Mutagenetix > Incidental Mutation

Incidental Mutation 'R3820:4921524L21Rik'

274885

Institutional Source

Beutler Lab

Gene Symbol

4921524L21Rik

Ensembl Gene

ENSMUSG00000039540

Gene Name

RIKEN cDNA 4921524L21 gene

Synonyms

MMRRC Submission

040882-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R3820 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6603629-6638970 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 6630166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044829]

AlphaFold

Q9D5T2

Predicted Effect

probably null
Transcript: ENSMUST00000044829

SMART Domains

Protein: ENSMUSP00000035514
Gene: ENSMUSG00000039540

Domain	Start	End	E-Value	Type
Pfam:DUF3496	131	235	6.9e-12	PFAM
coiled coil region	269	292	N/A	INTRINSIC
low complexity region	408	419	N/A	INTRINSIC

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,301,971 (GRCm39)	I332F	probably damaging	Het
Abcd2	C	T	15: 91,058,908 (GRCm39)	G512D	probably damaging	Het
Adam6a	T	C	12: 113,507,798 (GRCm39)	I57T	probably benign	Het
Adam6b	C	T	12: 113,453,984 (GRCm39)	T267I	probably benign	Het
Ap1g2	G	A	14: 55,338,030 (GRCm39)		probably benign	Het
Arhgap22	G	A	14: 33,089,378 (GRCm39)	E455K	probably benign	Het
Bltp1	G	A	3: 37,094,583 (GRCm39)	V917I	probably damaging	Het
Ccdc93	T	C	1: 121,389,969 (GRCm39)	I253T	probably damaging	Het
Cd44	T	C	2: 102,731,738 (GRCm39)		probably null	Het
Cnot6	A	T	11: 49,579,999 (GRCm39)	S98T	probably benign	Het
Dnah9	C	A	11: 65,741,829 (GRCm39)		probably null	Het
Edar	T	C	10: 58,457,185 (GRCm39)	Y131C	probably damaging	Het
Eif5	A	T	12: 111,506,618 (GRCm39)	R43*	probably null	Het
Eml4	C	A	17: 83,780,494 (GRCm39)	T667K	probably damaging	Het
Fchsd1	A	G	18: 38,102,510 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,636,827 (GRCm39)		probably benign	Het
Frem2	T	A	3: 53,424,270 (GRCm39)	I3056F	probably damaging	Het
Hivep1	A	T	13: 42,337,787 (GRCm39)	H2622L	possibly damaging	Het
Ido2	T	C	8: 25,023,771 (GRCm39)	I356V	probably benign	Het
Insyn2b	T	C	11: 34,353,007 (GRCm39)	S350P	probably benign	Het
Itgb3	C	A	11: 104,524,438 (GRCm39)	Y191*	probably null	Het
Kcnma1	T	C	14: 23,350,006 (GRCm39)	T1178A	possibly damaging	Het
Kcnt1	A	G	2: 25,790,904 (GRCm39)	H486R	probably damaging	Het
Kif21a	T	C	15: 90,852,277 (GRCm39)	N950S	probably benign	Het
Lama1	C	A	17: 68,086,041 (GRCm39)		probably null	Het
Lrrc4b	T	A	7: 44,111,982 (GRCm39)	V618E	probably damaging	Het
Micall2	C	T	5: 139,701,611 (GRCm39)	G461D	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncoa6	T	A	2: 155,248,858 (GRCm39)	N1482I	probably damaging	Het
Pcdhga10	A	G	18: 37,880,995 (GRCm39)	N252S	probably damaging	Het
Pcdhgb7	C	A	18: 37,885,286 (GRCm39)	T152K	possibly damaging	Het
Pds5a	A	G	5: 65,811,419 (GRCm39)	V338A	possibly damaging	Het
Pds5b	T	C	5: 150,659,802 (GRCm39)	V255A	possibly damaging	Het
Prkar2a	T	G	9: 108,624,155 (GRCm39)	F391V	probably damaging	Het
Prr14l	A	G	5: 32,986,328 (GRCm39)	C1056R	probably damaging	Het
Ptpn23	A	G	9: 110,218,862 (GRCm39)		probably benign	Het
Serpinb5	T	A	1: 106,802,802 (GRCm39)	Y112*	probably null	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Tdrd5	A	G	1: 156,113,053 (GRCm39)	V409A	probably benign	Het
Tenm2	A	T	11: 35,915,147 (GRCm39)	I2129N	probably damaging	Het
Tmem8b	C	A	4: 43,689,745 (GRCm39)	H800N	probably damaging	Het
Trpm3	A	T	19: 22,964,813 (GRCm39)	N1436I	probably benign	Het
Unc13c	A	T	9: 73,838,240 (GRCm39)	S870R	probably benign	Het
Vmn2r16	C	T	5: 109,510,143 (GRCm39)	P509S	probably benign	Het
Vmn2r60	A	T	7: 41,785,125 (GRCm39)	E112D	probably damaging	Het
Xpnpep1	G	A	19: 52,992,250 (GRCm39)		probably benign	Het
Zfp729a	A	T	13: 67,769,438 (GRCm39)	C264S	probably damaging	Het
Zmynd8	T	A	2: 165,657,381 (GRCm39)	K521*	probably null	Het

Other mutations in 4921524L21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:4921524L21Rik	APN	18	6,629,578 (GRCm39)	missense	possibly damaging	0.93
IGL01402:4921524L21Rik	APN	18	6,638,653 (GRCm39)	missense	possibly damaging	0.65
IGL01404:4921524L21Rik	APN	18	6,638,653 (GRCm39)	missense	possibly damaging	0.65
IGL02680:4921524L21Rik	APN	18	6,635,949 (GRCm39)	splice site	probably benign
PIT4812001:4921524L21Rik	UTSW	18	6,630,053 (GRCm39)	missense	possibly damaging	0.93
R0532:4921524L21Rik	UTSW	18	6,638,618 (GRCm39)	missense	possibly damaging	0.83
R1069:4921524L21Rik	UTSW	18	6,624,037 (GRCm39)	missense	probably benign	0.01
R1706:4921524L21Rik	UTSW	18	6,624,059 (GRCm39)	splice site	probably benign
R1768:4921524L21Rik	UTSW	18	6,623,470 (GRCm39)	missense	possibly damaging	0.72
R1912:4921524L21Rik	UTSW	18	6,620,205 (GRCm39)	missense	possibly damaging	0.72
R3840:4921524L21Rik	UTSW	18	6,620,104 (GRCm39)	missense	probably benign	0.44
R3841:4921524L21Rik	UTSW	18	6,620,104 (GRCm39)	missense	probably benign	0.44
R4201:4921524L21Rik	UTSW	18	6,623,952 (GRCm39)	critical splice acceptor site	probably null
R4852:4921524L21Rik	UTSW	18	6,623,488 (GRCm39)	missense	probably damaging	0.99
R4852:4921524L21Rik	UTSW	18	6,623,487 (GRCm39)	missense	possibly damaging	0.91
R5218:4921524L21Rik	UTSW	18	6,629,628 (GRCm39)	missense	possibly damaging	0.63
R5389:4921524L21Rik	UTSW	18	6,638,795 (GRCm39)	missense	probably benign	0.14
R5428:4921524L21Rik	UTSW	18	6,635,918 (GRCm39)	missense	probably benign	0.04
R5873:4921524L21Rik	UTSW	18	6,630,167 (GRCm39)	critical splice donor site	probably null
R6120:4921524L21Rik	UTSW	18	6,638,795 (GRCm39)	missense	possibly damaging	0.85
R6345:4921524L21Rik	UTSW	18	6,626,399 (GRCm39)	missense	possibly damaging	0.71
R7246:4921524L21Rik	UTSW	18	6,635,902 (GRCm39)	missense	probably damaging	0.98
R7296:4921524L21Rik	UTSW	18	6,626,385 (GRCm39)	missense	probably damaging	0.99
R8796:4921524L21Rik	UTSW	18	6,629,482 (GRCm39)	missense	possibly damaging	0.95
R8897:4921524L21Rik	UTSW	18	6,635,934 (GRCm39)	missense	probably damaging	0.98
R8930:4921524L21Rik	UTSW	18	6,629,693 (GRCm39)	critical splice donor site	probably null
R8932:4921524L21Rik	UTSW	18	6,629,693 (GRCm39)	critical splice donor site	probably null
R8991:4921524L21Rik	UTSW	18	6,620,232 (GRCm39)	missense	probably damaging	0.99
R9108:4921524L21Rik	UTSW	18	6,638,794 (GRCm39)	missense	probably benign	0.04
R9235:4921524L21Rik	UTSW	18	6,623,518 (GRCm39)	missense	possibly damaging	0.96
R9642:4921524L21Rik	UTSW	18	6,619,412 (GRCm39)	critical splice donor site	probably null
Z1177:4921524L21Rik	UTSW	18	6,635,865 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGTAGAGGAGTCCTGCAT -3'
(R):5'- GCAGTTGGCATTATTCTTACTGTA -3'

Sequencing Primer
(F):5'- GTAGAGGAGTCCTGCATTATTTTAAG -3'
(R):5'- TGGGATTTCAACTCAGGACC -3'

Posted On

2015-04-02