Mutagenetix > Incidental Mutation

Incidental Mutation 'R5306:Ints4'

404565

Institutional Source

Beutler Lab

Gene Symbol

Ints4

Ensembl Gene

ENSMUSG00000025133

Gene Name

integrator complex subunit 4

Synonyms

2610034N24Rik

MMRRC Submission

042889-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97130163-97190602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 97158885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 419 (D419A)

Ref Sequence

ENSEMBL: ENSMUSP00000026126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026126]

AlphaFold

Q8CIM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026126
AA Change: D419A

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

SMART Domains

Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
AA Change: D419A

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	153	258	9.8e-9	PFAM
Pfam:Cohesin_HEAT	179	219	7.7e-6	PFAM
low complexity region	518	527	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206644

Meta Mutation Damage Score

0.7670

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,324,792 (GRCm39)	D554V	probably damaging	Het
Ankrd44	G	A	1: 54,965,362 (GRCm39)		probably benign	Het
Api5	A	T	2: 94,253,811 (GRCm39)	C297*	probably null	Het
Asb14	G	A	14: 26,633,866 (GRCm39)	C357Y	probably damaging	Het
Brd10	A	G	19: 29,707,230 (GRCm39)		probably benign	Het
Brdt	T	A	5: 107,493,010 (GRCm39)	D112E	probably damaging	Het
Capsl	C	A	15: 9,457,876 (GRCm39)	Q32K	probably benign	Het
Ccdc106	A	G	7: 5,061,096 (GRCm39)	D81G	probably damaging	Het
Ccdc121rt3	T	C	5: 112,502,910 (GRCm39)	R265G	probably benign	Het
Cep104	C	A	4: 154,090,699 (GRCm39)	T884K	probably benign	Het
Cmbl	T	C	15: 31,582,215 (GRCm39)	Y71H	probably damaging	Het
Crybg3	A	T	16: 59,380,356 (GRCm39)		probably benign	Het
Dynlt1c	T	C	17: 6,869,210 (GRCm39)	M1T	probably null	Het
Erbb2	T	C	11: 98,319,032 (GRCm39)	S574P	probably benign	Het
Exosc10	T	C	4: 148,646,849 (GRCm39)	V153A	probably benign	Het
Faxc	G	T	4: 21,931,557 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,791,243 (GRCm39)	T835A	probably damaging	Het
Fmo5	G	T	3: 97,549,076 (GRCm39)	M241I	probably benign	Het
Gabra1	A	C	11: 42,024,379 (GRCm39)	I432S	probably benign	Het
Gfap	A	G	11: 102,786,574 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12185	T	A	11: 48,806,382 (GRCm39)	M270L	probably benign	Het
Gm14443	T	C	2: 175,011,372 (GRCm39)	N358S	possibly damaging	Het
Gpr3	C	T	4: 132,938,490 (GRCm39)	V61M	probably damaging	Het
Herc2	C	T	7: 55,834,709 (GRCm39)	T3229M	probably damaging	Het
Ifit3	A	G	19: 34,565,207 (GRCm39)	Y251C	probably damaging	Het
Inf2	G	A	12: 112,567,987 (GRCm39)	V180I	probably benign	Het
Ints11	T	C	4: 155,959,665 (GRCm39)	Y91H	probably damaging	Het
Kmt2e	T	C	5: 23,704,331 (GRCm39)	S1175P	probably damaging	Het
Mki67	A	T	7: 135,315,730 (GRCm39)	V44E	probably damaging	Het
Mrgprb13	A	T	7: 47,961,940 (GRCm39)		noncoding transcript	Het
Myh2	T	C	11: 67,077,382 (GRCm39)	L839P	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or4l1	A	G	14: 50,167,007 (GRCm39)		probably benign	Het
Or6c70	A	C	10: 129,709,810 (GRCm39)	I272R	probably damaging	Het
Pced1a	T	A	2: 130,261,091 (GRCm39)	H422L	probably benign	Het
Plpp1	G	T	13: 112,988,089 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,183,056 (GRCm39)	Y949C	probably damaging	Het
Polg2	G	A	11: 106,669,796 (GRCm39)	T158I	probably damaging	Het
Prss38	A	T	11: 59,263,821 (GRCm39)	I297K	probably benign	Het
Psph	A	G	5: 129,846,431 (GRCm39)	L98P	probably damaging	Het
Rab11b	G	A	17: 33,979,243 (GRCm39)		probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Serpine3	G	A	14: 62,908,382 (GRCm39)	A137T	probably damaging	Het
Sh3bp4	T	C	1: 89,071,997 (GRCm39)	F282L	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Slco2b1	T	A	7: 99,338,198 (GRCm39)	Y109F	possibly damaging	Het
Slfn10-ps	T	A	11: 82,926,355 (GRCm39)		noncoding transcript	Het
Smc5	A	G	19: 23,237,009 (GRCm39)		probably null	Het
Smyd4	A	G	11: 75,292,984 (GRCm39)	N638S	probably benign	Het
Stxbp5	T	C	10: 9,675,735 (GRCm39)	E628G	probably damaging	Het
Tmem236	A	T	2: 14,223,975 (GRCm39)	K255*	probably null	Het
Ttc29	T	A	8: 78,978,539 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,087,222 (GRCm39)	I430T	probably damaging	Het
Uckl1	A	G	2: 181,216,160 (GRCm39)		probably null	Het
Vmn2r52	A	C	7: 9,904,672 (GRCm39)	I389R	possibly damaging	Het
Wdr62	A	T	7: 29,964,688 (GRCm39)	F352Y	possibly damaging	Het
Wdr70	T	C	15: 7,953,754 (GRCm39)	D379G	probably benign	Het
Zfp408	T	A	2: 91,476,690 (GRCm39)	M155L	probably benign	Het
Zfp459	T	A	13: 67,561,249 (GRCm39)	Q66H	probably damaging	Het
Zfp870	C	A	17: 33,102,627 (GRCm39)	G234V	probably damaging	Het

Other mutations in Ints4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Ints4	APN	7	97,184,412 (GRCm39)	missense	probably damaging	1.00
IGL01736:Ints4	APN	7	97,175,849 (GRCm39)	missense	probably benign	0.01
IGL01862:Ints4	APN	7	97,190,360 (GRCm39)	missense	probably damaging	1.00
IGL02277:Ints4	APN	7	97,136,665 (GRCm39)	missense	probably damaging	1.00
IGL02396:Ints4	APN	7	97,187,107 (GRCm39)	missense	possibly damaging	0.64
IGL02661:Ints4	APN	7	97,144,912 (GRCm39)	missense	probably benign
IGL02750:Ints4	APN	7	97,166,964 (GRCm39)	critical splice donor site	probably null
IGL03108:Ints4	APN	7	97,140,137 (GRCm39)	critical splice acceptor site	probably null
R0332:Ints4	UTSW	7	97,166,925 (GRCm39)	missense	probably damaging	1.00
R0449:Ints4	UTSW	7	97,178,430 (GRCm39)	missense	probably damaging	0.97
R1065:Ints4	UTSW	7	97,157,099 (GRCm39)	critical splice donor site	probably null
R1722:Ints4	UTSW	7	97,162,786 (GRCm39)	missense	probably benign	0.24
R2060:Ints4	UTSW	7	97,150,970 (GRCm39)	missense	possibly damaging	0.93
R2211:Ints4	UTSW	7	97,158,957 (GRCm39)	missense	possibly damaging	0.63
R3731:Ints4	UTSW	7	97,155,308 (GRCm39)	missense	probably benign	0.18
R3881:Ints4	UTSW	7	97,165,464 (GRCm39)	missense	possibly damaging	0.94
R4089:Ints4	UTSW	7	97,178,462 (GRCm39)	nonsense	probably null
R4192:Ints4	UTSW	7	97,156,940 (GRCm39)	missense	probably damaging	1.00
R4479:Ints4	UTSW	7	97,134,178 (GRCm39)	missense	probably damaging	1.00
R4980:Ints4	UTSW	7	97,151,057 (GRCm39)	critical splice donor site	probably null
R5029:Ints4	UTSW	7	97,158,981 (GRCm39)	missense	probably benign	0.06
R6160:Ints4	UTSW	7	97,158,790 (GRCm39)	splice site	probably null
R6317:Ints4	UTSW	7	97,178,425 (GRCm39)	nonsense	probably null
R6961:Ints4	UTSW	7	97,190,397 (GRCm39)	makesense	probably null
R7026:Ints4	UTSW	7	97,168,361 (GRCm39)	missense	possibly damaging	0.50
R7156:Ints4	UTSW	7	97,184,493 (GRCm39)	critical splice donor site	probably null
R7205:Ints4	UTSW	7	97,184,433 (GRCm39)	nonsense	probably null
R7234:Ints4	UTSW	7	97,179,507 (GRCm39)	missense	probably benign	0.00
R7418:Ints4	UTSW	7	97,140,179 (GRCm39)	missense	probably benign	0.03
R7423:Ints4	UTSW	7	97,156,926 (GRCm39)	missense	probably damaging	1.00
R7462:Ints4	UTSW	7	97,155,335 (GRCm39)	missense	probably benign	0.11
R7658:Ints4	UTSW	7	97,178,460 (GRCm39)	missense	possibly damaging	0.90
R7947:Ints4	UTSW	7	97,148,792 (GRCm39)	missense	probably benign
R8114:Ints4	UTSW	7	97,165,732 (GRCm39)	splice site	probably null
R8426:Ints4	UTSW	7	97,150,239 (GRCm39)	nonsense	probably null
R8765:Ints4	UTSW	7	97,151,016 (GRCm39)	missense	possibly damaging	0.70
R8777:Ints4	UTSW	7	97,134,227 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Ints4	UTSW	7	97,134,227 (GRCm39)	missense	probably damaging	1.00
R8944:Ints4	UTSW	7	97,183,593 (GRCm39)	missense	probably benign
R9001:Ints4	UTSW	7	97,190,276 (GRCm39)	missense	possibly damaging	0.51
R9057:Ints4	UTSW	7	97,158,987 (GRCm39)	missense	possibly damaging	0.90
R9315:Ints4	UTSW	7	97,156,840 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCTGTAGACTGCGAGAAGAGC -3'
(R):5'- TGATGATTTTAGGGGAGACAGCC -3'

Sequencing Primer
(F):5'- AAAACAGCCCAAGTGAGATGAAATC -3'
(R):5'- GACAGCCTCATAGGTACCTGATG -3'

Posted On

2016-07-22