Mutagenetix > Incidental Mutation

Incidental Mutation 'R1147:Rsad1'

165171

Institutional Source

Beutler Lab

Gene Symbol

Rsad1

Ensembl Gene

ENSMUSG00000039096

Gene Name

radical S-adenosyl methionine domain containing 1

Synonyms

MMRRC Submission

039220-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R1147 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94430624-94440081 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94434966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 290 (Y290C)

Ref Sequence

ENSEMBL: ENSMUSP00000037361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040487]

AlphaFold

Q5SUV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000040487
AA Change: Y290C

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

SMART Domains

Protein: ENSMUSP00000037361
Gene: ENSMUSG00000039096
AA Change: Y290C

Domain	Start	End	E-Value	Type
low complexity region	6	24	N/A	INTRINSIC
Elp3	39	259	6.54e-40	SMART
Pfam:HemN_C	346	414	7.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148888

Meta Mutation Damage Score

0.9716

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.0%
20x: 91.6%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	C	8: 41,248,655 (GRCm39)	I255T	possibly damaging	Het
Aknad1	T	A	3: 108,659,857 (GRCm39)	N290K	possibly damaging	Het
Ano8	C	A	8: 71,934,661 (GRCm39)	V447F	probably damaging	Het
Arhgef12	C	T	9: 42,955,552 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	A	T	3: 88,892,194 (GRCm39)	M1358L	possibly damaging	Het
Ccdc110	A	G	8: 46,397,121 (GRCm39)	K837E	possibly damaging	Het
Cd19	T	A	7: 126,010,217 (GRCm39)	D384V	possibly damaging	Het
Ces1f	C	T	8: 93,984,909 (GRCm39)	V473I	possibly damaging	Het
Chd6	C	T	2: 160,832,191 (GRCm39)	E994K	probably damaging	Het
Col5a2	G	T	1: 45,415,931 (GRCm39)	N1405K	probably damaging	Het
Dnah7b	A	G	1: 46,379,426 (GRCm39)	D3720G	probably damaging	Het
Dsel	T	C	1: 111,789,939 (GRCm39)	T199A	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Flacc1	A	T	1: 58,708,622 (GRCm39)	Y215N	probably damaging	Het
Hrg	G	T	16: 22,779,754 (GRCm39)	C344F	probably damaging	Het
Htt	T	C	5: 35,008,596 (GRCm39)	Y1462H	probably damaging	Het
Kcnh2	T	A	5: 24,529,385 (GRCm39)	I784F	probably damaging	Het
Kifc3	T	C	8: 95,864,546 (GRCm39)	T55A	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lsamp	G	A	16: 41,994,499 (GRCm39)		probably benign	Het
Meis3	G	A	7: 15,917,701 (GRCm39)		probably benign	Het
Nlrp4d	A	T	7: 10,122,644 (GRCm39)	N73K	probably benign	Het
Oog3	A	G	4: 143,884,982 (GRCm39)	F318S	possibly damaging	Het
Or2a20	A	T	6: 43,194,146 (GRCm39)	T100S	probably damaging	Het
Or52w1	G	A	7: 105,018,484 (GRCm39)	R308Q	probably benign	Het
Pde5a	C	T	3: 122,587,962 (GRCm39)	T376M	probably damaging	Het
Pkhd1l1	A	G	15: 44,400,837 (GRCm39)	I2204V	probably null	Het
Ppp1r13l	A	G	7: 19,109,772 (GRCm39)	D731G	probably damaging	Het
Prob1	G	A	18: 35,787,859 (GRCm39)	Q132*	probably null	Het
Ptk6	C	T	2: 180,837,590 (GRCm39)	G443D	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,730,504 (GRCm39)	D749G	probably damaging	Het
Ralgapa1	A	T	12: 55,749,265 (GRCm39)	D1212E	probably damaging	Het
Scamp1	A	G	13: 94,361,394 (GRCm39)		probably null	Het
Slc6a11	T	A	6: 114,221,831 (GRCm39)	I507N	possibly damaging	Het
Stx18	T	G	5: 38,284,267 (GRCm39)		probably benign	Het
Sybu	A	T	15: 44,609,651 (GRCm39)	F78I	probably damaging	Het
Tecpr2	T	G	12: 110,907,872 (GRCm39)		probably benign	Het
Tox	A	T	4: 6,823,055 (GRCm39)	N87K	possibly damaging	Het
Trrap	G	A	5: 144,741,576 (GRCm39)	G1308R	probably damaging	Het
Trub2	A	G	2: 29,677,644 (GRCm39)		probably benign	Het
Vmn2r114	A	T	17: 23,530,037 (GRCm39)	H123Q	probably benign	Het
Vmn2r15	T	A	5: 109,441,072 (GRCm39)	Y262F	probably damaging	Het
Vmn2r33	C	T	7: 7,557,144 (GRCm39)	E519K	probably benign	Het
Zfat	A	T	15: 68,084,432 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,351,017 (GRCm39)	C1545S	probably damaging	Het

Other mutations in Rsad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Rsad1	APN	11	94,434,466 (GRCm39)	missense	possibly damaging	0.65
IGL01915:Rsad1	APN	11	94,439,803 (GRCm39)	splice site	probably null
R0271:Rsad1	UTSW	11	94,439,290 (GRCm39)	splice site	probably benign
R0619:Rsad1	UTSW	11	94,433,465 (GRCm39)	missense	probably damaging	1.00
R1147:Rsad1	UTSW	11	94,434,966 (GRCm39)	missense	probably damaging	1.00
R2069:Rsad1	UTSW	11	94,439,951 (GRCm39)	start gained	probably benign
R3831:Rsad1	UTSW	11	94,434,130 (GRCm39)	missense	probably benign	0.45
R3833:Rsad1	UTSW	11	94,434,130 (GRCm39)	missense	probably benign	0.45
R4152:Rsad1	UTSW	11	94,439,449 (GRCm39)	intron	probably benign
R4467:Rsad1	UTSW	11	94,435,356 (GRCm39)	missense	probably benign
R4672:Rsad1	UTSW	11	94,434,444 (GRCm39)	missense	probably damaging	0.99
R5452:Rsad1	UTSW	11	94,434,515 (GRCm39)	missense	probably damaging	0.98
R6190:Rsad1	UTSW	11	94,439,062 (GRCm39)	missense	probably damaging	1.00
R6608:Rsad1	UTSW	11	94,433,435 (GRCm39)	missense	probably damaging	1.00
R6749:Rsad1	UTSW	11	94,434,166 (GRCm39)	missense	probably damaging	1.00
R7821:Rsad1	UTSW	11	94,435,288 (GRCm39)	missense	probably benign
R8818:Rsad1	UTSW	11	94,439,100 (GRCm39)	missense	probably benign	0.20
R8984:Rsad1	UTSW	11	94,439,010 (GRCm39)	missense	probably damaging	0.99
R9714:Rsad1	UTSW	11	94,435,298 (GRCm39)	missense	probably benign	0.00
X0024:Rsad1	UTSW	11	94,439,807 (GRCm39)	critical splice donor site	probably null
Z1177:Rsad1	UTSW	11	94,433,811 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTCTCATCTATGCCAGGCTCAG -3'
(R):5'- GGTCTCCAATTTTGCACGGAACG -3'

Sequencing Primer
(F):5'- CATTCCACGGTTCTACAGAGAGG -3'
(R):5'- gggggtggagtggggag -3'

Posted On

2014-03-28