Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02149:B430306N03Rik'

281884

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B430306N03Rik

Ensembl Gene

ENSMUSG00000043740

Gene Name

RIKEN cDNA B430306N03 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02149

Quality Score

Status

Chromosome

Chromosomal Location

48622310-48632580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48624020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 107 (V107A)

Ref Sequence

ENSEMBL: ENSMUSP00000054890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049614] [ENSMUST00000125174] [ENSMUST00000129825] [ENSMUST00000170941]

AlphaFold

Q6QX36

Predicted Effect

probably benign
Transcript: ENSMUST00000049614
AA Change: V107A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054890
Gene: ENSMUSG00000043740
AA Change: V107A

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	26	122	2.96e-6	SMART
transmembrane domain	155	177	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124205

Predicted Effect

probably benign
Transcript: ENSMUST00000125174
AA Change: V107A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120251
Gene: ENSMUSG00000043740
AA Change: V107A

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	26	122	2.96e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129825
AA Change: V107A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000122378
Gene: ENSMUSG00000043740
AA Change: V107A

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	26	122	2.96e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170941

SMART Domains

Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	129	3.13e-5	SMART
low complexity region	181	199	N/A	INTRINSIC
transmembrane domain	268	290	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	T	9: 70,610,713 (GRCm39)	H67L	probably damaging	Het
Adgrb1	C	T	15: 74,412,326 (GRCm39)	T435I	probably damaging	Het
Adgrd1	T	A	5: 129,256,325 (GRCm39)	F652Y	probably damaging	Het
Adgrl4	T	A	3: 151,205,991 (GRCm39)	F250Y	possibly damaging	Het
Aebp2	C	T	6: 140,588,010 (GRCm39)	A360V	probably benign	Het
AW551984	A	C	9: 39,504,220 (GRCm39)	M582R	probably benign	Het
Cage1	T	C	13: 38,206,505 (GRCm39)	N447D	probably damaging	Het
Col17a1	T	C	19: 47,657,071 (GRCm39)	D524G	probably benign	Het
Dpp6	A	T	5: 27,743,022 (GRCm39)	I218F	probably benign	Het
Ep300	T	G	15: 81,512,621 (GRCm39)		probably benign	Het
Ephb2	C	T	4: 136,421,225 (GRCm39)	C375Y	probably damaging	Het
Fastk	A	G	5: 24,649,051 (GRCm39)	V112A	probably damaging	Het
Fbxo11	T	A	17: 88,301,187 (GRCm39)	R775S	possibly damaging	Het
Fbxw20	A	G	9: 109,062,886 (GRCm39)		probably null	Het
Hamp2	G	T	7: 30,622,122 (GRCm39)	A50E	probably damaging	Het
Il22b	C	A	10: 118,130,902 (GRCm39)		probably benign	Het
Ints1	G	A	5: 139,737,715 (GRCm39)	R2139C	probably damaging	Het
Itgae	T	A	11: 72,994,720 (GRCm39)	V24E	probably benign	Het
Jakmip3	G	A	7: 138,609,075 (GRCm39)	V60M	possibly damaging	Het
Kcnk10	A	C	12: 98,485,099 (GRCm39)		probably benign	Het
Klra1	A	T	6: 130,352,293 (GRCm39)	C150S	probably damaging	Het
Lhx9	A	T	1: 138,759,172 (GRCm39)	V376E	probably damaging	Het
Mdm1	T	A	10: 117,983,970 (GRCm39)	F199I	probably damaging	Het
Nipal3	G	T	4: 135,194,163 (GRCm39)	T290K	possibly damaging	Het
Obsl1	C	T	1: 75,480,464 (GRCm39)	E387K	probably damaging	Het
Or8b43	A	G	9: 38,360,693 (GRCm39)	H175R	probably damaging	Het
Oxct1	A	G	15: 4,120,711 (GRCm39)	Y265C	probably damaging	Het
Pccb	G	A	9: 100,867,243 (GRCm39)	H411Y	probably damaging	Het
Pkp1	A	G	1: 135,814,485 (GRCm39)	S279P	probably benign	Het
Prdm14	C	A	1: 13,195,663 (GRCm39)	G133C	probably benign	Het
Prkaa2	A	T	4: 104,897,285 (GRCm39)	N309K	probably benign	Het
Shc2	T	C	10: 79,458,102 (GRCm39)	D527G	probably damaging	Het
Shkbp1	C	T	7: 27,042,064 (GRCm39)		probably benign	Het
Skil	T	C	3: 31,151,856 (GRCm39)	V126A	possibly damaging	Het
Slc25a36	A	T	9: 96,975,122 (GRCm39)		probably benign	Het
Slc2a13	T	C	15: 91,227,924 (GRCm39)	T423A	probably benign	Het
Spty2d1	A	G	7: 46,657,892 (GRCm39)		probably benign	Het
Stag1	A	G	9: 100,769,442 (GRCm39)	D519G	probably benign	Het
Tmprss2	G	T	16: 97,400,479 (GRCm39)		probably benign	Het
Trim66	G	T	7: 109,060,109 (GRCm39)	T759K	possibly damaging	Het
Trpc4ap	C	A	2: 155,481,467 (GRCm39)	A530S	probably damaging	Het
Ttn	A	T	2: 76,642,099 (GRCm39)	D11625E	probably damaging	Het
Ube4b	T	C	4: 149,483,141 (GRCm39)	I42M	possibly damaging	Het
Ubxn10	A	G	4: 138,448,584 (GRCm39)	S31P	probably benign	Het
Ubxn7	A	G	16: 32,194,088 (GRCm39)	Y220C	probably damaging	Het
Vmn1r234	A	G	17: 21,449,269 (GRCm39)	Y61C	probably benign	Het

Other mutations in B430306N03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:B430306N03Rik	APN	17	48,628,101 (GRCm39)	missense	probably damaging	1.00
IGL02221:B430306N03Rik	APN	17	48,631,223 (GRCm39)	utr 3 prime	probably benign
IGL03112:B430306N03Rik	APN	17	48,623,834 (GRCm39)	missense	probably benign	0.06
IGL03223:B430306N03Rik	APN	17	48,623,896 (GRCm39)	missense	probably damaging	1.00
1mM(1):B430306N03Rik	UTSW	17	48,629,431 (GRCm39)	splice site	probably benign
R1917:B430306N03Rik	UTSW	17	48,631,176 (GRCm39)	missense	probably benign	0.44
R2086:B430306N03Rik	UTSW	17	48,623,810 (GRCm39)	missense	probably damaging	1.00
R3052:B430306N03Rik	UTSW	17	48,623,938 (GRCm39)	missense	probably damaging	0.98
R3695:B430306N03Rik	UTSW	17	48,626,194 (GRCm39)	missense	possibly damaging	0.86
R6319:B430306N03Rik	UTSW	17	48,623,771 (GRCm39)	missense	probably damaging	1.00
R6453:B430306N03Rik	UTSW	17	48,623,764 (GRCm39)	missense	probably damaging	0.97
R6523:B430306N03Rik	UTSW	17	48,626,193 (GRCm39)	missense	possibly damaging	0.53
R7140:B430306N03Rik	UTSW	17	48,629,483 (GRCm39)	nonsense	probably null
R7905:B430306N03Rik	UTSW	17	48,623,988 (GRCm39)	missense	probably benign	0.10
R7973:B430306N03Rik	UTSW	17	48,623,483 (GRCm39)	missense	probably benign	0.09
R8907:B430306N03Rik	UTSW	17	48,628,100 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16