Mutagenetix > Incidental Mutation

Incidental Mutation 'R1561:Spen'

170594

Institutional Source

Beutler Lab

Gene Symbol

Spen

Ensembl Gene

ENSMUSG00000040761

Gene Name

spen family transcription repressor

Synonyms

Mint

MMRRC Submission

039600-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141195201-141265908 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 141199694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 2978 (G2978*)

Ref Sequence

ENSEMBL: ENSMUSP00000101412 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000078886
AA Change: G2955*

SMART Domains

Protein: ENSMUSP00000077925
Gene: ENSMUSG00000040761
AA Change: G2955*

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

probably null
Transcript: ENSMUST00000105786
AA Change: G2978*

SMART Domains

Protein: ENSMUSP00000101412
Gene: ENSMUSG00000040761
AA Change: G2978*

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: ENSMUST00000142438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147227

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,184,431 (GRCm39)	N69D	probably benign	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Ap1g2	T	C	14: 55,342,344 (GRCm39)	E171G	probably damaging	Het
Atg7	T	C	6: 114,678,133 (GRCm39)	V341A	possibly damaging	Het
Bace1	G	T	9: 45,750,492 (GRCm39)	R56L	probably benign	Het
Cd200l1	A	G	16: 45,262,875 (GRCm39)	V88A	possibly damaging	Het
Chfr	A	T	5: 110,306,674 (GRCm39)	D472V	probably benign	Het
Ckap2l	G	A	2: 129,112,645 (GRCm39)	T621I	probably benign	Het
Cmip	A	G	8: 118,180,589 (GRCm39)	T554A	probably benign	Het
Crocc	C	T	4: 140,757,579 (GRCm39)	E905K	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
F5	C	A	1: 164,014,472 (GRCm39)	S581*	probably null	Het
Fam227a	T	A	15: 79,520,963 (GRCm39)	Y291F	possibly damaging	Het
Gpr151	A	T	18: 42,712,221 (GRCm39)	S152R	probably benign	Het
Gpr158	A	T	2: 21,820,505 (GRCm39)		probably null	Het
Kcna5	T	C	6: 126,511,546 (GRCm39)	Y194C	probably damaging	Het
Khsrp	A	G	17: 57,332,639 (GRCm39)	S214P	probably benign	Het
Mrgprb1	C	G	7: 48,096,873 (GRCm39)		probably null	Het
Mrnip	C	T	11: 50,067,676 (GRCm39)	T30I	probably damaging	Het
Mtus2	A	C	5: 148,013,362 (GRCm39)	K52Q	probably benign	Het
Naca	G	T	10: 127,876,267 (GRCm39)		probably benign	Het
Obscn	T	G	11: 58,926,899 (GRCm39)	T5539P	probably damaging	Het
Or13p3	T	A	4: 118,566,751 (GRCm39)	I49N	probably damaging	Het
Or9m1	C	T	2: 87,733,505 (GRCm39)	V172I	probably benign	Het
Ovca2	A	G	11: 75,068,805 (GRCm39)	L198P	probably damaging	Het
Pdzrn4	T	C	15: 92,575,518 (GRCm39)	V308A	possibly damaging	Het
Pkd1l3	A	G	8: 110,341,445 (GRCm39)	I99M	unknown	Het
Polr3b	T	A	10: 84,470,776 (GRCm39)	M139K	probably damaging	Het
Prkag2	T	C	5: 25,076,593 (GRCm39)	Y191C	probably damaging	Het
Prss47	A	T	13: 65,194,062 (GRCm39)	C278S	probably damaging	Het
Ptprm	T	C	17: 67,247,536 (GRCm39)	T600A	probably damaging	Het
Ruvbl1	T	C	6: 88,456,136 (GRCm39)	V70A	probably damaging	Het
Sf3a1	T	C	11: 4,129,217 (GRCm39)	V726A	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc26a3	A	G	12: 31,516,451 (GRCm39)	N603S	probably benign	Het
Slc2a1	A	G	4: 118,993,606 (GRCm39)	E481G	possibly damaging	Het
Slc35a5	A	C	16: 44,971,884 (GRCm39)	S127A	possibly damaging	Het
Srrt	T	A	5: 137,298,281 (GRCm39)	E297V	probably benign	Het
Srsf4	T	A	4: 131,625,006 (GRCm39)	D134E	probably damaging	Het
Tdrd6	G	A	17: 43,936,515 (GRCm39)	S1511L	probably damaging	Het
Tmem65	T	A	15: 58,694,707 (GRCm39)	I91F	probably benign	Het
Top2b	A	G	14: 16,398,993 (GRCm38)	K538E	possibly damaging	Het
Trappc8	G	A	18: 20,974,680 (GRCm39)	R883*	probably null	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Vav3	T	C	3: 109,402,154 (GRCm39)		probably null	Het
Vmn1r42	C	T	6: 89,822,363 (GRCm39)	G69S	probably damaging	Het
Zan	A	T	5: 137,379,100 (GRCm39)	Y5333*	probably null	Het
Zfp994	A	C	17: 22,420,206 (GRCm39)	F248V	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
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
R5291:Spen	UTSW	4	141,215,390 (GRCm39)	missense	unknown
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'- TGACCAGCACTTCTGACTGCAC -3'
(R):5'- AAGGTTCTCACCCAGGGCATCAAC -3'

Sequencing Primer
(F):5'- GGTGATAATGAACCTCTTCCTCAGG -3'
(R):5'- AGTGCTCGTCCACAACC -3'

Posted On

2014-04-13