Mutagenetix > Incidental Mutation

Incidental Mutation 'R5667:Ivns1abp'

444458

Institutional Source

Beutler Lab

Gene Symbol

Ivns1abp

Ensembl Gene

ENSMUSG00000023150

Gene Name

influenza virus NS1A binding protein

Synonyms

1190004M08Rik, 1700126I16Rik, Nd1-L, HSPC068, NS1-BP, ND1, Nd1-S, NS-1

MMRRC Submission

043310-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.405) question?

Stock #

R5667 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151220228-151240173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 151229760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 149 (L149F)

Ref Sequence

ENSEMBL: ENSMUSP00000140708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023918] [ENSMUST00000097543] [ENSMUST00000111887] [ENSMUST00000186745]

AlphaFold

Q920Q8

Predicted Effect

probably benign
Transcript: ENSMUST00000023918
AA Change: L149F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000023918
Gene: ENSMUSG00000023150
AA Change: L149F

Domain	Start	End	E-Value	Type
BTB	32	129	1.89e-25	SMART
BACK	134	233	3.39e-8	SMART
low complexity region	325	338	N/A	INTRINSIC
Kelch	369	415	4.78e-15	SMART
Kelch	416	463	2.16e-13	SMART
Kelch	464	512	2.15e-8	SMART
Kelch	513	559	1.58e-15	SMART
Kelch	560	606	1.61e-12	SMART
Kelch	607	641	1.85e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097543
AA Change: L149F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000095150
Gene: ENSMUSG00000023150
AA Change: L149F

Domain	Start	End	E-Value	Type
BTB	32	129	1.89e-25	SMART
Pfam:BACK	134	189	3.3e-8	PFAM
low complexity region	283	296	N/A	INTRINSIC
Kelch	327	373	4.78e-15	SMART
Kelch	374	421	2.16e-13	SMART
Kelch	422	470	2.15e-8	SMART
Kelch	471	517	1.58e-15	SMART
Kelch	518	564	1.61e-12	SMART
Kelch	565	599	1.85e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111887
AA Change: L149F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000107518
Gene: ENSMUSG00000023150
AA Change: L149F

Domain	Start	End	E-Value	Type
BTB	32	129	1.89e-25	SMART
BACK	134	219	7.04e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186745
AA Change: L149F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000140708
Gene: ENSMUSG00000023150
AA Change: L149F

Domain	Start	End	E-Value	Type
BTB	32	129	1.89e-25	SMART
BACK	134	219	7.04e-6	SMART

Meta Mutation Damage Score

0.5199

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

96% (54/56)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit some early lethality, increased cellular sensitivity to cytochalasin and doxorubicin, and doxorubicin-induced cardiotoxicity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adamts16	A	T	13: 70,984,494 (GRCm39)	Y56*	probably null	Het
Ak2	T	A	4: 128,902,040 (GRCm39)	F238I	probably damaging	Het
Akap8l	T	C	17: 32,557,266 (GRCm39)	Y115C	probably damaging	Het
Alms1	A	G	6: 85,673,753 (GRCm39)	D3116G	probably damaging	Het
Arhgap24	T	G	5: 102,994,037 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,861,310 (GRCm39)	E491G	probably damaging	Het
Atp8b1	C	T	18: 64,714,994 (GRCm39)	C86Y	probably damaging	Het
Atxn1	T	C	13: 45,710,853 (GRCm39)	K693R	probably benign	Het
Bltp1	A	T	3: 36,971,826 (GRCm39)	T520S	probably benign	Het
Btbd10	T	C	7: 112,931,931 (GRCm39)	K165R	probably damaging	Het
Capn11	C	T	17: 45,950,600 (GRCm39)	R293Q	possibly damaging	Het
Chordc1	T	G	9: 18,206,628 (GRCm39)	F33V	probably damaging	Het
Clca4b	G	A	3: 144,627,624 (GRCm39)	T449I	probably benign	Het
Clip4	A	C	17: 72,096,878 (GRCm39)	M1L	probably damaging	Het
Cyfip1	C	T	7: 55,523,478 (GRCm39)	T90I	probably benign	Het
Cyp4v3	G	T	8: 45,761,572 (GRCm39)	T417K	possibly damaging	Het
Exoc3l4	T	C	12: 111,389,851 (GRCm39)	I142T	probably damaging	Het
Flnb	T	A	14: 7,890,843 (GRCm38)	I575N	probably benign	Het
Foxa1	A	T	12: 57,589,081 (GRCm39)	S380T	probably benign	Het
Foxi2	A	T	7: 135,012,668 (GRCm39)		probably null	Het
Gad1-ps	A	T	10: 99,280,395 (GRCm39)		noncoding transcript	Het
Gpa33	A	G	1: 165,974,360 (GRCm39)	T66A	possibly damaging	Het
Gpr45	A	G	1: 43,072,218 (GRCm39)	Y287C	probably damaging	Het
H2-Eb1	C	A	17: 34,533,229 (GRCm39)	Y150*	probably null	Het
Hsd17b8	T	C	17: 34,245,435 (GRCm39)	D233G	probably null	Het
Ifna6	A	T	4: 88,745,906 (GRCm39)	Q85L	probably damaging	Het
Kank4	A	G	4: 98,653,698 (GRCm39)		probably null	Het
Katnip	T	A	7: 125,442,627 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,066,540 (GRCm39)	C1114S	probably damaging	Het
Lmbr1l	A	C	15: 98,805,489 (GRCm39)	D337E	possibly damaging	Het
Lrrn3	A	C	12: 41,502,297 (GRCm39)	S673R	possibly damaging	Het
Ly75	T	C	2: 60,138,655 (GRCm39)	D1404G	probably damaging	Het
Muc4	A	G	16: 32,575,011 (GRCm39)	T1199A	probably benign	Het
Mycn	A	T	12: 12,990,045 (GRCm39)	M117K	possibly damaging	Het
Nalcn	A	G	14: 123,532,818 (GRCm39)	I1314T	probably damaging	Het
Nod1	T	C	6: 54,910,561 (GRCm39)	T869A	probably benign	Het
Or2y16	T	C	11: 49,335,140 (GRCm39)	V154A	probably benign	Het
Or4k39	C	T	2: 111,238,818 (GRCm39)		noncoding transcript	Het
Plekhg2	A	T	7: 28,067,064 (GRCm39)	I356N	probably damaging	Het
Ptpru	T	A	4: 131,547,501 (GRCm39)	Y112F	possibly damaging	Het
Rpl36al	G	A	12: 69,229,897 (GRCm39)	P5L	possibly damaging	Het
Ryr2	A	G	13: 11,774,722 (GRCm39)	W1145R	probably damaging	Het
Semp2l2b	T	A	10: 21,942,742 (GRCm39)	T413S	possibly damaging	Het
Slc11a2	A	G	15: 100,301,169 (GRCm39)	Y295H	probably damaging	Het
Slc22a6	A	G	19: 8,599,148 (GRCm39)		probably null	Het
Styxl1	A	G	5: 135,785,977 (GRCm39)		probably null	Het
Tmc6	A	G	11: 117,666,441 (GRCm39)	S288P	possibly damaging	Het
Trpv4	A	G	5: 114,772,617 (GRCm39)	L371P	probably damaging	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Usp8	A	G	2: 126,584,345 (GRCm39)	D518G	probably benign	Het
Washc4	T	C	10: 83,405,892 (GRCm39)	S463P	probably damaging	Het

Other mutations in Ivns1abp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Ivns1abp	APN	1	151,226,863 (GRCm39)	splice site	probably null
IGL01616:Ivns1abp	APN	1	151,237,294 (GRCm39)	missense	possibly damaging	0.69
IGL02061:Ivns1abp	APN	1	151,227,324 (GRCm39)	missense	probably damaging	0.97
IGL02630:Ivns1abp	APN	1	151,235,386 (GRCm39)	missense	probably damaging	1.00
H8562:Ivns1abp	UTSW	1	151,230,446 (GRCm39)	missense	probably damaging	0.98
PIT1430001:Ivns1abp	UTSW	1	151,237,356 (GRCm39)	missense	probably damaging	1.00
R0107:Ivns1abp	UTSW	1	151,237,321 (GRCm39)	missense	probably damaging	0.99
R0609:Ivns1abp	UTSW	1	151,235,896 (GRCm39)	missense	probably benign	0.02
R1104:Ivns1abp	UTSW	1	151,235,860 (GRCm39)	missense	probably benign	0.42
R1463:Ivns1abp	UTSW	1	151,237,291 (GRCm39)	missense	probably benign	0.05
R1512:Ivns1abp	UTSW	1	151,236,688 (GRCm39)	missense	probably benign	0.02
R1512:Ivns1abp	UTSW	1	151,236,687 (GRCm39)	missense	possibly damaging	0.87
R1521:Ivns1abp	UTSW	1	151,227,309 (GRCm39)	missense	probably damaging	1.00
R1550:Ivns1abp	UTSW	1	151,237,242 (GRCm39)	missense	probably damaging	1.00
R2047:Ivns1abp	UTSW	1	151,227,382 (GRCm39)	missense	possibly damaging	0.83
R2435:Ivns1abp	UTSW	1	151,239,061 (GRCm39)	missense	probably benign	0.04
R4471:Ivns1abp	UTSW	1	151,236,990 (GRCm39)	missense	probably benign	0.29
R5011:Ivns1abp	UTSW	1	151,238,953 (GRCm39)	missense	possibly damaging	0.76
R5671:Ivns1abp	UTSW	1	151,229,760 (GRCm39)	missense	probably benign	0.01
R6505:Ivns1abp	UTSW	1	151,236,744 (GRCm39)	missense	probably benign	0.00
R8357:Ivns1abp	UTSW	1	151,229,761 (GRCm39)	missense	probably damaging	1.00
R8457:Ivns1abp	UTSW	1	151,229,761 (GRCm39)	missense	probably damaging	1.00
Z1176:Ivns1abp	UTSW	1	151,226,784 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCACCATTTGTCCATGTGC -3'
(R):5'- AGCACTACTGCAACCCTGATTC -3'

Sequencing Primer
(F):5'- CATGTGCTGTCCCCATTGTGTAG -3'
(R):5'- TGATTCACCTGGTAAAGACTGCC -3'

Posted On

2016-11-09