Mutagenetix > Incidental Mutation

Incidental Mutation 'R7957:Ints13'

649884

Institutional Source

Beutler Lab

Gene Symbol

Ints13

Ensembl Gene

ENSMUSG00000040250

Gene Name

integrator complex subunit 13

Synonyms

4933424B01Rik, Asun, Spata30

MMRRC Submission

046001-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R7957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146451130-146479333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146452264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 652 (S652P)

Ref Sequence

ENSEMBL: ENSMUSP00000032427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032427] [ENSMUST00000203545]

AlphaFold

Q8QZV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000032427
AA Change: S652P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032427
Gene: ENSMUSG00000040250
AA Change: S652P

Domain	Start	End	E-Value	Type
Pfam:DUF2151	4	692	8.2e-292	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131662

SMART Domains

Protein: ENSMUSP00000118000
Gene: ENSMUSG00000040250

Domain	Start	End	E-Value	Type
Pfam:DUF2151	1	394	7.2e-171	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122279
Gene: ENSMUSG00000040250
AA Change: S175P

Domain	Start	End	E-Value	Type
Pfam:DUF2151	2	216	1.6e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203545
AA Change: S273P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145229
Gene: ENSMUSG00000040250
AA Change: S273P

Domain	Start	End	E-Value	Type
Pfam:DUF2151	1	96	3.8e-48	PFAM
Pfam:DUF2151	94	313	6e-59	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,982,439 (GRCm39)	M1T	probably null	Het
Abhd2	T	A	7: 78,975,194 (GRCm39)	M128K	probably benign	Het
Adamts12	A	G	15: 11,317,298 (GRCm39)	T1333A	possibly damaging	Het
Alg8	A	G	7: 97,040,131 (GRCm39)	T438A	probably benign	Het
Ccn3	G	T	15: 54,609,734 (GRCm39)	S78I	possibly damaging	Het
Cebpa	A	G	7: 34,819,867 (GRCm39)	I342V	possibly damaging	Het
Chd9	T	C	8: 91,778,326 (GRCm39)	M2779T	probably damaging	Het
Cnot3	C	A	7: 3,661,221 (GRCm39)	P577T	probably benign	Het
Col17a1	T	C	19: 47,649,556 (GRCm39)	D755G	probably damaging	Het
Col5a3	A	G	9: 20,685,347 (GRCm39)	V1443A	unknown	Het
Crygs	C	T	16: 22,624,082 (GRCm39)	R175H	probably damaging	Het
Fam193a	A	G	5: 34,619,430 (GRCm39)	D1031G	probably damaging	Het
Fam83b	T	A	9: 76,399,267 (GRCm39)	H612L	probably benign	Het
Gabrr2	A	G	4: 33,081,410 (GRCm39)	T149A	probably damaging	Het
Gm3667	T	C	14: 18,269,663 (GRCm39)	N156D	probably benign	Het
Hpcal1	T	A	12: 17,841,171 (GRCm39)	L183Q	probably damaging	Het
Ilf2	G	T	3: 90,394,777 (GRCm39)	E342*	probably null	Het
Kansl2	C	A	15: 98,422,499 (GRCm39)	E356D	probably benign	Het
Klhl6	T	C	16: 19,768,201 (GRCm39)	E448G	probably null	Het
Mmp14	A	G	14: 54,673,707 (GRCm39)	I124V	probably benign	Het
Morc2b	A	T	17: 33,354,747 (GRCm39)	D1008E	probably benign	Het
Muc16	A	C	9: 18,554,767 (GRCm39)	V3842G	unknown	Het
Myo9b	A	T	8: 71,807,405 (GRCm39)	I1614F	probably benign	Het
Nipa1	A	T	7: 55,629,547 (GRCm39)	C189S	probably damaging	Het
Ntn4	T	C	10: 93,480,335 (GRCm39)		probably benign	Het
Or12k5	A	G	2: 36,894,972 (GRCm39)	I218T	probably benign	Het
Or2t29	A	G	11: 58,433,624 (GRCm39)	L239P	probably damaging	Het
Or3a4	A	C	11: 73,944,982 (GRCm39)	L201R	probably damaging	Het
Or4x13	A	T	2: 90,231,395 (GRCm39)	Y130F	probably damaging	Het
Or8g17	T	G	9: 38,930,349 (GRCm39)	I163L	probably benign	Het
Pank1	T	A	19: 34,791,096 (GRCm39)	H528L	probably damaging	Het
Pappa2	A	T	1: 158,589,131 (GRCm39)	L1698*	probably null	Het
Park7	A	G	4: 150,988,341 (GRCm39)	S85P	probably damaging	Het
Pik3r4	A	G	9: 105,564,408 (GRCm39)	D1334G	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rapgef2	T	C	3: 79,122,276 (GRCm39)	E30G	probably benign	Het
Rhbdf1	A	G	11: 32,160,523 (GRCm39)	F676L	probably damaging	Het
Rsf1	GGC	GGCCACGGCAGC	7: 97,229,113 (GRCm39)		probably benign	Het
Scd4	G	T	19: 44,329,687 (GRCm39)	M219I	probably benign	Het
Slfn5	T	A	11: 82,847,613 (GRCm39)	I166N	probably benign	Het
Smim22	A	T	16: 4,826,089 (GRCm39)	D85V	probably damaging	Het
Socs2	T	C	10: 95,250,812 (GRCm39)	E7G	probably benign	Het
Thumpd2	T	C	17: 81,334,157 (GRCm39)	E477G	probably benign	Het
Tlr12	C	T	4: 128,510,483 (GRCm39)	G589D	probably benign	Het
Ttn	A	T	2: 76,595,199 (GRCm39)	I20317K	probably damaging	Het
Ttyh2	A	G	11: 114,599,690 (GRCm39)		probably null	Het
Ugt2a3	T	A	5: 87,475,050 (GRCm39)	D398V	probably damaging	Het
Vmn2r88	A	T	14: 51,650,589 (GRCm39)	M101L		Het
Vmn2r93	A	T	17: 18,545,954 (GRCm39)	R609*	probably null	Het
Zfp473	C	T	7: 44,381,916 (GRCm39)	E806K	probably damaging	Het
Zfp93	T	C	7: 23,974,999 (GRCm39)	L328P	probably damaging	Het

Other mutations in Ints13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Ints13	APN	6	146,467,174 (GRCm39)	missense	probably damaging	1.00
IGL02085:Ints13	APN	6	146,451,437 (GRCm39)	utr 3 prime	probably benign
IGL02439:Ints13	APN	6	146,455,721 (GRCm39)	splice site	probably benign
IGL02512:Ints13	APN	6	146,477,855 (GRCm39)	missense	probably damaging	1.00
IGL02523:Ints13	APN	6	146,459,109 (GRCm39)	missense	probably benign	0.09
IGL02988:Ints13	APN	6	146,457,646 (GRCm39)	missense	possibly damaging	0.49
R0083:Ints13	UTSW	6	146,452,162 (GRCm39)	missense	probably benign	0.06
R0085:Ints13	UTSW	6	146,476,285 (GRCm39)	splice site	probably benign
R0184:Ints13	UTSW	6	146,456,542 (GRCm39)	missense	probably benign	0.26
R0656:Ints13	UTSW	6	146,453,959 (GRCm39)	missense	probably benign	0.19
R1808:Ints13	UTSW	6	146,455,695 (GRCm39)	missense	probably damaging	1.00
R1838:Ints13	UTSW	6	146,468,109 (GRCm39)	missense	possibly damaging	0.92
R1906:Ints13	UTSW	6	146,453,868 (GRCm39)	critical splice donor site	probably null
R2140:Ints13	UTSW	6	146,477,929 (GRCm39)	missense	probably damaging	1.00
R3082:Ints13	UTSW	6	146,476,205 (GRCm39)	missense	possibly damaging	0.92
R5568:Ints13	UTSW	6	146,477,855 (GRCm39)	missense	probably damaging	1.00
R5757:Ints13	UTSW	6	146,451,604 (GRCm39)	missense	probably benign	0.01
R5770:Ints13	UTSW	6	146,456,571 (GRCm39)	missense	probably damaging	0.98
R5809:Ints13	UTSW	6	146,477,847 (GRCm39)	missense	probably benign	0.06
R6273:Ints13	UTSW	6	146,467,179 (GRCm39)	missense	probably damaging	1.00
R6882:Ints13	UTSW	6	146,464,939 (GRCm39)	missense	probably null	0.18
R6908:Ints13	UTSW	6	146,456,531 (GRCm39)	missense	probably damaging	0.99
R7089:Ints13	UTSW	6	146,476,216 (GRCm39)	missense	probably damaging	1.00
R7425:Ints13	UTSW	6	146,476,198 (GRCm39)	critical splice donor site	probably null
R7660:Ints13	UTSW	6	146,458,836 (GRCm39)	missense	probably benign	0.24
R8529:Ints13	UTSW	6	146,464,926 (GRCm39)	missense	probably damaging	0.98
R8847:Ints13	UTSW	6	146,457,631 (GRCm39)	missense	probably benign	0.01
R9368:Ints13	UTSW	6	146,467,129 (GRCm39)	missense	probably null	0.99
R9703:Ints13	UTSW	6	146,459,063 (GRCm39)	missense	probably damaging	1.00
R9777:Ints13	UTSW	6	146,463,326 (GRCm39)	missense	probably damaging	0.99
RF011:Ints13	UTSW	6	146,457,738 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAAGCAGTTTCATTACAGGAC -3'
(R):5'- GTCTACCTACACTGCCTTTAAGG -3'

Sequencing Primer
(F):5'- GCAGTTTCATTACAGGACTACAC -3'
(R):5'- CCTTTAAGGCTGTTTTTCCTAAGTG -3'

Posted On

2020-09-15