Mutagenetix > Incidental Mutation

Incidental Mutation 'R5291:Spen'

405139

Institutional Source

Beutler Lab

Gene Symbol

Spen

Ensembl Gene

ENSMUSG00000040761

Gene Name

spen family transcription repressor

Synonyms

Mint

MMRRC Submission

042874-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141195201-141265908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 141215390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 481 (A481S)

Ref Sequence

ENSEMBL: ENSMUSP00000101412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078886] [ENSMUST00000105786]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000078886
AA Change: A481S

SMART Domains

Protein: ENSMUSP00000077925
Gene: ENSMUSG00000040761
AA Change: A481S

Domain	Start	End	E-Value	Type
RRM	7	77	7.77e-12	SMART
low complexity region	109	121	N/A	INTRINSIC
low complexity region	235	257	N/A	INTRINSIC
low complexity region	262	311	N/A	INTRINSIC
RRM	338	411	8.6e-5	SMART
RRM	441	511	1.56e-16	SMART
RRM	520	587	1.84e-13	SMART
low complexity region	617	632	N/A	INTRINSIC
low complexity region	669	691	N/A	INTRINSIC
low complexity region	695	720	N/A	INTRINSIC
low complexity region	749	773	N/A	INTRINSIC
coiled coil region	800	825	N/A	INTRINSIC
low complexity region	830	841	N/A	INTRINSIC
internal_repeat_2	844	954	6.27e-5	PROSPERO
coiled coil region	1494	1522	N/A	INTRINSIC
low complexity region	1587	1627	N/A	INTRINSIC
low complexity region	1635	1641	N/A	INTRINSIC
low complexity region	1642	1671	N/A	INTRINSIC
low complexity region	1747	1758	N/A	INTRINSIC
low complexity region	1810	1823	N/A	INTRINSIC
low complexity region	1888	1903	N/A	INTRINSIC
low complexity region	1940	1955	N/A	INTRINSIC
low complexity region	2003	2012	N/A	INTRINSIC
internal_repeat_2	2015	2115	6.27e-5	PROSPERO
low complexity region	2127	2147	N/A	INTRINSIC
low complexity region	2169	2191	N/A	INTRINSIC
low complexity region	2207	2219	N/A	INTRINSIC
low complexity region	2304	2323	N/A	INTRINSIC
low complexity region	2332	2371	N/A	INTRINSIC
low complexity region	2396	2413	N/A	INTRINSIC
low complexity region	2518	2533	N/A	INTRINSIC
low complexity region	2545	2555	N/A	INTRINSIC
low complexity region	2696	2722	N/A	INTRINSIC
low complexity region	2931	2942	N/A	INTRINSIC
low complexity region	2994	3006	N/A	INTRINSIC
low complexity region	3192	3212	N/A	INTRINSIC
low complexity region	3299	3337	N/A	INTRINSIC
Pfam:SPOC	3465	3586	2.7e-29	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000105786
AA Change: A481S

SMART Domains

Protein: ENSMUSP00000101412
Gene: ENSMUSG00000040761
AA Change: A481S

Domain	Start	End	E-Value	Type
RRM	7	77	7.77e-12	SMART
low complexity region	109	121	N/A	INTRINSIC
low complexity region	235	257	N/A	INTRINSIC
low complexity region	262	311	N/A	INTRINSIC
RRM	338	411	8.6e-5	SMART
RRM	441	511	1.56e-16	SMART
RRM	520	587	1.84e-13	SMART
low complexity region	692	714	N/A	INTRINSIC
low complexity region	718	743	N/A	INTRINSIC
low complexity region	772	796	N/A	INTRINSIC
coiled coil region	823	848	N/A	INTRINSIC
low complexity region	853	864	N/A	INTRINSIC
internal_repeat_2	867	977	8.58e-5	PROSPERO
coiled coil region	1517	1545	N/A	INTRINSIC
low complexity region	1610	1650	N/A	INTRINSIC
low complexity region	1658	1664	N/A	INTRINSIC
low complexity region	1665	1694	N/A	INTRINSIC
low complexity region	1770	1781	N/A	INTRINSIC
low complexity region	1833	1846	N/A	INTRINSIC
low complexity region	1911	1926	N/A	INTRINSIC
low complexity region	1963	1978	N/A	INTRINSIC
low complexity region	2026	2035	N/A	INTRINSIC
internal_repeat_2	2038	2138	8.58e-5	PROSPERO
low complexity region	2150	2170	N/A	INTRINSIC
low complexity region	2192	2214	N/A	INTRINSIC
low complexity region	2230	2242	N/A	INTRINSIC
low complexity region	2327	2346	N/A	INTRINSIC
low complexity region	2355	2394	N/A	INTRINSIC
low complexity region	2419	2436	N/A	INTRINSIC
low complexity region	2541	2556	N/A	INTRINSIC
low complexity region	2568	2578	N/A	INTRINSIC
low complexity region	2719	2745	N/A	INTRINSIC
low complexity region	2954	2965	N/A	INTRINSIC
low complexity region	3017	3029	N/A	INTRINSIC
low complexity region	3215	3235	N/A	INTRINSIC
low complexity region	3322	3360	N/A	INTRINSIC
Pfam:SPOC	3488	3609	2.7e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152411

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during late gestation exhibiting morphological abnormalities of the heart, pancreas, and liver. Inactivation of this gene also affects the differentiation of B cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,394 (GRCm39)	S328G	probably damaging	Het
Acot5	T	G	12: 84,120,293 (GRCm39)	L216R	probably benign	Het
Ankrd6	A	G	4: 32,823,446 (GRCm39)	L192P	probably damaging	Het
Atp6v1e1	C	A	6: 120,795,294 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,540,293 (GRCm39)	Y358H	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Camk2a	A	G	18: 61,090,236 (GRCm39)	K192R	probably damaging	Het
Ceacam1	T	A	7: 25,171,256 (GRCm39)	R223W	probably damaging	Het
Cntn6	T	A	6: 104,703,096 (GRCm39)	F173I	probably damaging	Het
Cntrl	A	C	2: 35,024,072 (GRCm39)	I33L	probably damaging	Het
Crybg2	T	C	4: 133,800,738 (GRCm39)	S633P	probably benign	Het
Cyp2j13	T	C	4: 95,956,566 (GRCm39)	H181R	probably damaging	Het
Dlgap1	A	G	17: 71,025,205 (GRCm39)	S542G	probably benign	Het
Dnm2	T	G	9: 21,390,203 (GRCm39)	L402R	probably damaging	Het
Fndc3b	C	A	3: 27,697,144 (GRCm39)	V23L	probably benign	Het
Gata4	A	C	14: 63,478,048 (GRCm39)	F184V	probably damaging	Het
Gcnt2	A	G	13: 41,072,268 (GRCm39)	R304G	probably damaging	Het
Gm10563	TTTC	TTTCCTTC	4: 155,698,969 (GRCm39)		probably benign	Het
Gm26558	G	A	2: 70,491,873 (GRCm39)		probably benign	Het
Grip1	G	A	10: 119,922,874 (GRCm39)	V1107I	probably benign	Het
Herpud2	C	T	9: 25,036,256 (GRCm39)	G135S	probably benign	Het
Lrp1	A	G	10: 127,429,747 (GRCm39)	I441T	probably damaging	Het
Lrp1b	T	C	2: 40,793,015 (GRCm39)	D2553G	probably damaging	Het
Mkln1	T	A	6: 31,467,416 (GRCm39)	N43K	possibly damaging	Het
Or4c12	A	T	2: 89,773,780 (GRCm39)	Y226*	probably null	Het
Or5k17	T	C	16: 58,746,764 (GRCm39)	T57A	possibly damaging	Het
Paxbp1	C	T	16: 90,841,240 (GRCm39)	M1I	probably null	Het
Phip	A	G	9: 82,827,936 (GRCm39)	Y97H	probably damaging	Het
Plec	T	A	15: 76,058,211 (GRCm39)	I3774F	probably damaging	Het
Pramel11	G	T	4: 143,622,237 (GRCm39)	P373T	probably damaging	Het
Prrc2c	C	A	1: 162,533,151 (GRCm39)		probably benign	Het
Prss12	T	C	3: 123,299,112 (GRCm39)	L628P	probably damaging	Het
Ptpre	G	A	7: 135,280,030 (GRCm39)	V578I	probably benign	Het
Qsox2	A	T	2: 26,107,710 (GRCm39)	L261H	probably damaging	Het
Rapgef2	A	T	3: 78,977,366 (GRCm39)	V1327E	possibly damaging	Het
Rnf216	A	G	5: 143,075,967 (GRCm39)	S306P	probably benign	Het
Rtel1	A	G	2: 180,993,888 (GRCm39)	Q640R	possibly damaging	Het
Ryr1	T	A	7: 28,815,023 (GRCm39)	D175V	probably benign	Het
Scarf1	T	C	11: 75,414,900 (GRCm39)	S525P	probably damaging	Het
Senp7	T	A	16: 56,006,542 (GRCm39)	Y982*	probably null	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Sned1	A	G	1: 93,223,446 (GRCm39)	K1375E	possibly damaging	Het
Spats2	G	T	15: 99,076,422 (GRCm39)	A167S	probably benign	Het
Spred3	T	A	7: 28,867,255 (GRCm39)	H47L	probably damaging	Het
Srsf4	T	A	4: 131,613,617 (GRCm39)		probably benign	Het
Tdrd3	A	T	14: 87,743,234 (GRCm39)	H394L	probably benign	Het
Terf1	A	G	1: 15,889,310 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,675,144 (GRCm39)	D99V	possibly damaging	Het
Ugt1a7c	A	T	1: 88,023,231 (GRCm39)	N130I	possibly damaging	Het
Vmn2r50	T	A	7: 9,781,752 (GRCm39)	D331V	probably damaging	Het
Vps13d	A	G	4: 144,789,139 (GRCm39)	I744T	probably damaging	Het
Ythdc1	A	G	5: 86,983,547 (GRCm39)	D664G	probably damaging	Het

Other mutations in Spen

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Spen	APN	4	141,217,212 (GRCm39)	missense	unknown
IGL01357:Spen	APN	4	141,244,424 (GRCm39)	missense	unknown
IGL02184:Spen	APN	4	141,214,917 (GRCm39)	missense	unknown
IGL02226:Spen	APN	4	141,205,457 (GRCm39)	missense	unknown
IGL02321:Spen	APN	4	141,244,441 (GRCm39)	missense	unknown
IGL02350:Spen	APN	4	141,204,890 (GRCm39)	missense	unknown
IGL02357:Spen	APN	4	141,204,890 (GRCm39)	missense	unknown
IGL02627:Spen	APN	4	141,200,326 (GRCm39)	missense	probably damaging	0.99
IGL02683:Spen	APN	4	141,198,956 (GRCm39)	missense	probably benign	0.06
IGL02945:Spen	APN	4	141,221,624 (GRCm39)	missense	unknown
IGL02950:Spen	APN	4	141,196,819 (GRCm39)	missense	probably damaging	1.00
IGL03008:Spen	APN	4	141,203,448 (GRCm39)	missense	possibly damaging	0.70
IGL03019:Spen	APN	4	141,206,227 (GRCm39)	missense	unknown
IGL03038:Spen	APN	4	141,265,550 (GRCm39)	missense	unknown
IGL03334:Spen	APN	4	141,197,280 (GRCm39)	missense	probably damaging	1.00
filtered	UTSW	4	141,204,683 (GRCm39)	missense	unknown
mentholated	UTSW	4	141,196,711 (GRCm39)	missense	possibly damaging	0.78
R0105:Spen	UTSW	4	141,197,121 (GRCm39)	splice site	probably benign
R0268:Spen	UTSW	4	141,204,868 (GRCm39)	missense	unknown
R0359:Spen	UTSW	4	141,244,181 (GRCm39)	missense	unknown
R0394:Spen	UTSW	4	141,201,514 (GRCm39)	missense	probably benign	0.03
R0423:Spen	UTSW	4	141,206,647 (GRCm39)	missense	unknown
R0433:Spen	UTSW	4	141,211,069 (GRCm39)	missense	unknown
R0462:Spen	UTSW	4	141,200,962 (GRCm39)	missense	probably damaging	1.00
R0687:Spen	UTSW	4	141,215,339 (GRCm39)	missense	unknown
R0699:Spen	UTSW	4	141,201,702 (GRCm39)	missense	possibly damaging	0.72
R0865:Spen	UTSW	4	141,199,181 (GRCm39)	missense	probably benign	0.11
R0918:Spen	UTSW	4	141,212,875 (GRCm39)	missense	unknown
R1034:Spen	UTSW	4	141,203,063 (GRCm39)	missense	probably benign	0.33
R1341:Spen	UTSW	4	141,196,711 (GRCm39)	missense	possibly damaging	0.78
R1401:Spen	UTSW	4	141,199,132 (GRCm39)	missense	probably damaging	0.98
R1509:Spen	UTSW	4	141,202,946 (GRCm39)	missense	probably benign	0.00
R1509:Spen	UTSW	4	141,203,011 (GRCm39)	missense	possibly damaging	0.53
R1561:Spen	UTSW	4	141,199,694 (GRCm39)	nonsense	probably null
R1589:Spen	UTSW	4	141,215,335 (GRCm39)	missense	unknown
R1640:Spen	UTSW	4	141,196,254 (GRCm39)	missense	probably damaging	0.98
R1758:Spen	UTSW	4	141,203,686 (GRCm39)	missense	unknown
R1764:Spen	UTSW	4	141,200,261 (GRCm39)	missense	probably damaging	1.00
R1824:Spen	UTSW	4	141,200,096 (GRCm39)	missense	probably damaging	1.00
R1899:Spen	UTSW	4	141,197,654 (GRCm39)	missense	probably benign	0.17
R1916:Spen	UTSW	4	141,199,909 (GRCm39)	missense	probably damaging	1.00
R2011:Spen	UTSW	4	141,200,640 (GRCm39)	missense	probably damaging	1.00
R2295:Spen	UTSW	4	141,204,584 (GRCm39)	missense	unknown
R2379:Spen	UTSW	4	141,244,238 (GRCm39)	missense	unknown
R2404:Spen	UTSW	4	141,205,216 (GRCm39)	missense	unknown
R3719:Spen	UTSW	4	141,244,494 (GRCm39)	missense	unknown
R3889:Spen	UTSW	4	141,205,192 (GRCm39)	missense	unknown
R3945:Spen	UTSW	4	141,204,664 (GRCm39)	missense	unknown
R4227:Spen	UTSW	4	141,249,458 (GRCm39)	missense	unknown
R4326:Spen	UTSW	4	141,204,683 (GRCm39)	missense	unknown
R4382:Spen	UTSW	4	141,200,450 (GRCm39)	missense	possibly damaging	0.88
R4542:Spen	UTSW	4	141,204,097 (GRCm39)	missense	unknown
R4757:Spen	UTSW	4	141,200,390 (GRCm39)	nonsense	probably null
R4771:Spen	UTSW	4	141,199,907 (GRCm39)	missense	probably benign	0.14
R5072:Spen	UTSW	4	141,249,613 (GRCm39)	missense	unknown
R5121:Spen	UTSW	4	141,203,410 (GRCm39)	missense	probably benign	0.00
R5176:Spen	UTSW	4	141,203,587 (GRCm39)	missense	unknown
R5290:Spen	UTSW	4	141,201,127 (GRCm39)	missense	probably damaging	1.00
R5293:Spen	UTSW	4	141,199,717 (GRCm39)	missense	possibly damaging	0.89
R5347:Spen	UTSW	4	141,198,796 (GRCm39)	missense	probably benign	0.26
R5511:Spen	UTSW	4	141,244,149 (GRCm39)	missense	unknown
R5511:Spen	UTSW	4	141,202,375 (GRCm39)	missense	possibly damaging	0.86
R5772:Spen	UTSW	4	141,205,495 (GRCm39)	missense	unknown
R5834:Spen	UTSW	4	141,199,154 (GRCm39)	missense	possibly damaging	0.63
R5858:Spen	UTSW	4	141,201,182 (GRCm39)	missense	probably benign	0.05
R6214:Spen	UTSW	4	141,206,423 (GRCm39)	missense	unknown
R6232:Spen	UTSW	4	141,244,333 (GRCm39)	missense	unknown
R6345:Spen	UTSW	4	141,198,944 (GRCm39)	missense	possibly damaging	0.86
R6419:Spen	UTSW	4	141,203,621 (GRCm39)	missense	unknown
R6455:Spen	UTSW	4	141,202,820 (GRCm39)	missense	probably damaging	0.97
R6979:Spen	UTSW	4	141,205,374 (GRCm39)	missense	unknown
R6994:Spen	UTSW	4	141,220,770 (GRCm39)	missense	unknown
R7018:Spen	UTSW	4	141,220,755 (GRCm39)	missense	unknown
R7040:Spen	UTSW	4	141,221,693 (GRCm39)	missense	unknown
R7127:Spen	UTSW	4	141,203,419 (GRCm39)	missense	possibly damaging	0.53
R7218:Spen	UTSW	4	141,199,961 (GRCm39)	missense	possibly damaging	0.54
R7234:Spen	UTSW	4	141,206,446 (GRCm39)	missense	unknown
R7316:Spen	UTSW	4	141,204,365 (GRCm39)	missense	unknown
R7350:Spen	UTSW	4	141,206,696 (GRCm39)	missense	unknown
R7356:Spen	UTSW	4	141,199,235 (GRCm39)	nonsense	probably null
R7400:Spen	UTSW	4	141,201,052 (GRCm39)	missense	probably damaging	1.00
R7470:Spen	UTSW	4	141,206,605 (GRCm39)	missense	unknown
R7698:Spen	UTSW	4	141,200,156 (GRCm39)	missense	probably damaging	1.00
R7858:Spen	UTSW	4	141,215,442 (GRCm39)	splice site	probably null
R8033:Spen	UTSW	4	141,199,057 (GRCm39)	missense	probably benign	0.03
R8064:Spen	UTSW	4	141,203,011 (GRCm39)	missense	possibly damaging	0.53
R8159:Spen	UTSW	4	141,202,314 (GRCm39)	missense	possibly damaging	0.53
R8187:Spen	UTSW	4	141,200,216 (GRCm39)	missense	possibly damaging	0.93
R8463:Spen	UTSW	4	141,249,590 (GRCm39)	missense	unknown
R8557:Spen	UTSW	4	141,197,681 (GRCm39)	missense	probably benign	0.14
R8558:Spen	UTSW	4	141,197,681 (GRCm39)	missense	probably benign	0.14
R8672:Spen	UTSW	4	141,197,681 (GRCm39)	missense	probably benign	0.14
R8673:Spen	UTSW	4	141,197,681 (GRCm39)	missense	probably benign	0.14
R8674:Spen	UTSW	4	141,197,681 (GRCm39)	missense	probably benign	0.14
R8714:Spen	UTSW	4	141,215,314 (GRCm39)	missense	unknown
R8735:Spen	UTSW	4	141,197,129 (GRCm39)	missense	probably benign	0.32
R8762:Spen	UTSW	4	141,200,261 (GRCm39)	missense	probably damaging	1.00
R8877:Spen	UTSW	4	141,199,137 (GRCm39)	nonsense	probably null
R8878:Spen	UTSW	4	141,204,520 (GRCm39)	missense	unknown
R8937:Spen	UTSW	4	141,201,374 (GRCm39)	missense	probably damaging	1.00
R8939:Spen	UTSW	4	141,202,969 (GRCm39)	missense	possibly damaging	0.72
R8968:Spen	UTSW	4	141,197,701 (GRCm39)	missense	probably benign	0.02
R8971:Spen	UTSW	4	141,201,889 (GRCm39)	missense	possibly damaging	0.53
R9016:Spen	UTSW	4	141,200,938 (GRCm39)	missense	probably damaging	1.00
R9072:Spen	UTSW	4	141,203,702 (GRCm39)	missense	unknown
R9073:Spen	UTSW	4	141,203,702 (GRCm39)	missense	unknown
R9120:Spen	UTSW	4	141,200,233 (GRCm39)	missense
R9136:Spen	UTSW	4	141,249,623 (GRCm39)	missense	unknown
R9138:Spen	UTSW	4	141,196,797 (GRCm39)	missense	probably damaging	1.00
R9150:Spen	UTSW	4	141,244,468 (GRCm39)	missense	unknown
R9225:Spen	UTSW	4	141,202,943 (GRCm39)	missense	possibly damaging	0.53
R9492:Spen	UTSW	4	141,199,098 (GRCm39)	missense	probably benign	0.26
R9537:Spen	UTSW	4	141,244,156 (GRCm39)	small deletion	probably benign
R9537:Spen	UTSW	4	141,199,015 (GRCm39)	missense	probably benign	0.15
R9602:Spen	UTSW	4	141,205,183 (GRCm39)	missense	unknown
R9609:Spen	UTSW	4	141,215,419 (GRCm39)	missense	unknown
R9686:Spen	UTSW	4	141,199,946 (GRCm39)	missense	probably benign	0.27
R9697:Spen	UTSW	4	141,196,275 (GRCm39)	missense	probably damaging	1.00
R9713:Spen	UTSW	4	141,244,331 (GRCm39)	missense	unknown
T0722:Spen	UTSW	4	141,201,664 (GRCm39)	missense	probably benign	0.33
T0975:Spen	UTSW	4	141,201,664 (GRCm39)	missense	probably benign	0.33
Z1088:Spen	UTSW	4	141,205,287 (GRCm39)	missense	unknown
Z1088:Spen	UTSW	4	141,205,288 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTAACTGTCCTTCTGCAGC -3'
(R):5'- AGTTGCTTTTCTCCAGGAGCC -3'

Sequencing Primer
(F):5'- CTTCTGCAGCCCGAAAATAGTAAGG -3'
(R):5'- GGGCTTGCCTCCATTAAATG -3'

Posted On

2016-07-22