Incidental Mutation 'R4625:Smarca5'
| ID |
346492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smarca5
|
| Ensembl Gene |
ENSMUSG00000031715 |
| Gene Name |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 |
| Synonyms |
D030040M08Rik, D330027N15Rik, 4933427E24Rik, MommeD4, Snf2h |
| MMRRC Submission |
041890-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4625 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
80698507-80739497 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80710563 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 721
(K721N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043359]
|
| AlphaFold |
Q91ZW3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043359
AA Change: K721N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: K721N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
53 |
N/A |
INTRINSIC |
|
Pfam:DBINO
|
65 |
112 |
1.1e-4 |
PFAM |
|
low complexity region
|
145 |
156 |
N/A |
INTRINSIC |
|
DEXDc
|
175 |
367 |
3.9e-46 |
SMART |
|
Blast:DEXDc
|
386 |
421 |
6e-11 |
BLAST |
|
HELICc
|
512 |
596 |
6.2e-28 |
SMART |
|
low complexity region
|
756 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
837 |
N/A |
INTRINSIC |
|
SANT
|
840 |
889 |
2.3e-7 |
SMART |
|
SANT
|
942 |
1006 |
3e-7 |
SMART |
|
low complexity region
|
1008 |
1024 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150277
|
| Meta Mutation Damage Score |
0.1150 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (75/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during early embryonic development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
C |
5: 145,044,883 (GRCm38) |
E176A |
possibly damaging |
Het |
| 2010111I01Rik |
T |
C |
13: 63,068,092 (GRCm38) |
S393P |
probably benign |
Het |
| 4933417A18Rik |
G |
A |
13: 34,932,465 (GRCm38) |
G66S |
probably damaging |
Het |
| 5830473C10Rik |
G |
T |
5: 90,571,752 (GRCm38) |
V236L |
probably damaging |
Het |
| Abcc2 |
A |
G |
19: 43,803,739 (GRCm38) |
I320V |
probably benign |
Het |
| Abtb1 |
C |
T |
6: 88,836,287 (GRCm38) |
A466T |
probably benign |
Het |
| Ak6 |
C |
A |
13: 100,655,673 (GRCm38) |
T208K |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,124,226 (GRCm38) |
E148K |
probably damaging |
Het |
| Anapc15 |
T |
A |
7: 101,901,032 (GRCm38) |
|
probably benign |
Het |
| Aspn |
A |
G |
13: 49,557,425 (GRCm38) |
D182G |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,580,294 (GRCm38) |
D607V |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,379,751 (GRCm38) |
I114V |
probably null |
Het |
| Ccdc159 |
A |
G |
9: 21,929,466 (GRCm38) |
S110G |
probably benign |
Het |
| Ccdc94 |
T |
A |
17: 55,964,598 (GRCm38) |
L173Q |
probably damaging |
Het |
| Cdh18 |
A |
C |
15: 22,714,042 (GRCm38) |
|
probably benign |
Het |
| Cdh22 |
A |
G |
2: 165,112,606 (GRCm38) |
I665T |
probably damaging |
Het |
| Cenpk |
T |
A |
13: 104,249,393 (GRCm38) |
H265Q |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,969,492 (GRCm38) |
L1397P |
probably damaging |
Het |
| Chia1 |
A |
C |
3: 106,128,940 (GRCm38) |
N279H |
probably benign |
Het |
| Cyp8b1 |
T |
C |
9: 121,915,585 (GRCm38) |
E227G |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,404,120 (GRCm38) |
N1772K |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,463,661 (GRCm38) |
S2244P |
probably damaging |
Het |
| Fshr |
T |
C |
17: 88,985,720 (GRCm38) |
Y510C |
probably damaging |
Het |
| Gm21188 |
G |
T |
13: 120,035,229 (GRCm38) |
R35S |
possibly damaging |
Het |
| Gm5087 |
T |
C |
14: 13,158,798 (GRCm38) |
|
noncoding transcript |
Het |
| Gm7135 |
A |
C |
1: 97,459,626 (GRCm38) |
|
noncoding transcript |
Het |
| Hnrnpll |
A |
T |
17: 80,050,862 (GRCm38) |
Y153* |
probably null |
Het |
| Htt |
T |
A |
5: 34,829,785 (GRCm38) |
V1116E |
probably damaging |
Het |
| Ikzf5 |
A |
T |
7: 131,393,753 (GRCm38) |
|
probably null |
Het |
| Kcnb1 |
A |
G |
2: 167,188,233 (GRCm38) |
S131P |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,658,766 (GRCm38) |
A421V |
probably damaging |
Het |
| Kctd21 |
A |
G |
7: 97,347,575 (GRCm38) |
D85G |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,609,631 (GRCm38) |
N284S |
probably benign |
Het |
| Kif1a |
A |
T |
1: 93,042,659 (GRCm38) |
D952E |
probably benign |
Het |
| Klf4 |
A |
G |
4: 55,530,370 (GRCm38) |
V247A |
probably benign |
Het |
| Krt1 |
C |
T |
15: 101,846,187 (GRCm38) |
G543S |
unknown |
Het |
| Lamc1 |
A |
G |
1: 153,242,696 (GRCm38) |
S910P |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,689,280 (GRCm38) |
N512K |
probably damaging |
Het |
| Mettl7a1 |
A |
T |
15: 100,313,058 (GRCm38) |
Q170L |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,254,965 (GRCm38) |
N1205I |
possibly damaging |
Het |
| Mrps30 |
A |
G |
13: 118,386,714 (GRCm38) |
V174A |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,512,240 (GRCm38) |
E574G |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 104,036,159 (GRCm38) |
G997R |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 59,067,258 (GRCm38) |
C3748R |
probably damaging |
Het |
| Olfr346 |
A |
G |
2: 36,688,071 (GRCm38) |
D23G |
probably benign |
Het |
| Olfr466 |
T |
A |
13: 65,152,860 (GRCm38) |
V212D |
possibly damaging |
Het |
| Olfr494 |
T |
C |
7: 108,367,688 (GRCm38) |
L66P |
probably damaging |
Het |
| Olfr945 |
A |
T |
9: 39,258,318 (GRCm38) |
M118K |
probably damaging |
Het |
| Orc5 |
G |
T |
5: 22,548,005 (GRCm38) |
F10L |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,523,164 (GRCm38) |
T851A |
probably benign |
Het |
| Ranbp6 |
A |
T |
19: 29,810,863 (GRCm38) |
Y696* |
probably null |
Het |
| Rbp3 |
A |
G |
14: 33,956,099 (GRCm38) |
Q668R |
probably benign |
Het |
| Rfwd3 |
T |
C |
8: 111,276,358 (GRCm38) |
T611A |
probably benign |
Het |
| Rhcg |
T |
A |
7: 79,601,604 (GRCm38) |
D219V |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,409,136 (GRCm38) |
R400G |
probably benign |
Het |
| Slc25a26 |
G |
T |
6: 94,507,652 (GRCm38) |
V58F |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,577,329 (GRCm38) |
F434C |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,858,754 (GRCm38) |
Y61* |
probably null |
Het |
| Spef2 |
T |
C |
15: 9,647,438 (GRCm38) |
Y961C |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,587,326 (GRCm38) |
|
probably null |
Het |
| Svep1 |
T |
G |
4: 58,072,698 (GRCm38) |
N2204H |
probably damaging |
Het |
| Tmem86a |
C |
A |
7: 47,052,865 (GRCm38) |
P13T |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,303,650 (GRCm38) |
S672T |
probably benign |
Het |
| Tox2 |
G |
A |
2: 163,314,416 (GRCm38) |
S211N |
possibly damaging |
Het |
| Trpc6 |
A |
T |
9: 8,677,962 (GRCm38) |
E762D |
probably benign |
Het |
| Tshb |
C |
T |
3: 102,778,145 (GRCm38) |
|
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,388,272 (GRCm38) |
L163* |
probably null |
Het |
| Twsg1 |
G |
T |
17: 65,929,551 (GRCm38) |
D161E |
probably benign |
Het |
| Uchl4 |
A |
C |
9: 64,235,798 (GRCm38) |
D187A |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,048,181 (GRCm38) |
W9R |
probably benign |
Het |
| Zfp14 |
G |
A |
7: 30,038,595 (GRCm38) |
Q322* |
probably null |
Het |
| Znhit3 |
G |
A |
11: 84,911,490 (GRCm38) |
P145S |
probably damaging |
Het |
|
| Other mutations in Smarca5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Smarca5
|
APN |
8 |
80,714,041 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL01138:Smarca5
|
APN |
8 |
80,701,076 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01290:Smarca5
|
APN |
8 |
80,727,648 (GRCm38) |
missense |
probably benign |
|
|
IGL02338:Smarca5
|
APN |
8 |
80,719,570 (GRCm38) |
splice site |
probably benign |
|
|
IGL03212:Smarca5
|
APN |
8 |
80,711,781 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL03216:Smarca5
|
APN |
8 |
80,719,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Cipher
|
UTSW |
8 |
80,719,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Codebook
|
UTSW |
8 |
80,733,707 (GRCm38) |
missense |
probably benign |
|
|
Codex
|
UTSW |
8 |
80,710,563 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Encryption
|
UTSW |
8 |
80,704,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Enigma
|
UTSW |
8 |
80,705,332 (GRCm38) |
missense |
probably benign |
0.35 |
|
Key
|
UTSW |
8 |
80,726,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Sailor
|
UTSW |
8 |
80,736,726 (GRCm38) |
missense |
probably benign |
0.07 |
|
Soldier
|
UTSW |
8 |
80,719,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
tinker
|
UTSW |
8 |
80,733,750 (GRCm38) |
missense |
probably benign |
|
|
R0254:Smarca5
|
UTSW |
8 |
80,704,700 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0374:Smarca5
|
UTSW |
8 |
80,736,731 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0625:Smarca5
|
UTSW |
8 |
80,720,686 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1065:Smarca5
|
UTSW |
8 |
80,704,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1164:Smarca5
|
UTSW |
8 |
80,710,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1709:Smarca5
|
UTSW |
8 |
80,709,220 (GRCm38) |
nonsense |
probably null |
|
|
R2102:Smarca5
|
UTSW |
8 |
80,704,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3831:Smarca5
|
UTSW |
8 |
80,728,494 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4750:Smarca5
|
UTSW |
8 |
80,733,707 (GRCm38) |
missense |
probably benign |
|
|
R4822:Smarca5
|
UTSW |
8 |
80,708,680 (GRCm38) |
splice site |
probably null |
|
|
R4889:Smarca5
|
UTSW |
8 |
80,704,697 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5756:Smarca5
|
UTSW |
8 |
80,710,604 (GRCm38) |
missense |
probably benign |
|
|
R6120:Smarca5
|
UTSW |
8 |
80,711,743 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6582:Smarca5
|
UTSW |
8 |
80,719,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6939:Smarca5
|
UTSW |
8 |
80,705,320 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6972:Smarca5
|
UTSW |
8 |
80,704,751 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6973:Smarca5
|
UTSW |
8 |
80,704,751 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7027:Smarca5
|
UTSW |
8 |
80,736,726 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7376:Smarca5
|
UTSW |
8 |
80,726,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7514:Smarca5
|
UTSW |
8 |
80,717,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7962:Smarca5
|
UTSW |
8 |
80,736,759 (GRCm38) |
missense |
probably benign |
|
|
R8031:Smarca5
|
UTSW |
8 |
80,704,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8400:Smarca5
|
UTSW |
8 |
80,709,127 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8798:Smarca5
|
UTSW |
8 |
80,716,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8817:Smarca5
|
UTSW |
8 |
80,733,750 (GRCm38) |
missense |
probably benign |
|
|
R8824:Smarca5
|
UTSW |
8 |
80,705,332 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8905:Smarca5
|
UTSW |
8 |
80,713,948 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9018:Smarca5
|
UTSW |
8 |
80,704,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9028:Smarca5
|
UTSW |
8 |
80,714,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9203:Smarca5
|
UTSW |
8 |
80,704,629 (GRCm38) |
nonsense |
probably null |
|
|
R9253:Smarca5
|
UTSW |
8 |
80,719,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9294:Smarca5
|
UTSW |
8 |
80,719,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9328:Smarca5
|
UTSW |
8 |
80,720,749 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9396:Smarca5
|
UTSW |
8 |
80,736,729 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9514:Smarca5
|
UTSW |
8 |
80,702,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACCCAGGGCCATATTAAG -3'
(R):5'- CCTCCTATAGTCCAGGCTGATG -3'
Sequencing Primer
(F):5'- ACCCAGGGCCATATTAAGATATC -3'
(R):5'- CTTTACGATGGACACAGAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation