
possibly damaging |
Het |
Taf6 |
A |
T |
5: 138,178,207 (GRCm39) |
C431* |
probably null |
Het |
Tdrd6 |
A |
G |
17: 43,938,570 (GRCm39) |
V826A |
not run |
Het |
Tent4a |
G |
T |
13: 69,655,047 (GRCm39) |
P476T |
probably damaging |
Het |
Tmem132a |
A |
G |
19: 10,836,037 (GRCm39) |
V831A |
probably damaging |
Het |
Tnfrsf8 |
T |
G |
4: 144,995,685 (GRCm39) |
D458A |
probably damaging |
Het |
Trpv5 |
A |
G |
6: 41,651,590 (GRCm39) |
I196T |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,608,898 (GRCm39) |
D17706V |
probably damaging |
Het |
Uimc1 |
T |
C |
13: 55,223,444 (GRCm39) |
Y276C |
probably damaging |
Het |
Usp24 |
T |
A |
4: 106,236,276 (GRCm39) |
I988K |
probably damaging |
Het |
Vmn2r74 |
T |
A |
7: 85,606,279 (GRCm39) |
R356* |
probably null |
Het |
Wdr37 |
A |
T |
13: 8,869,971 (GRCm39) |
H429Q |
probably damaging |
Het |
Wwc2 |
A |
T |
8: 48,333,185 (GRCm39) |
L277Q |
probably damaging |
Het |
Zscan12 |
T |
A |
13: 21,552,756 (GRCm39) |
N193K |
possibly damaging |
Het |
|
Other mutations in Hnrnpk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00234:Hnrnpk
|
APN |
13 |
58,543,111 (GRCm39) |
splice site |
probably benign |
|
IGL03181:Hnrnpk
|
APN |
13 |
58,542,130 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0136:Hnrnpk
|
UTSW |
13 |
58,542,991 (GRCm39) |
missense |
probably benign |
0.01 |
R1131:Hnrnpk
|
UTSW |
13 |
58,541,979 (GRCm39) |
splice site |
probably null |
|
R1690:Hnrnpk
|
UTSW |
13 |
58,548,168 (GRCm39) |
missense |
probably benign |
0.23 |
R1956:Hnrnpk
|
UTSW |
13 |
58,544,000 (GRCm39) |
critical splice donor site |
probably null |
|
R4525:Hnrnpk
|
UTSW |
13 |
58,541,696 (GRCm39) |
splice site |
probably benign |
|
R4663:Hnrnpk
|
UTSW |
13 |
58,542,331 (GRCm39) |
missense |
probably damaging |
0.98 |
R4754:Hnrnpk
|
UTSW |
13 |
58,546,950 (GRCm39) |
unclassified |
probably benign |
|
R5473:Hnrnpk
|
UTSW |
13 |
58,541,913 (GRCm39) |
missense |
probably damaging |
0.99 |
R5830:Hnrnpk
|
UTSW |
13 |
58,545,548 (GRCm39) |
nonsense |
probably null |
|
R5937:Hnrnpk
|
UTSW |
13 |
58,543,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R5997:Hnrnpk
|
UTSW |
13 |
58,546,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R6188:Hnrnpk
|
UTSW |
13 |
58,541,967 (GRCm39) |
missense |
probably benign |
0.11 |
R6461:Hnrnpk
|
UTSW |
13 |
58,541,008 (GRCm39) |
critical splice donor site |
probably null |
|
R9491:Hnrnpk
|
UTSW |
13 |
58,541,050 (GRCm39) |
missense |
probably benign |
0.18 |
R9499:Hnrnpk
|
UTSW |
13 |
58,544,058 (GRCm39) |
missense |
probably benign |
0.31 |
R9551:Hnrnpk
|
UTSW |
13 |
58,544,058 (GRCm39) |
missense |
probably benign |
0.31 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGGTCTCAAAACAAATGAACC -3'
(R):5'- GAAGTAACCTTTTCTTGCACAGG -3'
Sequencing Primer
(F):5'- ACCCTTTAAAAACCTTTTATTCAACG -3'
(R):5'- CTTGCACAGGTTAAAAAGCAGTAC -3'
|
Posted On |
2019-10-17 |