Mutagenetix > Incidental Mutation

Incidental Mutation 'R1857:Smarcd1'

206264

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

039881-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.844) question?

Stock #

R1857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99600175-99611872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99607295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 382 (K382E)

Ref Sequence

ENSEMBL: ENSMUSP00000155750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023759] [ENSMUST00000163472] [ENSMUST00000229236] [ENSMUST00000230530]

AlphaFold

Q61466

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023759
AA Change: K423E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023759
Gene: ENSMUSG00000023018
AA Change: K423E

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

probably benign
Transcript: ENSMUST00000163472

SMART Domains

Protein: ENSMUSP00000128823
Gene: ENSMUSG00000091604

Domain	Start	End	E-Value	Type
low complexity region	18	42	N/A	INTRINSIC
low complexity region	44	78	N/A	INTRINSIC
low complexity region	85	93	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000229236
AA Change: K382E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230504

Predicted Effect

probably benign
Transcript: ENSMUST00000230530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230748

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.2%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,766,789 (GRCm39)	I57N	probably damaging	Het
Abca15	T	C	7: 119,960,592 (GRCm39)	S685P	probably damaging	Het
Adpgk	G	T	9: 59,222,248 (GRCm39)	V392L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amdhd1	A	T	10: 93,367,416 (GRCm39)	I246N	probably damaging	Het
Amhr2	T	A	15: 102,355,212 (GRCm39)	L165*	probably null	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Ccdc33	T	C	9: 57,939,991 (GRCm39)	N750S	possibly damaging	Het
Cdh23	A	G	10: 60,159,076 (GRCm39)	I2233T	probably damaging	Het
Cfap46	C	A	7: 139,233,324 (GRCm39)	V774F	probably damaging	Het
Cfap69	G	T	5: 5,632,518 (GRCm39)	T362K	possibly damaging	Het
Cnih3	A	G	1: 181,277,638 (GRCm39)	H101R	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp2j5	T	C	4: 96,547,723 (GRCm39)	E173G	possibly damaging	Het
Cyp3a41b	T	A	5: 145,503,660 (GRCm39)	I296F	probably benign	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dync1h1	T	A	12: 110,629,059 (GRCm39)	F4205L	probably damaging	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif3h	T	C	15: 51,662,674 (GRCm39)	Y124C	probably damaging	Het
Eif4g3	A	T	4: 137,903,187 (GRCm39)	Q1169L	possibly damaging	Het
Endod1	T	A	9: 14,268,405 (GRCm39)	H360L	probably benign	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Frem2	T	A	3: 53,562,294 (GRCm39)	T738S	probably benign	Het
Gm1527	A	T	3: 28,957,539 (GRCm39)	T148S	probably damaging	Het
Gm4894	T	C	9: 49,189,976 (GRCm39)	S84P	unknown	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il1f10	A	T	2: 24,182,817 (GRCm39)	D31V	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp11	A	T	10: 75,764,191 (GRCm39)	D91E	probably benign	Het
Mpped2	T	C	2: 106,613,989 (GRCm39)	Y108H	probably damaging	Het
Mroh9	A	G	1: 162,866,714 (GRCm39)	V674A	probably damaging	Het
Mtor	G	T	4: 148,565,336 (GRCm39)	Q1015H	probably damaging	Het
Mylk3	G	A	8: 86,055,223 (GRCm39)	T711I	probably damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Neurl4	G	T	11: 69,796,361 (GRCm39)	G435V	probably damaging	Het
Nipal2	A	G	15: 34,678,779 (GRCm39)	S21P	possibly damaging	Het
Nphp1	T	A	2: 127,612,296 (GRCm39)	D217V	probably benign	Het
Nphp3	T	C	9: 103,898,493 (GRCm39)	I432T	possibly damaging	Het
Oprd1	T	G	4: 131,840,992 (GRCm39)	D322A	probably damaging	Het
Or10ag2	T	C	2: 87,248,992 (GRCm39)	L198P	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or56a3b	T	G	7: 104,770,751 (GRCm39)	L29R	probably benign	Het
Pcdh10	C	A	3: 45,334,372 (GRCm39)	Q229K	possibly damaging	Het
Pdlim7	G	A	13: 55,653,858 (GRCm39)	T253M	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Pigc	T	G	1: 161,798,446 (GRCm39)	S143A	possibly damaging	Het
Pkd1l2	T	C	8: 117,767,408 (GRCm39)	D1294G	possibly damaging	Het
Ppp2r1a	T	C	17: 21,181,951 (GRCm39)	S490P	possibly damaging	Het
Ppp2r3d	T	A	9: 101,090,092 (GRCm39)	N77I	probably damaging	Het
Pramel17	T	C	4: 101,692,770 (GRCm39)	Y410C	probably damaging	Het
Pramel29	C	T	4: 143,935,091 (GRCm39)	V217I	possibly damaging	Het
Prl7a2	A	T	13: 27,843,163 (GRCm39)	C213*	probably null	Het
Prpf8	T	A	11: 75,386,249 (GRCm39)		probably null	Het
Psmd7	A	T	8: 108,311,525 (GRCm39)	N109K	probably damaging	Het
Ptprn	T	C	1: 75,224,549 (GRCm39)	K936E	possibly damaging	Het
Ro60	T	C	1: 143,646,488 (GRCm39)	T86A	probably benign	Het
Ror1	A	T	4: 100,298,700 (GRCm39)	Q691L	probably damaging	Het
Sars2	A	G	7: 28,449,437 (GRCm39)	M322V	probably benign	Het
Scfd2	C	A	5: 74,372,962 (GRCm39)	E638*	probably null	Het
Scgb3a2	A	G	18: 43,899,900 (GRCm39)	T63A	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Sox5	T	A	6: 143,906,541 (GRCm39)	S305C	probably damaging	Het
Sp5	C	A	2: 70,307,213 (GRCm39)	H299Q	possibly damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Tmprss6	A	G	15: 78,336,752 (GRCm39)	F383L	probably damaging	Het
Ttc23	T	C	7: 67,328,821 (GRCm39)		probably null	Het
Ugt2b34	T	C	5: 87,052,241 (GRCm39)	T252A	possibly damaging	Het
Vangl2	A	T	1: 171,837,464 (GRCm39)	L115Q	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vwa5b1	A	G	4: 138,296,413 (GRCm39)	F1205L	probably damaging	Het
Zfp951	G	C	5: 104,962,723 (GRCm39)	T281R	probably damaging	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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
R8872:Smarcd1	UTSW	15	99,608,975 (GRCm39)	missense	probably damaging	1.00
X0026:Smarcd1	UTSW	15	99,600,330 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GACCTTTGCAGTCGCTTTG -3'
(R):5'- ACGTTAACAGGCAGCTCTAGG -3'

Sequencing Primer
(F):5'- TAGGTCTCAGGGACAGCCATTTAC -3'
(R):5'- CAGCTCTAGGTGCATGTGTG -3'

Posted On

2014-06-23