Incidental Mutation 'R8787:Srsf11'
| ID |
670691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srsf11
|
| Ensembl Gene |
ENSMUSG00000055436 |
| Gene Name |
serine and arginine-rich splicing factor 11 |
| Synonyms |
Sfrs11, 2610019N13Rik, 0610009J05Rik |
| MMRRC Submission |
068633-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
157716552-157742311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 157718037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 382
(D382E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040787]
[ENSMUST00000069025]
[ENSMUST00000072875]
[ENSMUST00000121326]
[ENSMUST00000198705]
[ENSMUST00000199727]
|
| AlphaFold |
E9Q6E5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040787
|
| SMART Domains |
Protein: ENSMUSP00000038662
Gene: ENSMUSG00000039988
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
Blast:ANK
|
108 |
139 |
8e-10 |
BLAST |
|
ANK
|
143 |
172 |
2.66e-5 |
SMART |
|
ANK
|
176 |
205 |
1.97e1 |
SMART |
|
Pfam:GPCR_chapero_1
|
259 |
533 |
2.2e-81 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000069025
AA Change: D406E
|
| SMART Domains |
Protein: ENSMUSP00000063916
Gene: ENSMUSG00000055436
AA Change: D406E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000072875
AA Change: D382E
|
| SMART Domains |
Protein: ENSMUSP00000072651
Gene: ENSMUSG00000055436
AA Change: D382E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
|
RRM
|
27 |
101 |
3.13e-7 |
SMART |
|
low complexity region
|
117 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
474 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000121326
AA Change: D417E
|
| SMART Domains |
Protein: ENSMUSP00000113685
Gene: ENSMUSG00000055436
AA Change: D417E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
RRM
|
62 |
136 |
3.13e-7 |
SMART |
|
low complexity region
|
152 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
509 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000198705
AA Change: D159E
|
| SMART Domains |
Protein: ENSMUSP00000142759
Gene: ENSMUSG00000055436
AA Change: D159E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199727
|
| SMART Domains |
Protein: ENSMUSP00000143432
Gene: ENSMUSG00000039988
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
Blast:ANK
|
108 |
139 |
2e-9 |
BLAST |
|
ANK
|
143 |
172 |
1.7e-7 |
SMART |
|
ANK
|
176 |
205 |
1.3e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,225,053 (GRCm39) |
H511Y |
possibly damaging |
Het |
| Acp5 |
G |
A |
9: 22,038,489 (GRCm39) |
R271* |
probably null |
Het |
| Adamts20 |
A |
T |
15: 94,184,294 (GRCm39) |
V1503E |
possibly damaging |
Het |
| Adra2b |
A |
T |
2: 127,206,417 (GRCm39) |
E311D |
probably benign |
Het |
| Aldh18a1 |
T |
C |
19: 40,546,230 (GRCm39) |
I556V |
possibly damaging |
Het |
| Alox12 |
C |
A |
11: 70,144,146 (GRCm39) |
A116S |
probably benign |
Het |
| Alox5 |
G |
T |
6: 116,390,102 (GRCm39) |
A552E |
probably damaging |
Het |
| Angpt1 |
G |
T |
15: 42,375,780 (GRCm39) |
L159I |
probably damaging |
Het |
| Atp2b4 |
CTT |
CTTTTT |
1: 133,629,485 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,462,305 (GRCm39) |
L726I |
probably damaging |
Het |
| Ccdc78 |
A |
T |
17: 26,006,807 (GRCm39) |
T165S |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,824,791 (GRCm39) |
D1323G |
probably damaging |
Het |
| Chek1 |
A |
T |
9: 36,625,033 (GRCm39) |
C349* |
probably null |
Het |
| Clec1a |
A |
T |
6: 129,428,617 (GRCm39) |
L21Q |
possibly damaging |
Het |
| Col1a1 |
T |
C |
11: 94,833,634 (GRCm39) |
V445A |
possibly damaging |
Het |
| Efcab7 |
A |
G |
4: 99,757,791 (GRCm39) |
T313A |
probably null |
Het |
| Fads1 |
T |
A |
19: 10,170,325 (GRCm39) |
Y288* |
probably null |
Het |
| Fgb |
T |
A |
3: 82,953,969 (GRCm39) |
T90S |
probably benign |
Het |
| Glg1 |
C |
A |
8: 111,888,114 (GRCm39) |
V1026L |
probably damaging |
Het |
| Hadh |
T |
A |
3: 131,027,825 (GRCm39) |
Y313F |
probably damaging |
Het |
| Htr4 |
A |
G |
18: 62,570,853 (GRCm39) |
I303V |
possibly damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,552,757 (GRCm39) |
D487G |
possibly damaging |
Het |
| L1td1 |
G |
A |
4: 98,625,814 (GRCm39) |
V604I |
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,825,565 (GRCm39) |
T462A |
probably damaging |
Het |
| Lefty1 |
C |
A |
1: 180,764,118 (GRCm39) |
A86E |
probably damaging |
Het |
| Lmx1b |
T |
C |
2: 33,529,522 (GRCm39) |
Y79C |
|
Het |
| Lrp2 |
A |
G |
2: 69,382,745 (GRCm39) |
C47R |
probably damaging |
Het |
| Mrc2 |
A |
T |
11: 105,238,465 (GRCm39) |
N1204I |
probably benign |
Het |
| Ncf1 |
A |
C |
5: 134,254,145 (GRCm39) |
Y209* |
probably null |
Het |
| Or14j7 |
T |
A |
17: 38,235,075 (GRCm39) |
M206K |
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,453 (GRCm39) |
M258K |
possibly damaging |
Het |
| Or8k33 |
G |
A |
2: 86,384,297 (GRCm39) |
T57M |
probably damaging |
Het |
| Oxtr |
T |
G |
6: 112,466,871 (GRCm39) |
|
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,224,942 (GRCm39) |
V585A |
probably damaging |
Het |
| Pdcd11 |
T |
G |
19: 47,097,019 (GRCm39) |
L755R |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,358,461 (GRCm39) |
V2705A |
probably damaging |
Het |
| Plch2 |
C |
A |
4: 155,070,875 (GRCm39) |
G1168V |
probably benign |
Het |
| Prpf39 |
T |
C |
12: 65,089,555 (GRCm39) |
Y98H |
possibly damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rassf10 |
T |
A |
7: 112,554,738 (GRCm39) |
D446E |
probably benign |
Het |
| Rgs13 |
T |
C |
1: 144,016,482 (GRCm39) |
Y87C |
probably damaging |
Het |
| Serpinb9h |
G |
A |
13: 33,588,204 (GRCm39) |
R263H |
probably benign |
Het |
| Smpd3 |
G |
A |
8: 106,982,377 (GRCm39) |
R576C |
probably damaging |
Het |
| Spata31e1 |
T |
C |
13: 49,938,704 (GRCm39) |
Y1002C |
probably damaging |
Het |
| Stpg1 |
T |
A |
4: 135,261,108 (GRCm39) |
M306K |
probably benign |
Het |
| Svil |
C |
T |
18: 5,059,332 (GRCm39) |
Q696* |
probably null |
Het |
| Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
| Synj2 |
T |
C |
17: 6,036,514 (GRCm39) |
F161S |
possibly damaging |
Het |
| Tek |
T |
C |
4: 94,738,037 (GRCm39) |
Y696H |
probably damaging |
Het |
| Tgfbr1 |
A |
T |
4: 47,405,555 (GRCm39) |
D386V |
possibly damaging |
Het |
| Tgm4 |
G |
T |
9: 122,890,910 (GRCm39) |
G503V |
probably damaging |
Het |
| Tnni3k |
T |
C |
3: 154,645,691 (GRCm39) |
E461G |
probably damaging |
Het |
| Tom1l1 |
A |
T |
11: 90,561,931 (GRCm39) |
H232Q |
probably benign |
Het |
| Ubqln5 |
T |
C |
7: 103,778,329 (GRCm39) |
N165S |
probably benign |
Het |
| Vmn1r24 |
G |
A |
6: 57,932,958 (GRCm39) |
L187F |
probably benign |
Het |
| Vmn2r82 |
C |
T |
10: 79,213,894 (GRCm39) |
T160I |
probably damaging |
Het |
| Vmn2r96 |
G |
T |
17: 18,818,250 (GRCm39) |
G801V |
probably damaging |
Het |
| Vps39 |
A |
G |
2: 120,172,506 (GRCm39) |
S176P |
probably damaging |
Het |
| Vsig10 |
C |
A |
5: 117,472,981 (GRCm39) |
H191Q |
probably benign |
Het |
| Wtap |
G |
A |
17: 13,186,488 (GRCm39) |
S353L |
possibly damaging |
Het |
| Zmym4 |
T |
G |
4: 126,816,953 (GRCm39) |
R248S |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,829,011 (GRCm39) |
S518G |
probably benign |
Het |
| Zscan29 |
A |
T |
2: 120,996,876 (GRCm39) |
Y282N |
probably damaging |
Het |
|
| Other mutations in Srsf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01598:Srsf11
|
APN |
3 |
157,717,672 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01600:Srsf11
|
APN |
3 |
157,725,079 (GRCm39) |
splice site |
probably benign |
|
|
IGL02724:Srsf11
|
APN |
3 |
157,722,068 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03147:Srsf11
|
UTSW |
3 |
157,732,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Srsf11
|
UTSW |
3 |
157,742,172 (GRCm39) |
unclassified |
probably benign |
|
|
R0578:Srsf11
|
UTSW |
3 |
157,717,704 (GRCm39) |
unclassified |
probably benign |
|
|
R0580:Srsf11
|
UTSW |
3 |
157,717,704 (GRCm39) |
unclassified |
probably benign |
|
|
R1075:Srsf11
|
UTSW |
3 |
157,718,427 (GRCm39) |
intron |
probably benign |
|
|
R1604:Srsf11
|
UTSW |
3 |
157,724,948 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1797:Srsf11
|
UTSW |
3 |
157,725,065 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1815:Srsf11
|
UTSW |
3 |
157,722,064 (GRCm39) |
unclassified |
probably benign |
|
|
R1899:Srsf11
|
UTSW |
3 |
157,737,217 (GRCm39) |
unclassified |
probably benign |
|
|
R2105:Srsf11
|
UTSW |
3 |
157,724,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4605:Srsf11
|
UTSW |
3 |
157,728,560 (GRCm39) |
nonsense |
probably null |
|
|
R4655:Srsf11
|
UTSW |
3 |
157,728,972 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4737:Srsf11
|
UTSW |
3 |
157,732,369 (GRCm39) |
nonsense |
probably null |
|
|
R5244:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R5245:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R5379:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R5401:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R5625:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R5763:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R5814:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R5938:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R5944:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R5945:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R6126:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R6175:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R6427:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R6435:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R6436:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R6614:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R6616:Srsf11
|
UTSW |
3 |
157,728,981 (GRCm39) |
unclassified |
probably benign |
|
|
R7615:Srsf11
|
UTSW |
3 |
157,722,062 (GRCm39) |
missense |
unknown |
|
|
R9352:Srsf11
|
UTSW |
3 |
157,717,836 (GRCm39) |
missense |
unknown |
|
|
R9547:Srsf11
|
UTSW |
3 |
157,717,735 (GRCm39) |
missense |
unknown |
|
|
X0017:Srsf11
|
UTSW |
3 |
157,721,986 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCTGCTTTGACAAGGAG -3'
(R):5'- GCACTTTAGGGCTCTATCCAGC -3'
Sequencing Primer
(F):5'- TGGGAAAATAAGCTTCTTCAAAGG -3'
(R):5'- AGGGCTCTATCCAGCTTAAATTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation