Mutagenetix > Incidental Mutation

Incidental Mutation 'R3791:A930009A15Rik'

272545

Institutional Source

Beutler Lab

Gene Symbol

A930009A15Rik

Ensembl Gene

ENSMUSG00000092210

Gene Name

RIKEN cDNA A930009A15 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R3791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115405891-115418353 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 115414194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020350] [ENSMUST00000172806] [ENSMUST00000173620] [ENSMUST00000173740]

AlphaFold

G3UYI6

Predicted Effect

probably benign
Transcript: ENSMUST00000020350

SMART Domains

Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRRNT	33	70	1.43e-5	SMART
LRR	64	88	1.41e2	SMART
LRR_TYP	89	112	3.44e-4	SMART
LRR_TYP	113	136	9.88e-5	SMART
LRR_TYP	137	160	9.73e-4	SMART
LRR_TYP	161	184	5.21e-4	SMART
LRR	185	208	6.22e0	SMART
LRR_TYP	209	232	3.89e-3	SMART
LRR	233	255	9.75e0	SMART
LRR_TYP	256	279	1.38e-3	SMART
Blast:LRR	281	303	2e-6	BLAST
Blast:LRR	304	328	1e-5	BLAST
LRR_TYP	351	374	1.56e-2	SMART
LRR	375	396	1.09e2	SMART
LRR_TYP	397	420	7.26e-3	SMART
LRR	421	444	2.86e-1	SMART
low complexity region	518	533	N/A	INTRINSIC
Pfam:7tm_1	574	820	9.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149008

Predicted Effect

probably benign
Transcript: ENSMUST00000172806

SMART Domains

Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRRNT	33	70	1.43e-5	SMART
LRR	64	88	1.41e2	SMART
LRR_TYP	89	112	3.44e-4	SMART
LRR_TYP	113	136	9.88e-5	SMART
LRR_TYP	137	160	9.73e-4	SMART
LRR_TYP	161	184	5.21e-4	SMART
LRR	185	208	6.22e0	SMART
LRR_TYP	209	232	3.89e-3	SMART
LRR	233	255	9.75e0	SMART
LRR	256	279	6.57e-1	SMART
Blast:LRR	280	304	1e-5	BLAST
LRR_TYP	327	350	1.56e-2	SMART
LRR	351	372	1.09e2	SMART
LRR_TYP	373	396	7.26e-3	SMART
LRR	397	420	2.86e-1	SMART
low complexity region	494	509	N/A	INTRINSIC
Pfam:7tm_1	550	796	8.2e-16	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000173620
AA Change: N40I

Predicted Effect

probably benign
Transcript: ENSMUST00000173740

SMART Domains

Protein: ENSMUSP00000133707
Gene: ENSMUSG00000020140

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRRNT	33	70	1.43e-5	SMART
LRR	64	88	1.41e2	SMART
LRR_TYP	89	112	3.44e-4	SMART
LRR_TYP	113	136	9.88e-5	SMART
LRR_TYP	137	160	9.08e-4	SMART
LRR	161	183	9.75e0	SMART
LRR_TYP	184	207	1.38e-3	SMART
Blast:LRR	209	231	1e-6	BLAST
Blast:LRR	232	256	1e-5	BLAST
LRR_TYP	279	302	1.56e-2	SMART
LRR	303	324	1.09e2	SMART
LRR_TYP	325	348	7.26e-3	SMART
LRR	349	372	2.86e-1	SMART
low complexity region	446	461	N/A	INTRINSIC
Pfam:7tm_1	502	748	7.4e-16	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	AGGTGGTGGTGGTGGTGGTGGTGG	AGGTGGTGGTGGTGGTGGTGG	6: 132,603,479 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,741,221 (GRCm39)	Y81C	probably damaging	Het
Alx3	A	T	3: 107,508,022 (GRCm39)	Y177F	probably damaging	Het
C6	A	G	15: 4,764,717 (GRCm39)	T138A	probably benign	Het
Cacna2d3	T	C	14: 28,905,538 (GRCm39)	M410V	probably benign	Het
Ccn4	A	G	15: 66,791,137 (GRCm39)	Y313C	probably damaging	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Cnrip1	C	T	11: 17,004,845 (GRCm39)		probably benign	Het
Col6a5	A	C	9: 105,741,868 (GRCm39)	D2350E	probably damaging	Het
Cyp4a12b	A	G	4: 115,292,167 (GRCm39)	I407V	probably benign	Het
Gpx4	A	G	10: 79,892,023 (GRCm39)	I245V	probably benign	Het
H2-K2	A	G	17: 34,218,499 (GRCm39)	I139T	probably benign	Het
Hmgcl	A	G	4: 135,687,298 (GRCm39)	K191R	probably benign	Het
Hpdl	A	G	4: 116,677,729 (GRCm39)	V244A	possibly damaging	Het
Hpse	A	G	5: 100,840,104 (GRCm39)	S338P	probably damaging	Het
Ifi203	T	C	1: 173,762,646 (GRCm39)	K162R	possibly damaging	Het
Kit	A	G	5: 75,799,810 (GRCm39)	N514S	probably damaging	Het
Kmt2d	G	A	15: 98,742,030 (GRCm39)		probably benign	Het
Limd1	T	A	9: 123,309,439 (GRCm39)	S379R	possibly damaging	Het
Llph	A	G	10: 120,064,060 (GRCm39)	K59E	probably benign	Het
Lrrc7	T	A	3: 157,869,593 (GRCm39)	M709L	probably benign	Het
Muc5ac	A	G	7: 141,352,238 (GRCm39)	S665G	probably benign	Het
Ncapd3	C	T	9: 26,963,931 (GRCm39)	H524Y	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Or51s1	T	C	7: 102,558,239 (GRCm39)	D269G	probably benign	Het
Phtf2	T	C	5: 20,987,296 (GRCm39)	E400G	probably damaging	Het
Pkd1l3	T	C	8: 110,362,949 (GRCm39)	V1080A	probably damaging	Het
Plch1	A	T	3: 63,606,944 (GRCm39)	H1007Q	probably benign	Het
Prr5	T	C	15: 84,565,417 (GRCm39)	S3P	probably damaging	Het
Qtrt1	G	A	9: 21,330,636 (GRCm39)	D279N	probably damaging	Het
Rundc1	G	A	11: 101,325,027 (GRCm39)	A578T	probably damaging	Het
Shc4	A	T	2: 125,565,251 (GRCm39)	V16E	probably damaging	Het
Sik3	A	T	9: 46,106,120 (GRCm39)	L329F	possibly damaging	Het
Slc36a3	A	G	11: 55,015,982 (GRCm39)	S391P	possibly damaging	Het
Smad1	C	A	8: 80,066,399 (GRCm39)	R426L	probably damaging	Het
Tent4b	G	A	8: 88,969,957 (GRCm39)	E210K	probably damaging	Het
Thrap3	A	T	4: 126,061,293 (GRCm39)	N820K	possibly damaging	Het
Tnrc6b	T	C	15: 80,807,841 (GRCm39)	S1598P	probably damaging	Het
Ttn	T	C	2: 76,545,168 (GRCm39)	I32645V	probably damaging	Het
Zfp266	A	C	9: 20,410,777 (GRCm39)	Y467D	probably damaging	Het
Zfp526	T	A	7: 24,925,628 (GRCm39)	M629K	probably damaging	Het
Zfp788	A	T	7: 41,299,152 (GRCm39)	H596L	probably damaging	Het
Zhx3	A	G	2: 160,622,368 (GRCm39)	W600R	possibly damaging	Het

Other mutations in A930009A15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R1871:A930009A15Rik	UTSW	10	115,415,699 (GRCm39)	splice site	probably null
R5463:A930009A15Rik	UTSW	10	115,406,104 (GRCm39)	intron	probably benign
R5486:A930009A15Rik	UTSW	10	115,415,810 (GRCm39)	intron	probably benign
R5506:A930009A15Rik	UTSW	10	115,414,267 (GRCm39)	critical splice donor site	probably null
R5966:A930009A15Rik	UTSW	10	115,415,717 (GRCm39)	intron	probably benign
R6538:A930009A15Rik	UTSW	10	115,406,104 (GRCm39)	intron	probably benign
R6805:A930009A15Rik	UTSW	10	115,415,810 (GRCm39)	intron	probably benign
R7574:A930009A15Rik	UTSW	10	115,406,019 (GRCm39)	intron	probably benign
R7585:A930009A15Rik	UTSW	10	115,414,230 (GRCm39)	missense	unknown
R7607:A930009A15Rik	UTSW	10	115,417,894 (GRCm39)	critical splice acceptor site	probably null
R9457:A930009A15Rik	UTSW	10	115,414,236 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTCACAGTGGTAAGACCCTG -3'
(R):5'- TGTGATGTCCTCCACCACTG -3'

Sequencing Primer
(F):5'- GGCCAGCAGCTGTAAGTG -3'
(R):5'- GGCCTTCCGACTATATATGCAGAG -3'

Posted On

2015-03-25