Mutagenetix > Incidental Mutation

Incidental Mutation 'R7147:Ints14'

553887

Institutional Source

Beutler Lab

Gene Symbol

Ints14

Ensembl Gene

ENSMUSG00000034263

Gene Name

integrator complex subunit 14

Synonyms

2010321M09Rik, Vwa9

MMRRC Submission

045224-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R7147 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64868187-64894260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64891267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 416 (V416A)

Ref Sequence

ENSEMBL: ENSMUSP00000049284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036615] [ENSMUST00000037504] [ENSMUST00000170517]

AlphaFold

Q8R3P6

Predicted Effect

probably benign
Transcript: ENSMUST00000036615

SMART Domains

Protein: ENSMUSP00000044955
Gene: ENSMUSG00000033629

Domain	Start	End	E-Value	Type
Pfam:CS	8	84	2.3e-7	PFAM
low complexity region	119	136	N/A	INTRINSIC
transmembrane domain	153	175	N/A	INTRINSIC
Pfam:PTPLA	195	356	1.5e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037504
AA Change: V416A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049284
Gene: ENSMUSG00000034263
AA Change: V416A

Domain	Start	End	E-Value	Type
VWA	2	181	7.54e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170517
AA Change: V416A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127420
Gene: ENSMUSG00000034263
AA Change: V416A

Domain	Start	End	E-Value	Type
VWA	2	181	7.54e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	C	T	14: 56,017,182 (GRCm39)	G303D	probably damaging	Het
Adgra3	C	T	5: 50,118,587 (GRCm39)	G987D	probably damaging	Het
Akap11	A	G	14: 78,748,905 (GRCm39)	S1161P		Het
Ampd3	G	A	7: 110,404,059 (GRCm39)	E528K	probably damaging	Het
Arl8b	G	A	6: 108,791,976 (GRCm39)	R79Q	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Cald1	A	T	6: 34,723,231 (GRCm39)	Q105L		Het
Casd1	T	C	6: 4,624,187 (GRCm39)	Y327H	probably benign	Het
Chodl	T	A	16: 78,743,629 (GRCm39)	C239S	probably damaging	Het
D130043K22Rik	A	T	13: 25,066,546 (GRCm39)	H781L	probably benign	Het
Dlg1	A	T	16: 31,610,672 (GRCm39)	M318L	probably benign	Het
Dlgap1	T	C	17: 70,969,753 (GRCm39)	S520P	probably benign	Het
Dmxl2	T	C	9: 54,324,013 (GRCm39)	I950V	probably benign	Het
Dnah17	T	A	11: 117,985,755 (GRCm39)	T1441S	probably benign	Het
Dock7	A	T	4: 98,849,654 (GRCm39)	N1638K	unknown	Het
Ect2	A	T	3: 27,204,239 (GRCm39)	D23E	probably benign	Het
Ephx1	T	A	1: 180,829,384 (GRCm39)	T55S	probably damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fbxw27	A	G	9: 109,618,391 (GRCm39)		probably null	Het
Fhl5	T	A	4: 25,213,777 (GRCm39)		probably null	Het
Gm5145	G	A	17: 20,791,323 (GRCm39)	E234K	probably damaging	Het
Gpr39	G	A	1: 125,800,238 (GRCm39)	D330N	possibly damaging	Het
Greb1	C	T	12: 16,783,428 (GRCm39)	R102H	probably damaging	Het
H4c17	A	G	13: 21,996,159 (GRCm39)	D69G	probably damaging	Het
Ighmbp2	T	C	19: 3,321,676 (GRCm39)	K361R	probably benign	Het
Inpp4b	A	G	8: 82,629,400 (GRCm39)	D245G	probably damaging	Het
Kif21a	A	G	15: 90,865,086 (GRCm39)	S529P	probably benign	Het
Limk1	A	G	5: 134,686,195 (GRCm39)	M609T	probably benign	Het
Lrrc75a	G	A	11: 62,496,795 (GRCm39)	P256S	probably damaging	Het
Mcc	T	C	18: 44,626,580 (GRCm39)	R339G	probably damaging	Het
Mdga1	C	T	17: 30,065,495 (GRCm39)	W371*	probably null	Het
Mei4	T	A	9: 81,809,649 (GRCm39)	L244Q	probably damaging	Het
Mical2	C	T	7: 111,922,810 (GRCm39)	P605L	possibly damaging	Het
Mrgprf	G	T	7: 144,862,128 (GRCm39)	R230L	possibly damaging	Het
Nlgn1	T	A	3: 26,187,509 (GRCm39)	R125S	probably benign	Het
Or52h7	A	G	7: 104,213,273 (GRCm39)		probably benign	Het
Papola	A	T	12: 105,774,897 (GRCm39)		probably benign	Het
Pold2	T	C	11: 5,823,095 (GRCm39)	D360G	probably benign	Het
Prr12	T	C	7: 44,683,274 (GRCm39)	R1797G	unknown	Het
Psmg2	C	T	18: 67,786,338 (GRCm39)	P233S	probably benign	Het
Ptprh	A	G	7: 4,553,781 (GRCm39)	W857R	probably damaging	Het
Raet1e	A	T	10: 22,057,179 (GRCm39)	M168L	probably benign	Het
Rhbdl2	A	T	4: 123,703,908 (GRCm39)	Y61F	probably damaging	Het
Sacm1l	A	G	9: 123,398,016 (GRCm39)	N236S	probably damaging	Het
Sbf2	A	T	7: 110,046,268 (GRCm39)	S310T	probably benign	Het
Sdr42e2	A	T	7: 120,412,238 (GRCm39)	R33S	probably damaging	Het
Sh3d19	T	A	3: 86,011,584 (GRCm39)	I390N	possibly damaging	Het
Slco3a1	A	G	7: 74,154,042 (GRCm39)	Y177H	probably damaging	Het
Smo	G	A	6: 29,758,448 (GRCm39)	G531D	possibly damaging	Het
Snx25	A	C	8: 46,558,233 (GRCm39)	V258G	probably damaging	Het
Spata31d1b	T	A	13: 59,866,028 (GRCm39)	S1059T	probably benign	Het
Srgap2	C	T	1: 131,238,332 (GRCm39)	C274Y		Het
Srrm1	A	G	4: 135,074,137 (GRCm39)	I48T	probably damaging	Het
Syne1	A	T	10: 5,199,340 (GRCm39)	V3719E	probably damaging	Het
Tcerg1	T	A	18: 42,683,128 (GRCm39)	M616K	probably benign	Het
Tgtp2	G	C	11: 48,950,135 (GRCm39)	R146G	probably damaging	Het
Tie1	A	T	4: 118,341,610 (GRCm39)	V234D	probably damaging	Het
Tom1	A	G	8: 75,783,895 (GRCm39)	N293S	probably damaging	Het
Trim13	A	T	14: 61,842,080 (GRCm39)	K32N	probably damaging	Het
Trim6	G	A	7: 103,874,777 (GRCm39)	V5I	probably benign	Het
Vps11	A	T	9: 44,266,379 (GRCm39)	L436*	probably null	Het
Vps50	C	T	6: 3,567,750 (GRCm39)	Q549*	probably null	Het
Vtcn1	T	A	3: 100,791,210 (GRCm39)	F83I	probably damaging	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	probably benign	Het
Zfp758	A	T	17: 22,594,981 (GRCm39)	Y489F	possibly damaging	Het
Zfp804a	T	C	2: 82,088,531 (GRCm39)	Y787H	probably benign	Het
Zfp9	C	T	6: 118,441,963 (GRCm39)	C233Y	probably damaging	Het

Other mutations in Ints14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Ints14	APN	9	64,880,074 (GRCm39)	missense	probably benign	0.30
R0376:Ints14	UTSW	9	64,891,272 (GRCm39)	missense	probably damaging	0.98
R0589:Ints14	UTSW	9	64,887,113 (GRCm39)	missense	probably damaging	1.00
R0614:Ints14	UTSW	9	64,871,715 (GRCm39)	missense	probably benign
R0708:Ints14	UTSW	9	64,891,266 (GRCm39)	missense	probably benign	0.29
R1192:Ints14	UTSW	9	64,874,045 (GRCm39)	missense	possibly damaging	0.86
R2114:Ints14	UTSW	9	64,887,077 (GRCm39)	missense	probably damaging	1.00
R2115:Ints14	UTSW	9	64,887,077 (GRCm39)	missense	probably damaging	1.00
R2117:Ints14	UTSW	9	64,887,077 (GRCm39)	missense	probably damaging	1.00
R2484:Ints14	UTSW	9	64,893,366 (GRCm39)	missense	probably benign
R4811:Ints14	UTSW	9	64,871,800 (GRCm39)	missense	probably damaging	1.00
R4953:Ints14	UTSW	9	64,889,340 (GRCm39)	missense	probably damaging	1.00
R5067:Ints14	UTSW	9	64,871,694 (GRCm39)	missense	probably damaging	1.00
R6080:Ints14	UTSW	9	64,874,044 (GRCm39)	missense	probably benign	0.02
R6326:Ints14	UTSW	9	64,871,719 (GRCm39)	missense	probably benign	0.08
R6395:Ints14	UTSW	9	64,885,406 (GRCm39)	splice site	probably null
R7036:Ints14	UTSW	9	64,871,827 (GRCm39)	missense	probably benign
R7203:Ints14	UTSW	9	64,871,701 (GRCm39)	missense	probably damaging	1.00
R8171:Ints14	UTSW	9	64,880,532 (GRCm39)	missense	possibly damaging	0.90
R9390:Ints14	UTSW	9	64,891,314 (GRCm39)	missense	probably benign	0.08
R9561:Ints14	UTSW	9	64,882,932 (GRCm39)	missense	probably damaging	1.00
R9700:Ints14	UTSW	9	64,880,007 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTCTAAGAGGGCAGTGCTGTAG -3'
(R):5'- GTGTCATTTAGGCTGGATTCAAC -3'

Sequencing Primer
(F):5'- CTGTAGCCATTGTTGAGAAAAGCAC -3'
(R):5'- CATTTAGGCTGGATTCAACTGGATTG -3'

Posted On

2019-05-15