Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Ints11'

32626

Institutional Source

Beutler Lab

Gene Symbol

Ints11

Ensembl Gene

ENSMUSG00000029034

Gene Name

integrator complex subunit 11

Synonyms

2410006F12Rik, Cpsf3l

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0013 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

155869546-155889103 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155887168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 315 (F315S)

Ref Sequence

ENSEMBL: ENSMUSP00000112656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030901] [ENSMUST00000079031] [ENSMUST00000097737] [ENSMUST00000105584] [ENSMUST00000120794] [ENSMUST00000156460]

AlphaFold

Q9CWS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030901
AA Change: F337S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030901
Gene: ENSMUSG00000029034
AA Change: F337S

Domain	Start	End	E-Value	Type
Lactamase_B	16	233	3.38e-17	SMART
Beta-Casp	245	363	6.94e-37	SMART
Pfam:RMMBL	376	418	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079031

SMART Domains

Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
PH	265	361	6.35e-16	SMART
low complexity region	377	391	N/A	INTRINSIC
ArfGap	399	521	4.62e-56	SMART
low complexity region	554	566	N/A	INTRINSIC
low complexity region	601	617	N/A	INTRINSIC
low complexity region	628	650	N/A	INTRINSIC
low complexity region	669	686	N/A	INTRINSIC
ANK	696	725	3.91e-3	SMART
ANK	729	758	2.43e1	SMART
low complexity region	781	796	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097737

SMART Domains

Protein: ENSMUSP00000095344
Gene: ENSMUSG00000051557

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_1	16	124	2.5e-12	PFAM
Pfam:PseudoU_synth_1	168	285	1.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105584

SMART Domains

Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033

Domain	Start	End	E-Value	Type
Pfam:BAR_3	3	236	4.1e-95	PFAM
PH	269	365	6.35e-16	SMART
low complexity region	381	395	N/A	INTRINSIC
ArfGap	403	525	4.62e-56	SMART
low complexity region	558	570	N/A	INTRINSIC
low complexity region	605	621	N/A	INTRINSIC
low complexity region	632	654	N/A	INTRINSIC
low complexity region	673	690	N/A	INTRINSIC
ANK	700	729	3.91e-3	SMART
ANK	733	762	2.43e1	SMART
low complexity region	785	800	N/A	INTRINSIC
low complexity region	801	813	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120794
AA Change: F315S

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

SMART Domains

Protein: ENSMUSP00000112656
Gene: ENSMUSG00000029034
AA Change: F315S

Domain	Start	End	E-Value	Type
Lactamase_B	16	211	6.42e-9	SMART
Beta-Casp	223	341	6.94e-37	SMART
Pfam:RMMBL	354	396	3.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142566

Predicted Effect

probably benign
Transcript: ENSMUST00000156460

SMART Domains

Protein: ENSMUSP00000118803
Gene: ENSMUSG00000029034

Domain	Start	End	E-Value	Type
SCOP:d1smla_	1	66	7e-7	SMART
PDB:2I7V\|A	3	38	1e-9	PDB
Blast:Lactamase_B	16	66	4e-30	BLAST

Meta Mutation Damage Score

0.9528

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,457,512	M156V	probably benign	Het
Adnp2	A	T	18: 80,129,745	V483D	probably damaging	Het
Aff1	G	T	5: 103,828,484	E491*	probably null	Het
Agl	A	T	3: 116,776,608	C911*	probably null	Het
Akt2	A	G	7: 27,636,058	D284G	probably damaging	Het
Alox15	A	G	11: 70,349,635	M240T	possibly damaging	Het
Antxr2	A	G	5: 97,979,985	V229A	probably damaging	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Btaf1	A	G	19: 36,958,373	T188A	probably benign	Het
Btnl6	G	A	17: 34,515,531	Q86*	probably null	Het
C2cd3	T	A	7: 100,416,062	L685H	probably damaging	Het
Cdh23	T	C	10: 60,413,173	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,202,149	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,755,836	T2500S	possibly damaging	Het
Def6	A	G	17: 28,217,092	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,993,635	F448L	probably damaging	Het
Dner	C	T	1: 84,494,893		probably benign	Het
Dnmbp	G	A	19: 43,902,231	P366S	probably benign	Het
Eif4g3	T	C	4: 138,175,848	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,912,901		probably benign	Het
Faah	C	A	4: 116,004,391	L305F	probably damaging	Het
Fam71b	A	G	11: 46,406,804	T312A	unknown	Het
Flt1	A	G	5: 147,571,014		probably benign	Het
Fyco1	A	T	9: 123,822,406	N1196K	probably benign	Het
Galnt18	T	C	7: 111,554,457	N320S	probably damaging	Het
Glp2r	C	A	11: 67,709,712	G437V	possibly damaging	Het
Gm4884	T	C	7: 41,044,292	S562P	probably damaging	Het
Gm9936	A	G	5: 114,857,347		probably benign	Het
Gpn2	C	A	4: 133,584,792	P112T	probably damaging	Het
Grm4	A	G	17: 27,431,575	Y816H	probably benign	Het
Helz2	A	T	2: 181,240,959	S14T	probably benign	Het
Htt	T	C	5: 34,820,104	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060	S129P	probably damaging	Het
Itga11	A	T	9: 62,776,613	N1059Y	possibly damaging	Het
Jak3	A	G	8: 71,684,327	S716G	probably damaging	Het
Kcns1	G	T	2: 164,168,643	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715	K1305N	probably benign	Het
Kif26a	G	T	12: 112,177,880	V1523L	probably benign	Het
Mboat7	A	G	7: 3,683,822	S340P	probably damaging	Het
Mctp2	T	C	7: 72,229,408	I234V	probably benign	Het
Mex3c	G	A	18: 73,590,551	A572T	probably benign	Het
Mpp3	C	A	11: 102,005,425	R424L	probably benign	Het
Mroh4	T	A	15: 74,608,237		probably benign	Het
Myo9a	A	T	9: 59,860,206		probably benign	Het
Myog	T	A	1: 134,290,235	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,571,225		probably null	Het
Notch1	A	G	2: 26,473,818	V868A	possibly damaging	Het
Olfr352	A	G	2: 36,870,160	N198S	probably damaging	Het
Olfr59	T	A	11: 74,289,051	I135N	possibly damaging	Het
Olfr73	T	C	2: 88,034,266	Y291C	possibly damaging	Het
Olfr980	A	T	9: 40,006,355	I198N	probably damaging	Het
Pink1	T	C	4: 138,317,401	T342A	probably benign	Het
Plb1	T	A	5: 32,349,615		probably benign	Het
Plec	T	C	15: 76,178,246	D2524G	probably damaging	Het
Plekhg4	G	T	8: 105,375,396	E6*	probably null	Het
Polq	T	C	16: 37,061,839	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,249,058		probably benign	Het
Prkaca	G	A	8: 83,988,303	M119I	possibly damaging	Het
Prss46	G	T	9: 110,850,055	S108I	probably damaging	Het
Ptma	C	T	1: 86,529,776		probably benign	Het
Rab11fip4	C	T	11: 79,689,653	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409	M437K	probably benign	Het
Rrn3	T	A	16: 13,813,113	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,348,405		probably benign	Het
Sis	A	G	3: 72,910,476	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,707,918	M1450V	probably benign	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sntg1	T	C	1: 8,463,462	T323A	probably damaging	Het
Son	C	T	16: 91,651,662	T37I	probably damaging	Het
Stk17b	T	C	1: 53,764,132	I41M	probably benign	Het
Tgm5	T	A	2: 121,076,882	Y120F	probably damaging	Het
Tppp	A	G	13: 74,021,360	K73R	possibly damaging	Het
Ttn	C	T	2: 76,907,752	V4148I	probably benign	Het
Ttn	C	A	2: 76,739,158	K27130N	probably damaging	Het
Uba7	A	T	9: 107,978,249	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,542,576		probably benign	Het
Zcchc11	T	A	4: 108,530,955		probably benign	Het
Zfp839	T	A	12: 110,868,386	S692T	possibly damaging	Het

Other mutations in Ints11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Ints11	APN	4	155885126	missense	probably damaging	1.00
IGL01515:Ints11	APN	4	155875232	missense	probably damaging	1.00
IGL01613:Ints11	APN	4	155885198	critical splice donor site	probably null
IGL02024:Ints11	APN	4	155888515	missense	probably damaging	1.00
IGL02127:Ints11	APN	4	155886863	missense	probably damaging	1.00
IGL02850:Ints11	APN	4	155875304	missense	probably benign	0.03
IGL02926:Ints11	APN	4	155888111	critical splice donor site	probably null
IGL03296:Ints11	APN	4	155885323	critical splice donor site	probably null
IGL03357:Ints11	APN	4	155872124	splice site	probably benign
R0013:Ints11	UTSW	4	155887168	missense	probably damaging	1.00
R0449:Ints11	UTSW	4	155887948	missense	probably benign	0.17
R0480:Ints11	UTSW	4	155887624	missense	probably damaging	1.00
R0589:Ints11	UTSW	4	155886886	missense	probably damaging	1.00
R0678:Ints11	UTSW	4	155887753	missense	probably damaging	1.00
R0865:Ints11	UTSW	4	155887107	splice site	probably null
R1135:Ints11	UTSW	4	155887927	splice site	probably null
R1466:Ints11	UTSW	4	155888110	critical splice donor site	probably null
R1466:Ints11	UTSW	4	155888110	critical splice donor site	probably null
R1658:Ints11	UTSW	4	155887728	missense	probably damaging	0.97
R1707:Ints11	UTSW	4	155875198	missense	probably benign	0.21
R2199:Ints11	UTSW	4	155875281	missense	probably benign	0.07
R2876:Ints11	UTSW	4	155887425	unclassified	probably benign
R4567:Ints11	UTSW	4	155885675	missense	probably damaging	1.00
R4900:Ints11	UTSW	4	155888430	missense	probably benign	0.01
R4964:Ints11	UTSW	4	155886928	missense	probably damaging	1.00
R4966:Ints11	UTSW	4	155886928	missense	probably damaging	1.00
R5306:Ints11	UTSW	4	155875208	missense	probably damaging	1.00
R5963:Ints11	UTSW	4	155872912	nonsense	probably null
R6246:Ints11	UTSW	4	155888089	missense	probably benign
R7285:Ints11	UTSW	4	155886111	missense	probably damaging	1.00
R7365:Ints11	UTSW	4	155872230	splice site	probably null
R7768:Ints11	UTSW	4	155886939	missense	probably damaging	0.97
R7774:Ints11	UTSW	4	155885683	missense	probably benign	0.00
R7999:Ints11	UTSW	4	155886956	missense	probably benign	0.12
R8103:Ints11	UTSW	4	155888230	missense	possibly damaging	0.93
R8785:Ints11	UTSW	4	155869708	missense	probably benign	0.17
R8825:Ints11	UTSW	4	155885130	nonsense	probably null
Z1088:Ints11	UTSW	4	155886970	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TAAGGCCCTGGCAATCAGCTTCTC -3'
(R):5'- ATGACAGACACTGCCTCCTGGAAC -3'

Sequencing Primer
(F):5'- GGCAATCAGCTTCTCCACATC -3'
(R):5'- AGCCCCTGGAGTGAATTCTC -3'

Posted On

2013-05-09