Mutagenetix > Incidental Mutation

Incidental Mutation 'R2407:4930544G11Rik'

248051

Institutional Source

Beutler Lab

Gene Symbol

4930544G11Rik

Ensembl Gene

ENSMUSG00000036463

Gene Name

RIKEN cDNA 4930544G11 gene

Synonyms

MMRRC Submission

040373-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.775) question?

Stock #

R2407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65929593-65930998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65930212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 149 (N149I)

Ref Sequence

ENSEMBL: ENSMUSP00000045487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043382]

AlphaFold

Q9CR99

Predicted Effect

probably benign
Transcript: ENSMUST00000043382
AA Change: N149I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000045487
Gene: ENSMUSG00000036463
AA Change: N149I

Domain	Start	End	E-Value	Type
RHO	8	181	5.39e-125	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt	G	T	1: 93,063,502 (GRCm39)	A135S	probably benign	Het
Aldh1a2	A	T	9: 71,159,880 (GRCm39)	I40F	probably damaging	Het
Ang	T	A	14: 51,339,103 (GRCm39)	C81*	probably null	Het
Apc	G	T	18: 34,447,315 (GRCm39)	V1370F	possibly damaging	Het
Arfgef3	T	C	10: 18,553,614 (GRCm39)	T127A	possibly damaging	Het
Cd1d1	A	G	3: 86,905,489 (GRCm39)	L168P	probably damaging	Het
Cfap251	A	T	5: 123,428,032 (GRCm39)	M510L	probably benign	Het
Epb42	C	A	2: 120,855,233 (GRCm39)	V451F	probably damaging	Het
F5	T	A	1: 164,039,441 (GRCm39)	L2017Q	probably damaging	Het
Hmcn2	A	T	2: 31,225,424 (GRCm39)		probably null	Het
Kif13a	G	A	13: 46,930,573 (GRCm39)	P164S	probably damaging	Het
Kirrel1	T	A	3: 86,992,150 (GRCm39)	I593F	probably benign	Het
Lin28b	A	T	10: 45,257,183 (GRCm39)	I265N	possibly damaging	Het
Mctp2	A	T	7: 71,850,155 (GRCm39)	D507E	probably benign	Het
Morc3	G	A	16: 93,641,215 (GRCm39)		probably null	Het
Myo3b	T	C	2: 70,085,597 (GRCm39)	Y750H	probably damaging	Het
Nrp1	T	C	8: 129,158,426 (GRCm39)	S238P	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Otog	A	G	7: 45,890,964 (GRCm39)	E41G	probably benign	Het
Pclo	G	T	5: 14,728,946 (GRCm39)		probably benign	Het
Pdzd2	T	C	15: 12,373,247 (GRCm39)	D2296G	probably damaging	Het
Peak1	A	G	9: 56,166,510 (GRCm39)	C473R	probably damaging	Het
Rad51ap2	T	A	12: 11,508,502 (GRCm39)	M808K	probably damaging	Het
Sec24b	A	C	3: 129,795,965 (GRCm39)	S651A	probably benign	Het
Slc17a3	G	A	13: 24,036,418 (GRCm39)		probably null	Het
Slc4a10	A	G	2: 62,143,687 (GRCm39)	H1074R	probably benign	Het
Spata31d1b	A	G	13: 59,864,660 (GRCm39)	K603E	possibly damaging	Het
Spata31e2	A	T	1: 26,721,919 (GRCm39)	M1087K	possibly damaging	Het
Sptbn4	T	A	7: 27,117,523 (GRCm39)	K409*	probably null	Het
Tacc2	G	A	7: 130,223,770 (GRCm39)	V152I	possibly damaging	Het
Tiam2	A	G	17: 3,527,536 (GRCm39)	M65V	probably benign	Het
Tmem131l	G	T	3: 83,829,355 (GRCm39)	Q1100K	probably benign	Het
Togaram1	T	C	12: 65,014,444 (GRCm39)	M565T	probably damaging	Het
Trib1	T	C	15: 59,526,449 (GRCm39)	Y340H	probably benign	Het
Wdr7	A	T	18: 63,893,794 (GRCm39)	M643L	probably benign	Het
Zfp51	A	T	17: 21,684,093 (GRCm39)	H236L	probably damaging	Het

Other mutations in 4930544G11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00698:4930544G11Rik	APN	6	65,929,879 (GRCm39)	missense	probably damaging	1.00
IGL01071:4930544G11Rik	APN	6	65,930,137 (GRCm39)	missense	probably damaging	1.00
IGL02528:4930544G11Rik	APN	6	65,930,357 (GRCm39)	utr 3 prime	probably benign
IGL02655:4930544G11Rik	APN	6	65,930,074 (GRCm39)	missense	probably damaging	1.00
IGL02692:4930544G11Rik	APN	6	65,929,792 (GRCm39)	missense	probably damaging	1.00
PIT4576001:4930544G11Rik	UTSW	6	65,929,983 (GRCm39)	missense	probably damaging	1.00
R7070:4930544G11Rik	UTSW	6	65,930,232 (GRCm39)	missense	probably damaging	0.98
R7203:4930544G11Rik	UTSW	6	65,930,317 (GRCm39)	missense	probably benign
R7910:4930544G11Rik	UTSW	6	65,930,289 (GRCm39)	missense	probably benign	0.01
R8462:4930544G11Rik	UTSW	6	65,930,074 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- ATCCCGACACTGATGTTCTC -3'
(R):5'- CTTGAAAATTAACTGTACCGGGAC -3'

Sequencing Primer
(F):5'- ACCCTGATAGCTTTGGGAAC -3'
(R):5'- ACCGGGACTGTGTTTGCAC -3'

Posted On

2014-11-11