Mutagenetix > Incidental Mutation

Incidental Mutation 'R8872:Smarcd1'

676389

Institutional Source

Beutler Lab

Gene Symbol

Smarcd1

Ensembl Gene

ENSMUSG00000023018

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1

Synonyms

D15Kz1, Baf60a

MMRRC Submission

068743-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R8872 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99600175-99611872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99608975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 383 (I383N)

Ref Sequence

ENSEMBL: ENSMUSP00000155750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023759] [ENSMUST00000229236]

AlphaFold

Q61466

Predicted Effect

probably damaging
Transcript: ENSMUST00000023759
AA Change: I424N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023759
Gene: ENSMUSG00000023018
AA Change: I424N

Domain	Start	End	E-Value	Type
low complexity region	9	38	N/A	INTRINSIC
low complexity region	103	117	N/A	INTRINSIC
Blast:KISc	124	271	2e-43	BLAST
SWIB	291	370	1.97e-35	SMART
Blast:MYSc	452	498	2e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161529

Predicted Effect

probably damaging
Transcript: ENSMUST00000229236
AA Change: I383N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230748

Meta Mutation Damage Score

0.9590

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

99% (74/75)

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, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,401,164 (GRCm39)	S150G	possibly damaging	Het
Alpk2	A	T	18: 65,413,977 (GRCm39)	S1579R	probably damaging	Het
Ank2	C	T	3: 126,791,525 (GRCm39)	E814K	possibly damaging	Het
Cep57	A	G	9: 13,737,980 (GRCm39)		probably benign	Het
Cntnap4	A	T	8: 113,585,759 (GRCm39)	R1127S	possibly damaging	Het
Comt	C	A	16: 18,245,239 (GRCm39)		probably benign	Het
Crlf3	T	C	11: 79,938,440 (GRCm39)	N399S		Het
Crls1	T	A	2: 132,691,819 (GRCm39)	S115T	probably benign	Het
Dixdc1	A	G	9: 50,614,453 (GRCm39)	S199P	possibly damaging	Het
Dsc3	T	C	18: 20,122,679 (GRCm39)	T82A	probably benign	Het
Efcab3	T	G	11: 104,760,880 (GRCm39)	L2411R	probably benign	Het
Exosc6	T	A	8: 111,783,784 (GRCm39)	V261E	probably damaging	Het
Fbxw17	C	T	13: 50,586,300 (GRCm39)	S361L	probably benign	Het
Gfap	T	A	11: 102,786,620 (GRCm39)	N157Y	possibly damaging	Het
Gigyf2	A	T	1: 87,307,725 (GRCm39)	D177V	unknown	Het
Gls2	A	T	10: 128,040,535 (GRCm39)	Q312L	probably benign	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Greb1l	A	T	18: 10,529,684 (GRCm39)	M889L	probably benign	Het
Gucy1a1	T	A	3: 82,016,049 (GRCm39)	D313V	probably damaging	Het
H2-T5	T	A	17: 36,476,293 (GRCm39)	I324F	probably benign	Het
Herpud1	C	T	8: 95,113,213 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il27	A	C	7: 126,190,194 (GRCm39)	L140R	probably damaging	Het
Jarid2	T	C	13: 45,055,984 (GRCm39)	S397P	possibly damaging	Het
Kdm5a	A	C	6: 120,365,101 (GRCm39)	D334A	probably damaging	Het
Lman2	T	C	13: 55,496,197 (GRCm39)	T283A	probably benign	Het
Lrfn2	C	T	17: 49,378,277 (GRCm39)	Q453*	probably null	Het
Lrrfip2	A	G	9: 111,034,824 (GRCm39)	E171G	possibly damaging	Het
Mboat1	T	A	13: 30,410,397 (GRCm39)	Y285N	probably damaging	Het
Med15	C	A	16: 17,470,605 (GRCm39)	S734I	probably damaging	Het
Mgat4c	T	A	10: 102,224,146 (GRCm39)	I120N	probably damaging	Het
Ms4a4d	T	C	19: 11,530,251 (GRCm39)	M104T	possibly damaging	Het
Mtf2	A	T	5: 108,247,051 (GRCm39)	M330L	probably benign	Het
Myoc	T	C	1: 162,475,013 (GRCm39)	V188A	probably benign	Het
Nos2	T	A	11: 78,839,949 (GRCm39)	I686N	probably damaging	Het
Npffr1	T	C	10: 61,461,794 (GRCm39)	V310A	probably benign	Het
Nrap	T	C	19: 56,308,627 (GRCm39)	*1729W	probably null	Het
Odam	A	G	5: 88,035,797 (GRCm39)		probably null	Het
Olfm4	G	T	14: 80,258,943 (GRCm39)	R397L	probably damaging	Het
Or1p1c	T	G	11: 74,160,120 (GRCm39)		probably benign	Het
Polr1b	T	C	2: 128,957,613 (GRCm39)	V556A	probably damaging	Het
Prl3d3	A	G	13: 27,346,324 (GRCm39)	D186G	possibly damaging	Het
Psmc5	C	A	11: 106,152,746 (GRCm39)	Y189*	probably null	Het
Rasgrp4	A	G	7: 28,838,521 (GRCm39)	Y123C	possibly damaging	Het
Rtn4	A	G	11: 29,658,633 (GRCm39)	E929G	probably benign	Het
Scrn2	A	T	11: 96,922,961 (GRCm39)	I135F	probably damaging	Het
Sec24d	T	A	3: 123,148,585 (GRCm39)		probably benign	Het
Secisbp2l	T	C	2: 125,594,892 (GRCm39)	T523A	probably benign	Het
Skic3	T	C	13: 76,333,326 (GRCm39)	L1525P	probably damaging	Het
Slain1	T	A	14: 103,925,841 (GRCm39)		probably null	Het
Slc22a29	A	G	19: 8,137,931 (GRCm39)	V548A	probably damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Slc30a7	A	T	3: 115,740,317 (GRCm39)	M378K	possibly damaging	Het
Spata31h1	A	T	10: 82,128,619 (GRCm39)	S1464T	probably benign	Het
Spdye4b	G	T	5: 143,187,815 (GRCm39)	K156N	probably damaging	Het
Sptb	A	G	12: 76,658,813 (GRCm39)	Y1241H	probably benign	Het
Ssu2	G	A	6: 112,357,956 (GRCm39)	T129I	probably damaging	Het
Supt16	A	G	14: 52,411,544 (GRCm39)	V613A	probably benign	Het
Sycp3	A	T	10: 88,302,388 (GRCm39)	E126V	probably damaging	Het
Tatdn2	A	T	6: 113,681,170 (GRCm39)	Y401F	probably damaging	Het
Tigd4	T	C	3: 84,501,547 (GRCm39)	S155P	probably benign	Het
Tnrc6b	A	G	15: 80,802,290 (GRCm39)	N1502S	probably benign	Het
Ttf2	A	G	3: 100,870,644 (GRCm39)	V143A	probably benign	Het
Ttn	T	A	2: 76,618,747 (GRCm39)	D16179V	probably damaging	Het
Vmn2r106	A	T	17: 20,488,401 (GRCm39)	M666K	probably benign	Het
Vwa5b1	A	T	4: 138,305,956 (GRCm39)	V914D	probably damaging	Het
Wnk2	T	C	13: 49,210,960 (GRCm39)	M1632V	probably benign	Het
Zbtb26	T	A	2: 37,326,913 (GRCm39)	N41I	probably damaging	Het
Zc3h12a	T	C	4: 125,020,412 (GRCm39)	N144D	probably damaging	Het
Zfp266	A	T	9: 20,411,275 (GRCm39)	C301S	probably benign	Het
Zfp580	A	G	7: 5,056,216 (GRCm39)	H192R	possibly damaging	Het
Zfp748	A	G	13: 67,689,914 (GRCm39)	C449R	probably damaging	Het
Zp2	T	C	7: 119,733,025 (GRCm39)	I612V	probably benign	Het

Other mutations in Smarcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Smarcd1	APN	15	99,610,094 (GRCm39)	missense	probably benign	0.10
IGL01714:Smarcd1	APN	15	99,610,302 (GRCm39)	missense	probably damaging	1.00
IGL02488:Smarcd1	APN	15	99,609,082 (GRCm39)	missense	possibly damaging	0.83
P0021:Smarcd1	UTSW	15	99,610,242 (GRCm39)	splice site	probably benign
R0597:Smarcd1	UTSW	15	99,608,975 (GRCm39)	missense	probably damaging	1.00
R0645:Smarcd1	UTSW	15	99,605,267 (GRCm39)	splice site	probably null
R1531:Smarcd1	UTSW	15	99,605,264 (GRCm39)	missense	probably damaging	1.00
R1661:Smarcd1	UTSW	15	99,605,519 (GRCm39)	critical splice acceptor site	probably null
R1857:Smarcd1	UTSW	15	99,607,295 (GRCm39)	missense	probably damaging	0.97
R3003:Smarcd1	UTSW	15	99,610,065 (GRCm39)	missense	probably damaging	1.00
R4170:Smarcd1	UTSW	15	99,605,812 (GRCm39)	missense	probably damaging	1.00
R4964:Smarcd1	UTSW	15	99,605,862 (GRCm39)	missense	possibly damaging	0.79
R5116:Smarcd1	UTSW	15	99,600,369 (GRCm39)	missense	probably benign	0.00
R5358:Smarcd1	UTSW	15	99,601,128 (GRCm39)	nonsense	probably null
R5559:Smarcd1	UTSW	15	99,601,176 (GRCm39)	critical splice donor site	probably null
R6026:Smarcd1	UTSW	15	99,603,619 (GRCm39)	missense	probably damaging	1.00
R6424:Smarcd1	UTSW	15	99,602,248 (GRCm39)	missense	probably damaging	1.00
R6450:Smarcd1	UTSW	15	99,605,766 (GRCm39)	missense	possibly damaging	0.85
R7126:Smarcd1	UTSW	15	99,607,206 (GRCm39)	missense	probably damaging	1.00
R8476:Smarcd1	UTSW	15	99,600,305 (GRCm39)	missense	probably damaging	0.99
R8487:Smarcd1	UTSW	15	99,605,657 (GRCm39)	missense	probably damaging	0.96
X0026:Smarcd1	UTSW	15	99,600,330 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CAACTTTCCTTACCTGGATAGAAGC -3'
(R):5'- AACAAGACCGGTGATCCCTC -3'

Sequencing Primer
(F):5'- TTCCTTACCTGGATAGAAGCAAGCAC -3'
(R):5'- CTCTCTGCACAGGAGTAAAGTGAC -3'

Posted On

2021-07-15