Mutagenetix > Incidental Mutations

Incidental Mutation 'R4415:B020004C17Rik'

326810

Institutional Source

Beutler Lab

Gene Symbol

B020004C17Rik

Ensembl Gene

ENSMUSG00000096144

Gene Name

RIKEN cDNA B020004C17 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R4415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57015134-57018982 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 57017417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 233 (*233R)

Ref Sequence

ENSEMBL: ENSMUSP00000137042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178161]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000178161
AA Change: *233R

SMART Domains

Protein: ENSMUSP00000137042
Gene: ENSMUSG00000096144
AA Change: *233R

Domain	Start	End	E-Value	Type
low complexity region	70	83	N/A	INTRINSIC
low complexity region	221	231	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225045

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
Ace3	A	T	11: 106,005,121	D631V	probably benign	Het
Adam17	T	C	12: 21,345,701	I274V	possibly damaging	Het
Aebp1	A	G	11: 5,865,451	D303G	probably damaging	Het
Bcl9l	C	T	9: 44,501,879	P127S	possibly damaging	Het
Bdp1	T	C	13: 100,030,861	D2215G	probably damaging	Het
Caly	T	C	7: 140,072,680	T52A	probably damaging	Het
Ccdc125	T	C	13: 100,696,309	S465P	possibly damaging	Het
Cdc23	ACC	AC	18: 34,637,318		probably null	Het
Colq	T	C	14: 31,535,688	K231E	probably damaging	Het
Fam32a	T	A	8: 72,221,941	I77N	probably damaging	Het
Gm597	T	A	1: 28,777,133	Q606L	probably benign	Het
Impdh1	C	T	6: 29,209,222	V49M	probably damaging	Het
Kcnh7	A	G	2: 62,706,073	I1055T	probably damaging	Het
Lad1	A	G	1: 135,828,746	D364G	probably benign	Het
Lama2	G	T	10: 26,989,344	Y947*	probably null	Het
Myo5b	T	A	18: 74,580,408	I108N	probably damaging	Het
Nvl	T	C	1: 181,105,114	T713A	probably benign	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Pappa	A	G	4: 65,305,295	T1236A	probably benign	Het
Rcl1	G	A	19: 29,118,362	V116I	probably benign	Het
Rdh14	G	A	12: 10,391,231		probably null	Het
Rfx2	T	A	17: 56,787,733	T204S	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Ripor1	T	C	8: 105,617,976	S581P	probably benign	Het
Rnf213	T	A	11: 119,483,964	V5084E	probably damaging	Het
Scn9a	A	T	2: 66,526,693	V1077E	probably damaging	Het
Slc15a5	A	G	6: 138,079,756	V54A	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Snx19	T	A	9: 30,437,483	L804Q	probably damaging	Het
Specc1l	C	A	10: 75,246,328	N519K	possibly damaging	Het
Stambp	A	T	6: 83,557,482	N274K	probably damaging	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Tacc3	T	G	5: 33,666,684		probably null	Het
Tmem55a	C	T	4: 14,912,463	R191C	probably damaging	Het
Tubb1	G	A	2: 174,457,673	E383K	probably benign	Het
Ube3b	A	T	5: 114,412,444	D844V	probably damaging	Het

Other mutations in B020004C17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:B020004C17Rik	APN	14	57016023	missense	probably damaging	0.96
IGL03396:B020004C17Rik	APN	14	57016536	missense	possibly damaging	0.61
R0664:B020004C17Rik	UTSW	14	57016768	missense	possibly damaging	0.56
R3977:B020004C17Rik	UTSW	14	57017188	missense	possibly damaging	0.78
R3978:B020004C17Rik	UTSW	14	57017188	missense	possibly damaging	0.78
R3979:B020004C17Rik	UTSW	14	57017188	missense	possibly damaging	0.78
R5290:B020004C17Rik	UTSW	14	57016579	missense	possibly damaging	0.94
R5479:B020004C17Rik	UTSW	14	57016542	missense	probably benign	0.36
R5651:B020004C17Rik	UTSW	14	57015232	start gained	probably benign
R5655:B020004C17Rik	UTSW	14	57015232	start gained	probably benign
R5736:B020004C17Rik	UTSW	14	57017366	missense	possibly damaging	0.66
R7368:B020004C17Rik	UTSW	14	57017316	missense	possibly damaging	0.95
R7759:B020004C17Rik	UTSW	14	57016785	missense	possibly damaging	0.96
R9299:B020004C17Rik	UTSW	14	57016773	missense	probably damaging	0.96
R9410:B020004C17Rik	UTSW	14	57016816	missense	possibly damaging	0.92
Z1177:B020004C17Rik	UTSW	14	57015260	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGAACCCATCGCTGATGATG -3'
(R):5'- GAGAGTTTAGCCTCAGGGTCAG -3'

Sequencing Primer
(F):5'- CATCGCTGATGATGTCCAGTCAG -3'
(R):5'- GTTTAGCCTCAGGGTCAGAAATC -3'

Posted On

2015-07-07