Mutagenetix > Incidental Mutation

Incidental Mutation 'R3907:E130308A19Rik'

474624

Institutional Source

Beutler Lab

Gene Symbol

E130308A19Rik

Ensembl Gene

ENSMUSG00000045071

Gene Name

RIKEN cDNA E130308A19 gene

Synonyms

MMRRC Submission

040908-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R3907 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59626116-59757649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59752393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 502 (T502I)

Ref Sequence

ENSEMBL: ENSMUSP00000065702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070150]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070150
AA Change: T502I

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071
AA Change: T502I

Domain	Start	End	E-Value	Type
low complexity region	130	141	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
Pfam:DUF3504	532	687	4.5e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221633

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Ampd3	A	G	7: 110,392,877 (GRCm39)	D215G	possibly damaging	Het
Ank2	A	G	3: 126,810,547 (GRCm39)	L513P	probably damaging	Het
Apba1	T	C	19: 23,914,870 (GRCm39)	I690T	probably damaging	Het
Arid1a	T	C	4: 133,420,223 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asns	C	T	6: 7,682,270 (GRCm39)		probably null	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Asph	T	C	4: 9,474,934 (GRCm39)	K680R	probably benign	Het
Atp2b4	A	T	1: 133,666,324 (GRCm39)	S243T	probably damaging	Het
Cacna1s	T	A	1: 136,012,007 (GRCm39)	M483K	probably damaging	Het
Car4	G	A	11: 84,855,183 (GRCm39)	V141M	probably damaging	Het
Cct4	A	G	11: 22,951,560 (GRCm39)	I376V	probably benign	Het
Chrm4	C	T	2: 91,758,084 (GRCm39)	A164V	probably damaging	Het
Csf3r	A	T	4: 125,928,240 (GRCm39)	D291V	probably benign	Het
Dcaf6	A	T	1: 165,251,949 (GRCm39)	C58*	probably null	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Defb4	A	T	8: 19,251,277 (GRCm39)	Q48L	possibly damaging	Het
Dnaaf9	C	T	2: 130,578,496 (GRCm39)	A663T	probably damaging	Het
Duox2	C	T	2: 122,113,541 (GRCm39)		probably null	Het
Ephb1	A	G	9: 101,878,925 (GRCm39)	C522R	probably benign	Het
Fam76a	T	C	4: 132,643,432 (GRCm39)	K101E	probably damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Fn1	C	T	1: 71,647,072 (GRCm39)	G1482R	probably damaging	Het
Gm10110	T	C	14: 90,135,583 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,540,716 (GRCm39)		probably benign	Het
Hars1	A	T	18: 36,915,769 (GRCm39)	D48E	probably benign	Het
Hmgcll1	G	A	9: 75,979,943 (GRCm39)	R111H	probably benign	Het
Ighv3-4	A	G	12: 114,217,538 (GRCm39)	S18P	probably damaging	Het
Iws1	G	A	18: 32,212,973 (GRCm39)	E134K	possibly damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Krt16	A	G	11: 100,137,989 (GRCm39)	V329A	possibly damaging	Het
Loxhd1	A	T	18: 77,496,464 (GRCm39)	M1575L	possibly damaging	Het
Mapkapk2	A	T	1: 130,984,651 (GRCm39)	S234T	probably damaging	Het
Mxd1	G	T	6: 86,627,942 (GRCm39)	Q199K	probably benign	Het
Nlrp5	T	A	7: 23,133,071 (GRCm39)	D905E	possibly damaging	Het
Or4c117	A	C	2: 88,955,927 (GRCm39)	Y49*	probably null	Het
Or6z7	A	T	7: 6,483,678 (GRCm39)	V159D	probably damaging	Het
Otoa	A	T	7: 120,724,788 (GRCm39)	Q489L	probably damaging	Het
Pced1b	T	C	15: 97,282,431 (GRCm39)	S157P	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,410 (GRCm39)	I345T	probably benign	Het
Prrt4	G	T	6: 29,177,173 (GRCm39)	L199M	probably damaging	Het
Ptpn6	T	C	6: 124,702,239 (GRCm39)	D347G	possibly damaging	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Rcan1	A	G	16: 92,262,917 (GRCm39)		probably benign	Het
Rif1	C	T	2: 52,002,557 (GRCm39)	L2004F	probably benign	Het
Rnf185	A	G	11: 3,376,681 (GRCm39)		probably benign	Het
Shank2	C	T	7: 143,963,313 (GRCm39)	P307L	probably damaging	Het
Slc19a3	G	A	1: 82,992,534 (GRCm39)	R396C	possibly damaging	Het
Stn1	T	C	19: 47,496,262 (GRCm39)	D321G	probably damaging	Het
Taar7a	T	C	10: 23,868,457 (GRCm39)	Y308C	probably benign	Het
Tespa1	T	C	10: 130,192,666 (GRCm39)		probably benign	Het
Tmcc2	T	C	1: 132,288,376 (GRCm39)	D359G	probably damaging	Het
Trhde	C	T	10: 114,636,601 (GRCm39)	G202E	possibly damaging	Het
Trip12	T	C	1: 84,709,827 (GRCm39)	T469A	possibly damaging	Het
Trip4	A	G	9: 65,740,708 (GRCm39)	I533T	probably benign	Het
Tsc22d1	T	C	14: 76,653,983 (GRCm39)	I154T	probably damaging	Het
Ttn	C	A	2: 76,733,686 (GRCm39)		probably benign	Het
Ugt8a	T	C	3: 125,708,631 (GRCm39)	T160A	possibly damaging	Het
Usp54	A	T	14: 20,636,181 (GRCm39)	S288T	probably damaging	Het
Utrn	C	T	10: 12,585,926 (GRCm39)		probably benign	Het

Other mutations in E130308A19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:E130308A19Rik	APN	4	59,737,743 (GRCm39)	splice site	probably benign
IGL00672:E130308A19Rik	APN	4	59,719,697 (GRCm39)	missense	probably benign	0.00
IGL00937:E130308A19Rik	APN	4	59,690,846 (GRCm39)	missense	probably benign	0.01
IGL01885:E130308A19Rik	APN	4	59,720,004 (GRCm39)	missense	probably benign	0.20
IGL02638:E130308A19Rik	APN	4	59,719,676 (GRCm39)	nonsense	probably null
H8562:E130308A19Rik	UTSW	4	59,691,033 (GRCm39)	missense	possibly damaging	0.70
R0044:E130308A19Rik	UTSW	4	59,690,290 (GRCm39)	missense	possibly damaging	0.86
R0523:E130308A19Rik	UTSW	4	59,719,716 (GRCm39)	missense	probably damaging	0.98
R0788:E130308A19Rik	UTSW	4	59,719,847 (GRCm39)	missense	possibly damaging	0.76
R1215:E130308A19Rik	UTSW	4	59,690,743 (GRCm39)	missense	probably benign	0.37
R1490:E130308A19Rik	UTSW	4	59,719,746 (GRCm39)	missense	probably damaging	0.99
R2292:E130308A19Rik	UTSW	4	59,690,579 (GRCm39)	missense	probably damaging	0.99
R4288:E130308A19Rik	UTSW	4	59,690,308 (GRCm39)	missense	probably benign	0.33
R4780:E130308A19Rik	UTSW	4	59,691,057 (GRCm39)	missense	probably benign	0.01
R4781:E130308A19Rik	UTSW	4	59,691,057 (GRCm39)	missense	probably benign	0.01
R4834:E130308A19Rik	UTSW	4	59,690,317 (GRCm39)	nonsense	probably null
R4985:E130308A19Rik	UTSW	4	59,691,017 (GRCm39)	missense	probably benign	0.01
R6123:E130308A19Rik	UTSW	4	59,737,565 (GRCm39)	missense	probably damaging	1.00
R6290:E130308A19Rik	UTSW	4	59,691,332 (GRCm39)	missense	probably benign	0.25
R6315:E130308A19Rik	UTSW	4	59,691,132 (GRCm39)	missense	probably benign
R6643:E130308A19Rik	UTSW	4	59,720,561 (GRCm39)	missense	possibly damaging	0.90
R6763:E130308A19Rik	UTSW	4	59,752,288 (GRCm39)	missense	probably damaging	0.99
R6980:E130308A19Rik	UTSW	4	59,719,991 (GRCm39)	missense	probably damaging	0.97
R7036:E130308A19Rik	UTSW	4	59,719,991 (GRCm39)	missense	probably damaging	0.97
R7078:E130308A19Rik	UTSW	4	59,737,688 (GRCm39)	missense	probably damaging	1.00
R7098:E130308A19Rik	UTSW	4	59,753,004 (GRCm39)	missense	possibly damaging	0.88
R7171:E130308A19Rik	UTSW	4	59,690,333 (GRCm39)	missense	probably damaging	1.00
R7247:E130308A19Rik	UTSW	4	59,690,502 (GRCm39)	missense	probably damaging	1.00
R7366:E130308A19Rik	UTSW	4	59,752,770 (GRCm39)	missense	probably damaging	0.99
R7916:E130308A19Rik	UTSW	4	59,719,841 (GRCm39)	missense	probably damaging	1.00
R8050:E130308A19Rik	UTSW	4	59,719,767 (GRCm39)	missense	probably damaging	1.00
R8445:E130308A19Rik	UTSW	4	59,720,526 (GRCm39)	missense	probably damaging	0.99
R8795:E130308A19Rik	UTSW	4	59,737,676 (GRCm39)	missense	possibly damaging	0.93
R9088:E130308A19Rik	UTSW	4	59,737,594 (GRCm39)	missense	probably benign	0.16
R9663:E130308A19Rik	UTSW	4	59,719,764 (GRCm39)	missense	possibly damaging	0.87
Z1176:E130308A19Rik	UTSW	4	59,720,313 (GRCm39)	missense	probably damaging	1.00
Z1177:E130308A19Rik	UTSW	4	59,720,223 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2017-04-14