Mutagenetix > Incidental Mutations

Incidental Mutation 'R5209:4932415D10Rik'

403050

Institutional Source

Beutler Lab

Gene Symbol

4932415D10Rik

Ensembl Gene

ENSMUSG00000044581

Gene Name

RIKEN cDNA 4932415D10 gene

Synonyms

MMRRC Submission

042784-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5209 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82282116-82316582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82283818 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 4453 (T4453A)

Ref Sequence

ENSEMBL: ENSMUSP00000151425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171401] [ENSMUST00000217661]

Predicted Effect

probably benign
Transcript: ENSMUST00000171401
AA Change: T483A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126178
Gene: ENSMUSG00000044581
AA Change: T483A

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	241	263	N/A	INTRINSIC
low complexity region	387	405	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217661
AA Change: T4453A

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,232,907	V500A	probably benign	Het
Abcg4	A	G	9: 44,275,375	Y491H	probably damaging	Het
Adgb	C	A	10: 10,398,937	V759L	possibly damaging	Het
Adprhl1	T	A	8: 13,242,563	K243*	probably null	Het
Arhgap24	T	A	5: 102,892,149	D317E	probably benign	Het
Arhgef5	A	T	6: 43,273,700	I462F	probably benign	Het
Birc6	A	C	17: 74,670,374	N4388T	probably damaging	Het
Btbd18	A	G	2: 84,668,099	T694A	possibly damaging	Het
Ces1d	A	T	8: 93,175,188		probably benign	Het
Chmp2a	C	A	7: 13,032,674	V106F	probably damaging	Het
Cinp	T	C	12: 110,874,060	E219G	probably benign	Het
Col5a3	C	T	9: 20,778,643		probably benign	Het
Dnhd1	T	G	7: 105,696,460	S2271A	probably benign	Het
Epg5	T	A	18: 77,951,282	L376H	probably damaging	Het
Fam81a	T	C	9: 70,125,160	T17A	probably benign	Het
Fgd2	T	A	17: 29,368,376		probably null	Het
Gjc3	C	T	5: 137,957,271	V251I	probably benign	Het
Gnaz	T	G	10: 74,991,991	F192V	probably benign	Het
Hmgcr	T	C	13: 96,666,512		probably benign	Het
Mamdc4	G	T	2: 25,566,923	A614E	probably damaging	Het
Mapk8ip2	A	T	15: 89,459,287	Q713L	probably damaging	Het
Mettl1	T	C	10: 127,045,334	V238A	possibly damaging	Het
Ms4a4c	G	A	19: 11,416,438	G74E	probably damaging	Het
Msh3	A	G	13: 92,344,954		probably null	Het
Mtmr14	T	A	6: 113,253,775	Y113*	probably null	Het
Mylk	T	C	16: 34,922,625	L1169P	possibly damaging	Het
Npr3	A	G	15: 11,848,603	V426A	possibly damaging	Het
Olfr105-ps	T	C	17: 37,382,830	S88P	probably damaging	Het
Olfr221	T	C	14: 52,035,953	T53A	probably benign	Het
Olfr771	A	C	10: 129,160,932	D17E	possibly damaging	Het
Olfr905	T	A	9: 38,473,521	M258K	possibly damaging	Het
Pcdhb17	T	C	18: 37,487,461	F768S	probably damaging	Het
Piezo2	T	C	18: 63,032,929	N2077S	probably damaging	Het
Pkd1l2	G	A	8: 117,056,442	P713L	probably benign	Het
Primpol	T	C	8: 46,590,260	T333A	probably benign	Het
Pth2r	A	T	1: 65,388,697	T510S	probably benign	Het
Ptprr	A	T	10: 116,162,609	E208V	probably damaging	Het
Rag1	T	C	2: 101,644,215	Y194C	probably benign	Het
Reep5	A	T	18: 34,357,240		probably null	Het
Rexo5	T	A	7: 119,834,299	Y493*	probably null	Het
Rgs9	T	C	11: 109,239,594		probably null	Het
Rps6ka1	A	T	4: 133,865,818	V218D	probably damaging	Het
Satb1	A	T	17: 51,809,207	M16K	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slfn14	A	G	11: 83,279,633	F395S	possibly damaging	Het
Sptbn5	T	A	2: 120,072,002	I82F	probably benign	Het
Stam	T	A	2: 14,146,347	I505K	probably benign	Het
Tesk2	G	A	4: 116,724,698		probably benign	Het
Trappc12	T	C	12: 28,737,794	K430R	probably benign	Het
Trmo	T	C	4: 46,387,740	N34D	probably damaging	Het
Ubr2	C	A	17: 46,968,424	C686F	probably damaging	Het
Vdac1	C	T	11: 52,376,452	T60I	probably damaging	Het
Zfp652	G	C	11: 95,763,665	R478P	possibly damaging	Het

Other mutations in 4932415D10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:4932415D10Rik	APN	10	82283752	missense	probably benign	0.06
IGL01457:4932415D10Rik	APN	10	82284734	missense	probably damaging	1.00
IGL01540:4932415D10Rik	APN	10	82284182	missense	possibly damaging	0.87
IGL02693:4932415D10Rik	APN	10	82285258	missense	probably benign	0.06
IGL02867:4932415D10Rik	APN	10	82283820	missense	probably damaging	0.96
IGL02889:4932415D10Rik	APN	10	82283820	missense	probably damaging	0.96
IGL03080:4932415D10Rik	APN	10	82283982	missense	probably damaging	0.99
IGL03120:4932415D10Rik	APN	10	82285035	missense	possibly damaging	0.90
IGL03351:4932415D10Rik	APN	10	82283567	utr 3 prime	probably benign
FR4449:4932415D10Rik	UTSW	10	82285469	frame shift	probably null
FR4548:4932415D10Rik	UTSW	10	82290996	small insertion	probably benign
FR4737:4932415D10Rik	UTSW	10	82285469	small deletion	probably benign
PIT4480001:4932415D10Rik	UTSW	10	82283752	missense	probably benign	0.06
R0102:4932415D10Rik	UTSW	10	82283556	missense	probably damaging	1.00
R0312:4932415D10Rik	UTSW	10	82284369	missense	probably damaging	1.00
R1303:4932415D10Rik	UTSW	10	82284556	missense	possibly damaging	0.94
R2039:4932415D10Rik	UTSW	10	82284676	missense	probably damaging	1.00
R2356:4932415D10Rik	UTSW	10	82283955	missense	possibly damaging	0.94
R4740:4932415D10Rik	UTSW	10	82283647	missense	possibly damaging	0.50
R4857:4932415D10Rik	UTSW	10	82283848	missense	possibly damaging	0.61
R5017:4932415D10Rik	UTSW	10	82296676	missense	unknown
R5095:4932415D10Rik	UTSW	10	82283667	missense	probably damaging	1.00
R5388:4932415D10Rik	UTSW	10	82283727	missense	probably damaging	0.99
R5642:4932415D10Rik	UTSW	10	82284483	missense	probably damaging	1.00
R5646:4932415D10Rik	UTSW	10	82283776	missense	probably damaging	0.99
R6188:4932415D10Rik	UTSW	10	82285257	missense	probably damaging	0.96
R6215:4932415D10Rik	UTSW	10	82291112	missense	probably benign	0.07
R6252:4932415D10Rik	UTSW	10	82283754	missense	probably benign	0.30
R6275:4932415D10Rik	UTSW	10	82285368	missense	probably damaging	1.00
R6303:4932415D10Rik	UTSW	10	82290368	missense	possibly damaging	0.79
R6304:4932415D10Rik	UTSW	10	82290368	missense	possibly damaging	0.79
R6313:4932415D10Rik	UTSW	10	82293636	missense	probably benign	0.00
R6323:4932415D10Rik	UTSW	10	82283082	missense	probably benign	0.27
R6374:4932415D10Rik	UTSW	10	82288897	unclassified	probably benign
R6407:4932415D10Rik	UTSW	10	82293811	missense	probably benign	0.16
R6468:4932415D10Rik	UTSW	10	82295316	missense	probably benign	0.01
R6490:4932415D10Rik	UTSW	10	82289304	missense	possibly damaging	0.90
R6605:4932415D10Rik	UTSW	10	82296037	missense	probably benign	0.27
R6614:4932415D10Rik	UTSW	10	82291648	missense	probably benign	0.31
R6626:4932415D10Rik	UTSW	10	82292833	missense	probably benign	0.03
R6630:4932415D10Rik	UTSW	10	82287072	missense	possibly damaging	0.81
R6646:4932415D10Rik	UTSW	10	82296830	missense	unknown
R6723:4932415D10Rik	UTSW	10	82289823	missense	possibly damaging	0.50
R6751:4932415D10Rik	UTSW	10	82283497	missense	probably benign	0.06
R6850:4932415D10Rik	UTSW	10	82293054	missense	possibly damaging	0.68
R6944:4932415D10Rik	UTSW	10	82296222	missense	probably benign	0.03
R6957:4932415D10Rik	UTSW	10	82293786	missense	probably benign	0.03
R6988:4932415D10Rik	UTSW	10	82291899	missense	possibly damaging	0.79
R7069:4932415D10Rik	UTSW	10	82289943	missense	probably damaging	0.99
R7164:4932415D10Rik	UTSW	10	82286229	missense	probably damaging	1.00
R7175:4932415D10Rik	UTSW	10	82286749	missense	probably damaging	1.00
R7201:4932415D10Rik	UTSW	10	82291627	missense	probably benign	0.03
R7203:4932415D10Rik	UTSW	10	82293414	missense	probably benign	0.00
R7205:4932415D10Rik	UTSW	10	82289327	missense	probably benign	0.35
R7241:4932415D10Rik	UTSW	10	82287042	missense	probably benign	0.01
R7283:4932415D10Rik	UTSW	10	82291297	missense	possibly damaging	0.90
R7305:4932415D10Rik	UTSW	10	82285119	missense	probably benign	0.06
R7358:4932415D10Rik	UTSW	10	82292013	missense	possibly damaging	0.79
R7360:4932415D10Rik	UTSW	10	82296507	missense	unknown
R7362:4932415D10Rik	UTSW	10	82292997	missense	possibly damaging	0.79
R7385:4932415D10Rik	UTSW	10	82287737	missense	probably benign	0.03
R7385:4932415D10Rik	UTSW	10	82287895	missense	probably benign	0.05
R7472:4932415D10Rik	UTSW	10	82283587	missense	probably benign	0.03
R7493:4932415D10Rik	UTSW	10	82288964	nonsense	probably null
R7493:4932415D10Rik	UTSW	10	82316430	missense	unknown
R7498:4932415D10Rik	UTSW	10	82291279	missense	probably benign	0.03
R7512:4932415D10Rik	UTSW	10	82292635	missense	probably benign	0.31
R7560:4932415D10Rik	UTSW	10	82284615	missense	probably damaging	1.00
R7591:4932415D10Rik	UTSW	10	82292212	missense	probably benign	0.16
R7636:4932415D10Rik	UTSW	10	82295139	missense	probably benign	0.01
R7640:4932415D10Rik	UTSW	10	82294656	missense	probably damaging	0.99
R7709:4932415D10Rik	UTSW	10	82290532	missense	possibly damaging	0.81
R7790:4932415D10Rik	UTSW	10	82287495	missense	probably benign	0.06
R7875:4932415D10Rik	UTSW	10	82287622	missense	possibly damaging	0.79
R7878:4932415D10Rik	UTSW	10	82284022	missense	probably benign	0.04
R7899:4932415D10Rik	UTSW	10	82282897	missense	unknown
R7905:4932415D10Rik	UTSW	10	82296102	missense	probably benign	0.03
R7975:4932415D10Rik	UTSW	10	82283989	missense	possibly damaging	0.95
R7988:4932415D10Rik	UTSW	10	82296100	missense	probably benign	0.03
R8076:4932415D10Rik	UTSW	10	82296686	nonsense	probably null
R8144:4932415D10Rik	UTSW	10	82294599	nonsense	probably null
R8429:4932415D10Rik	UTSW	10	82289467	missense	possibly damaging	0.62
R8465:4932415D10Rik	UTSW	10	82316464	missense	possibly damaging	0.52
R8470:4932415D10Rik	UTSW	10	82290480	missense	probably damaging	1.00
R8509:4932415D10Rik	UTSW	10	82291116	missense	probably benign	0.01
R8515:4932415D10Rik	UTSW	10	82288602	missense	probably benign	0.00
R8672:4932415D10Rik	UTSW	10	82291892	missense	probably benign	0.01
RF017:4932415D10Rik	UTSW	10	82290992	small insertion	probably benign
RF055:4932415D10Rik	UTSW	10	82290993	small insertion	probably benign
Z1176:4932415D10Rik	UTSW	10	82282537	missense	unknown
Z1176:4932415D10Rik	UTSW	10	82289896	missense	possibly damaging	0.94
Z1176:4932415D10Rik	UTSW	10	82293228	missense	probably benign	0.03
Z1177:4932415D10Rik	UTSW	10	82285798	missense	possibly damaging	0.46
Z1177:4932415D10Rik	UTSW	10	82287126	missense	possibly damaging	0.85
Z1177:4932415D10Rik	UTSW	10	82287417	missense	probably damaging	0.99
Z1177:4932415D10Rik	UTSW	10	82289686	nonsense	probably null
Z1187:4932415D10Rik	UTSW	10	82288556	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACAGTTCTGTGTGCTGC -3'
(R):5'- TGTACAAGTCCACACGCAGC -3'

Sequencing Primer
(F):5'- TGCTTGGAATGCCTGCC -3'
(R):5'- CCATAGTGTGGCAGGAAAGAC -3'

Posted On

2016-07-22