Mutagenetix > Incidental Mutation

Incidental Mutation 'R5786:4930578I06Rik'

448046

Institutional Source

Beutler Lab

Gene Symbol

4930578I06Rik

Ensembl Gene

ENSMUSG00000021961

Gene Name

RIKEN cDNA 4930578I06 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5786 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

64208570-64225229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 64210691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 179 (R179L)

Ref Sequence

ENSEMBL: ENSMUSP00000152904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022532] [ENSMUST00000224600]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022532
AA Change: R179L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022532
Gene: ENSMUSG00000021961
AA Change: R179L

Domain	Start	End	E-Value	Type
Pfam:CLAMP	28	137	1.6e-11	PFAM
low complexity region	260	270	N/A	INTRINSIC
low complexity region	284	298	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000224600
AA Change: R179L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225544

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,945,122 (GRCm39)	D200E	probably damaging	Het
Abhd5	A	G	9: 122,192,868 (GRCm39)		probably null	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Ano5	G	A	7: 51,216,066 (GRCm39)	D348N	possibly damaging	Het
Apob	C	T	12: 8,065,304 (GRCm39)	T4091I	possibly damaging	Het
Avil	G	A	10: 126,852,368 (GRCm39)		probably null	Het
Cacna1a	T	C	8: 85,142,350 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,082,102 (GRCm39)	L436P	probably damaging	Het
Ccdc33	A	G	9: 57,937,235 (GRCm39)	S655P	possibly damaging	Het
Ccr6	T	C	17: 8,475,244 (GRCm39)	S150P	probably damaging	Het
Cd1d1	T	C	3: 86,906,095 (GRCm39)	N60S	probably benign	Het
Ckap5	A	G	2: 91,446,641 (GRCm39)		probably null	Het
Col15a1	A	G	4: 47,280,865 (GRCm39)	E753G	possibly damaging	Het
Col1a2	C	T	6: 4,530,223 (GRCm39)	R699W	unknown	Het
Cracd	T	C	5: 77,014,043 (GRCm39)		probably null	Het
Csf2rb	T	C	15: 78,233,155 (GRCm39)	Y821H	probably damaging	Het
Cyp3a11	A	G	5: 145,799,284 (GRCm39)	I301T	possibly damaging	Het
Dpp3	C	T	19: 4,968,350 (GRCm39)	G241R	possibly damaging	Het
Dpyd	G	T	3: 119,220,886 (GRCm39)	M952I	probably damaging	Het
Dsg3	A	T	18: 20,654,628 (GRCm39)	I111L	possibly damaging	Het
Ect2	A	G	3: 27,201,102 (GRCm39)	F123L	probably damaging	Het
Ehmt2	G	C	17: 35,129,719 (GRCm39)	D961H	probably damaging	Het
Esp1	A	G	17: 41,041,809 (GRCm39)	I34V	probably benign	Het
Fam171b	G	A	2: 83,708,580 (GRCm39)	V361I	probably benign	Het
Flnc	T	A	6: 29,459,536 (GRCm39)	Y2545*	probably null	Het
Fmo4	C	T	1: 162,631,286 (GRCm39)	G227D	probably benign	Het
Grn	C	T	11: 102,324,869 (GRCm39)	Q153*	probably null	Het
H2-DMb1	T	G	17: 34,372,408 (GRCm39)	S12R	possibly damaging	Het
Ica1	G	T	6: 8,672,391 (GRCm39)	N203K	possibly damaging	Het
Kdm4c	C	A	4: 74,277,722 (GRCm39)	T792K	probably damaging	Het
Kif19a	T	A	11: 114,670,049 (GRCm39)	Y81*	probably null	Het
Kifc2	G	T	15: 76,548,578 (GRCm39)	C440F	probably damaging	Het
Lpin2	A	G	17: 71,537,268 (GRCm39)	T234A	probably benign	Het
Lysmd2	C	A	9: 75,542,885 (GRCm39)	P164Q	probably benign	Het
Maea	T	A	5: 33,526,027 (GRCm39)	D234E	probably benign	Het
Map4k1	T	A	7: 28,699,445 (GRCm39)	V572E	probably damaging	Het
Med6	C	T	12: 81,620,733 (GRCm39)	G166R	probably null	Het
Mtmr10	T	C	7: 63,987,458 (GRCm39)	I666T	probably damaging	Het
Myh14	T	A	7: 44,262,887 (GRCm39)	K1777M	probably benign	Het
Naip6	G	T	13: 100,436,724 (GRCm39)	Q600K	probably benign	Het
Obscn	A	G	11: 58,923,517 (GRCm39)	S6461P	probably damaging	Het
Or1j4	T	C	2: 36,740,061 (GRCm39)	M1T	probably null	Het
Osbpl7	T	A	11: 96,956,658 (GRCm39)	V567E	probably damaging	Het
Rad51ap2	A	T	12: 11,506,921 (GRCm39)	D281V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpl24	C	A	16: 55,787,516 (GRCm39)	H59N	possibly damaging	Het
Rtl1	G	A	12: 109,559,053 (GRCm39)	L929F	possibly damaging	Het
Runx3	C	T	4: 134,890,575 (GRCm39)	T159I	probably damaging	Het
Serpine2	T	C	1: 79,794,637 (GRCm39)	I99V	probably benign	Het
Slc12a6	C	A	2: 112,115,067 (GRCm39)	P12Q	probably benign	Het
Slc25a18	T	C	6: 120,769,035 (GRCm39)	L184P	probably damaging	Het
Smg1	T	C	7: 117,812,120 (GRCm39)	D57G	probably benign	Het
Spdye4c	T	A	2: 128,438,761 (GRCm39)	*340K	probably null	Het
Srsf5	G	A	12: 80,996,311 (GRCm39)	E162K	possibly damaging	Het
Ssc5d	T	C	7: 4,939,817 (GRCm39)	V751A	probably benign	Het
Tcf3	T	C	10: 80,255,333 (GRCm39)	N157S	probably benign	Het
Tdrd7	T	C	4: 45,989,082 (GRCm39)	V71A	probably benign	Het
Tex14	T	C	11: 87,405,121 (GRCm39)	C678R	probably damaging	Het
Tgm3	A	T	2: 129,868,704 (GRCm39)	K214*	probably null	Het
Vps53	A	G	11: 75,953,833 (GRCm39)	I659T	probably benign	Het
Zfp597	A	T	16: 3,684,023 (GRCm39)	C244*	probably null	Het
Zfp933	T	A	4: 147,912,864 (GRCm39)		probably null	Het

Other mutations in 4930578I06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03085:4930578I06Rik	APN	14	64,208,881 (GRCm39)	missense	probably benign	0.14
R0372:4930578I06Rik	UTSW	14	64,210,931 (GRCm39)	missense	probably damaging	0.98
R0610:4930578I06Rik	UTSW	14	64,223,714 (GRCm39)	nonsense	probably null
R1055:4930578I06Rik	UTSW	14	64,210,724 (GRCm39)	missense	possibly damaging	0.69
R1671:4930578I06Rik	UTSW	14	64,210,637 (GRCm39)	missense	probably benign	0.41
R1888:4930578I06Rik	UTSW	14	64,223,632 (GRCm39)	missense	probably damaging	0.99
R1888:4930578I06Rik	UTSW	14	64,223,632 (GRCm39)	missense	probably damaging	0.99
R2327:4930578I06Rik	UTSW	14	64,208,569 (GRCm39)	splice site	probably null
R4243:4930578I06Rik	UTSW	14	64,210,658 (GRCm39)	missense	probably benign
R4256:4930578I06Rik	UTSW	14	64,210,658 (GRCm39)	missense	probably benign
R4257:4930578I06Rik	UTSW	14	64,210,658 (GRCm39)	missense	probably benign
R4354:4930578I06Rik	UTSW	14	64,210,658 (GRCm39)	missense	probably benign
R4863:4930578I06Rik	UTSW	14	64,210,658 (GRCm39)	missense	probably benign
R4864:4930578I06Rik	UTSW	14	64,210,658 (GRCm39)	missense	probably benign
R6240:4930578I06Rik	UTSW	14	64,223,701 (GRCm39)	missense	probably damaging	1.00
R6849:4930578I06Rik	UTSW	14	64,223,688 (GRCm39)	missense	probably benign	0.12
R6849:4930578I06Rik	UTSW	14	64,223,687 (GRCm39)	missense	probably damaging	1.00
R8260:4930578I06Rik	UTSW	14	64,223,633 (GRCm39)	missense	probably benign	0.01
R8305:4930578I06Rik	UTSW	14	64,208,844 (GRCm39)	missense	possibly damaging	0.75
R8336:4930578I06Rik	UTSW	14	64,223,545 (GRCm39)	missense	probably benign
R8939:4930578I06Rik	UTSW	14	64,225,162 (GRCm39)	missense	probably benign	0.26
R9407:4930578I06Rik	UTSW	14	64,223,629 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACCAGTGCAGATAGTGAAGG -3'
(R):5'- TAATGTCACCCACCTGCTGG -3'

Sequencing Primer
(F):5'- TGCAGATAGTGAAGGAGGCTTG -3'
(R):5'- GACTATTCCCATAACACTTTCATCAG -3'

Posted On

2016-12-15