Mutagenetix > Incidental Mutation

Incidental Mutation 'R9024:4930579F01Rik'

686405

Institutional Source

Beutler Lab

Gene Symbol

4930579F01Rik

Ensembl Gene

ENSMUSG00000012042

Gene Name

RIKEN cDNA 4930579F01 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R9024 (G1)

Quality Score

218.009

Status

Not validated

Chromosome

Chromosomal Location

137869839-137899592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 137891923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 16 (A16S)

Ref Sequence

ENSEMBL: ENSMUSP00000012186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012186] [ENSMUST00000199293]

AlphaFold

A0A5F8MPV9

Predicted Effect

unknown
Transcript: ENSMUST00000012186
AA Change: A16S

SMART Domains

Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042
AA Change: A16S

Domain	Start	End	E-Value	Type
Pfam:SPATIAL	17	201	1.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199293

SMART Domains

Protein: ENSMUSP00000142940
Gene: ENSMUSG00000012042

Domain	Start	End	E-Value	Type
Pfam:SPATIAL	1	76	9.6e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3b1	T	A	19: 3,968,155 (GRCm39)	I335F	probably damaging	Het
Asph	A	T	4: 9,475,025 (GRCm39)	Y650N	probably damaging	Het
Atr	T	C	9: 95,789,416 (GRCm39)	V1524A	possibly damaging	Het
Ccin	A	G	4: 43,983,562 (GRCm39)		probably benign	Het
Cdk15	A	T	1: 59,326,957 (GRCm39)	I213F	probably damaging	Het
Chfr	G	T	5: 110,306,698 (GRCm39)	S481I	probably benign	Het
Coro2a	T	C	4: 46,542,323 (GRCm39)	D350G	probably benign	Het
Ctps1	C	A	4: 120,406,707 (GRCm39)	E350*	probably null	Het
Dctn4	G	A	18: 60,678,894 (GRCm39)		probably null	Het
Epha4	C	A	1: 77,365,169 (GRCm39)	R610L	possibly damaging	Het
Esp4	A	T	17: 40,911,102 (GRCm39)	M1L	unknown	Het
Fads3	T	C	19: 10,033,839 (GRCm39)	V408A	probably damaging	Het
Gm19402	T	A	10: 77,525,805 (GRCm39)	K263*	probably null	Het
Gm26657	G	T	4: 56,740,769 (GRCm39)		probably benign	Het
Hsdl1	A	G	8: 120,290,839 (GRCm39)	V311A	probably benign	Het
Hsp90b1	A	G	10: 86,541,174 (GRCm39)	F16L	possibly damaging	Het
Icmt	T	C	4: 152,385,161 (GRCm39)	C208R	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ipo7	T	A	7: 109,643,943 (GRCm39)		probably null	Het
Kif21a	T	A	15: 90,821,399 (GRCm39)	K1465*	probably null	Het
Klhl9	A	T	4: 88,639,999 (GRCm39)	F81I	probably damaging	Het
Kynu	A	G	2: 43,490,807 (GRCm39)	H170R	possibly damaging	Het
Mmp12	A	G	9: 7,355,444 (GRCm39)	Y397C	probably damaging	Het
Mpped2	T	C	2: 106,614,043 (GRCm39)	F126L	probably benign	Het
Muc2	C	T	7: 141,287,936 (GRCm39)	P236S	probably damaging	Het
Myo10	A	G	15: 25,793,295 (GRCm39)	T1291A	possibly damaging	Het
Myom2	T	C	8: 15,113,936 (GRCm39)	L28P	probably damaging	Het
Nfatc2	T	C	2: 168,328,648 (GRCm39)	*924W	probably null	Het
Nrip1	G	T	16: 76,088,388 (GRCm39)	Y1056*	probably null	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Oxr1	A	G	15: 41,694,518 (GRCm39)	Y20C	probably damaging	Het
P2ry2	T	C	7: 100,647,229 (GRCm39)	T359A	probably damaging	Het
Paxbp1	G	A	16: 90,840,963 (GRCm39)	R94C	possibly damaging	Het
Pbrm1	A	G	14: 30,783,623 (GRCm39)	Y569C	probably damaging	Het
Pkhd1	T	C	1: 20,592,975 (GRCm39)	T1713A	probably benign	Het
Plekha5	A	G	6: 140,370,176 (GRCm39)	S56G	probably benign	Het
Plekhg5	T	C	4: 152,197,118 (GRCm39)	I801T	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pogz	A	T	3: 94,785,543 (GRCm39)	N833Y	probably damaging	Het
Polk	G	T	13: 96,623,340 (GRCm39)	H501N	probably benign	Het
Ptprd	T	C	4: 75,874,567 (GRCm39)	N1043S	probably damaging	Het
Rad18	A	T	6: 112,626,562 (GRCm39)	C448S	probably benign	Het
Rhof	T	A	5: 123,269,963 (GRCm39)	K65*	probably null	Het
Rpa2	T	C	4: 132,499,153 (GRCm39)	V74A	probably damaging	Het
Smarcc1	T	C	9: 110,015,001 (GRCm39)	M522T	probably damaging	Het
Snai2	T	C	16: 14,524,769 (GRCm39)	S92P	probably benign	Het
Srrt	C	A	5: 137,301,291 (GRCm39)	R45L	unknown	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tubd1	T	G	11: 86,445,991 (GRCm39)	H210Q	possibly damaging	Het
Usp36	T	C	11: 118,166,983 (GRCm39)	N298S	possibly damaging	Het
Vmn2r63	T	G	7: 42,577,874 (GRCm39)	R221S	probably benign	Het
Vps13b	A	G	15: 35,923,470 (GRCm39)	I3782V	probably damaging	Het
Zfp184	T	A	13: 22,143,128 (GRCm39)	I278N	probably damaging	Het

Other mutations in 4930579F01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:4930579F01Rik	APN	3	137,891,959 (GRCm39)	intron	probably benign
IGL02121:4930579F01Rik	APN	3	137,870,134 (GRCm39)	missense	possibly damaging	0.93
IGL02424:4930579F01Rik	APN	3	137,880,466 (GRCm39)	splice site	probably benign
R0008:4930579F01Rik	UTSW	3	137,882,346 (GRCm39)	missense	possibly damaging	0.67
R0008:4930579F01Rik	UTSW	3	137,882,346 (GRCm39)	missense	possibly damaging	0.67
R0373:4930579F01Rik	UTSW	3	137,879,343 (GRCm39)	missense	probably damaging	0.96
R1082:4930579F01Rik	UTSW	3	137,879,332 (GRCm39)	missense	possibly damaging	0.95
R1163:4930579F01Rik	UTSW	3	137,882,271 (GRCm39)	missense	probably damaging	1.00
R1538:4930579F01Rik	UTSW	3	137,889,517 (GRCm39)	missense	probably damaging	1.00
R2151:4930579F01Rik	UTSW	3	137,882,217 (GRCm39)	critical splice donor site	probably null
R2364:4930579F01Rik	UTSW	3	137,871,584 (GRCm39)	missense	probably benign	0.00
R3978:4930579F01Rik	UTSW	3	137,889,435 (GRCm39)	missense	probably benign	0.01
R4108:4930579F01Rik	UTSW	3	137,889,431 (GRCm39)	missense	probably benign	0.14
R5812:4930579F01Rik	UTSW	3	137,882,299 (GRCm39)	missense	probably damaging	1.00
R5960:4930579F01Rik	UTSW	3	137,889,528 (GRCm39)	missense	possibly damaging	0.58
R6329:4930579F01Rik	UTSW	3	137,879,457 (GRCm39)	missense	probably damaging	1.00
R6599:4930579F01Rik	UTSW	3	137,882,250 (GRCm39)	missense	probably benign	0.00
R6862:4930579F01Rik	UTSW	3	137,891,949 (GRCm39)	intron	probably benign
R6897:4930579F01Rik	UTSW	3	137,889,534 (GRCm39)	missense	possibly damaging	0.85
R7092:4930579F01Rik	UTSW	3	137,889,506 (GRCm39)	missense	probably benign	0.08
R7919:4930579F01Rik	UTSW	3	137,885,311 (GRCm39)	missense	probably damaging	1.00
R8381:4930579F01Rik	UTSW	3	137,879,282 (GRCm39)	critical splice donor site	probably null
R9180:4930579F01Rik	UTSW	3	137,889,470 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ATGCAGCCAGAATACAGGGC -3'
(R):5'- ACTGCGGAGTCATCAACAG -3'

Sequencing Primer
(F):5'- CACTGAAGAGTGGCTGGG -3'
(R):5'- CCTAGTGTTTTAATCACAGACACCG -3'

Posted On

2021-10-11