Mutagenetix > Incidental Mutation

Incidental Mutation 'R6319:B430306N03Rik'

509362

Institutional Source

Beutler Lab

Gene Symbol

B430306N03Rik

Ensembl Gene

ENSMUSG00000043740

Gene Name

RIKEN cDNA B430306N03 gene

Synonyms

MMRRC Submission

044474-MU

Accession Numbers

Essential gene?

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

Stock #

R6319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48622310-48632580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48623771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 24 (Q24L)

Ref Sequence

ENSEMBL: ENSMUSP00000122378 (fasta)

Gene Model

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

AlphaFold

Q6QX36

Predicted Effect

probably damaging
Transcript: ENSMUST00000049614
AA Change: Q24L

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

SMART Domains

Protein: ENSMUSP00000054890
Gene: ENSMUSG00000043740
AA Change: Q24L

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 damaging
Transcript: ENSMUST00000125174
AA Change: Q24L

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

SMART Domains

Protein: ENSMUSP00000120251
Gene: ENSMUSG00000043740
AA Change: Q24L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129825
AA Change: Q24L

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

SMART Domains

Protein: ENSMUSP00000122378
Gene: ENSMUSG00000043740
AA Change: Q24L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,651,723 (GRCm39)	S372P	probably benign	Het
Adam34	A	G	8: 44,104,952 (GRCm39)	I231T	probably benign	Het
Adgrg6	T	A	10: 14,307,366 (GRCm39)	H840L	probably damaging	Het
Akap11	T	C	14: 78,750,978 (GRCm39)	T470A	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Bmp6	A	T	13: 38,530,390 (GRCm39)	H161L	probably benign	Het
Cdca8	C	A	4: 124,815,087 (GRCm39)	D177Y	possibly damaging	Het
Col14a1	A	G	15: 55,379,565 (GRCm39)	T1693A	probably damaging	Het
Cpsf1	A	G	15: 76,481,167 (GRCm39)	S1230P	probably damaging	Het
Dcaf13	A	G	15: 39,007,067 (GRCm39)	T334A	probably benign	Het
Dhx32	A	C	7: 133,338,955 (GRCm39)	V360G	probably damaging	Het
Dmxl1	A	G	18: 49,985,367 (GRCm39)	T205A	probably benign	Het
Dxo	A	G	17: 35,057,367 (GRCm39)	E253G	probably damaging	Het
Enpp1	T	C	10: 24,523,929 (GRCm39)	Y747C	probably damaging	Het
Gga2	T	C	7: 121,601,389 (GRCm39)	E238G	possibly damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Grik4	A	T	9: 42,477,632 (GRCm39)	M518K	probably damaging	Het
Igf2r	T	A	17: 12,933,000 (GRCm39)	S841C	probably damaging	Het
Itfg1	G	T	8: 86,567,258 (GRCm39)	T37K	probably damaging	Het
Kcnn4	T	A	7: 24,081,165 (GRCm39)	M301K	possibly damaging	Het
Kel	C	A	6: 41,679,381 (GRCm39)	E127D	probably benign	Het
Lrp4	A	G	2: 91,310,666 (GRCm39)	Y569C	probably damaging	Het
Lrp6	A	T	6: 134,518,798 (GRCm39)	V89D	possibly damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Mnd1	A	G	3: 84,049,071 (GRCm39)	S2P	possibly damaging	Het
Neb	T	A	2: 52,053,023 (GRCm39)		probably null	Het
Or51af1	T	C	7: 103,141,932 (GRCm39)	E51G	possibly damaging	Het
Or5h23	A	G	16: 58,906,384 (GRCm39)	I154T	probably benign	Het
Or8g17	A	G	9: 38,930,810 (GRCm39)	V9A	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Plekhm3	A	T	1: 64,961,093 (GRCm39)	Y388N	probably benign	Het
Prr18	G	T	17: 8,560,143 (GRCm39)	V100F	probably damaging	Het
Rnf25	T	C	1: 74,634,890 (GRCm39)	Y44C	probably damaging	Het
Smg6	T	C	11: 75,047,048 (GRCm39)	L1247P	probably damaging	Het
Spata31e2	G	A	1: 26,724,482 (GRCm39)	R233C	probably benign	Het
Tdh	T	C	14: 63,733,186 (GRCm39)	T137A	probably benign	Het
Tmem200a	A	G	10: 25,869,393 (GRCm39)	V292A	probably damaging	Het
Ubr3	T	C	2: 69,803,758 (GRCm39)	V1116A	probably benign	Het
Ubr4	G	A	4: 139,136,200 (GRCm39)	E942K	possibly damaging	Het
Unc5b	G	A	10: 60,614,580 (GRCm39)	A239V	probably damaging	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Vmn2r115	A	G	17: 23,566,877 (GRCm39)	E463G	possibly damaging	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
IGL02149:B430306N03Rik	APN	17	48,624,020 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGTGAGGGCAGAGTACATGG -3'
(R):5'- AGATGCCCGAGTCACTCATC -3'

Sequencing Primer
(F):5'- CTGCAACAAGTTCTGAGC -3'
(R):5'- CTCATCTTGAGCTTAGTCATGGTGAC -3'

Posted On

2018-04-02