Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:4931408C20Rik'

160208

Institutional Source

Beutler Lab

Gene Symbol

4931408C20Rik

Ensembl Gene

ENSMUSG00000073722

Gene Name

RIKEN cDNA 4931408C20 gene

Synonyms

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26681814-26687460 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 26685341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 253 (Q253K)

Ref Sequence

ENSEMBL: ENSMUSP00000095410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097801]

AlphaFold

E9PWP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097801
AA Change: Q253K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: Q253K

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:FAM75	128	474	4.6e-28	PFAM
internal_repeat_1	939	1112	4.27e-16	PROSPERO
internal_repeat_1	1204	1376	4.27e-16	PROSPERO

Meta Mutation Damage Score

0.1456

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,380,297	Y69C	probably damaging	Het
Abca17	T	C	17: 24,328,537	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,256,736		probably null	Het
Anks1b	A	G	10: 90,050,029	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,295,296		probably benign	Het
C4b	T	A	17: 34,730,719		probably benign	Het
Cacna2d1	G	A	5: 16,357,766	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,781,971		probably benign	Het
Cep63	A	T	9: 102,603,086		probably benign	Het
Chil4	T	A	3: 106,219,509		probably null	Het
Cnot11	A	G	1: 39,545,180	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,638,625	S254P	probably damaging	Het
Dnah11	T	A	12: 118,057,106	K87*	probably null	Het
Dpy19l2	T	A	9: 24,581,263		probably benign	Het
Dsc1	A	T	18: 20,088,336	I694N	probably damaging	Het
Ehd4	A	T	2: 120,127,600	I168K	probably benign	Het
Eif4e	A	T	3: 138,546,375	N25Y	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Fam160b1	T	A	19: 57,372,926		probably benign	Het
Fgfrl1	T	A	5: 108,706,281		probably benign	Het
Gm3159	T	A	14: 4,398,586	Y92*	probably null	Het
Gm4922	T	A	10: 18,783,748	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,714,262		probably benign	Het
Grsf1	A	G	5: 88,665,847	Y231H	probably benign	Het
Heatr4	T	A	12: 83,967,621	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Isg20l2	C	A	3: 87,938,754	L325I	probably benign	Het
Kalrn	A	G	16: 34,212,820	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,436,226	W318L	probably damaging	Het
Kctd1	T	C	18: 15,062,597	E323G	possibly damaging	Het
Kif4	G	T	X: 100,689,097	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,627,732	T151A	unknown	Het
Ldlr	A	T	9: 21,739,542	Q449L	probably benign	Het
Lepr	T	A	4: 101,792,019	D872E	probably damaging	Het
Lgals12	C	T	19: 7,603,957		probably benign	Het
Lrig3	C	T	10: 126,003,088	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,462,452	I583L	probably benign	Het
Lyst	T	C	13: 13,740,536	S3272P	possibly damaging	Het
March2	T	C	17: 33,696,122	H166R	probably damaging	Het
Mtbp	C	A	15: 55,577,537	Y373*	probably null	Het
Myh2	C	T	11: 67,185,287	H767Y	probably benign	Het
Ncam1	G	A	9: 49,517,589		probably benign	Het
Neb	T	A	2: 52,289,646	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,448,756	Y428H	possibly damaging	Het
Nrros	A	T	16: 32,143,144	I649N	probably damaging	Het
Nvl	A	T	1: 181,097,126		probably benign	Het
Olfr495	T	A	7: 108,395,501	V127E	probably damaging	Het
Pms1	A	T	1: 53,207,276	V368E	possibly damaging	Het
Polq	T	A	16: 37,062,495	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,542,879	V31A	probably damaging	Het
Rev3l	T	A	10: 39,821,583	V692E	probably benign	Het
Robo4	T	C	9: 37,408,076		probably null	Het
Rps6kc1	T	C	1: 190,800,015	I597V	probably damaging	Het
Rtel1	T	A	2: 181,335,865		probably null	Het
Scn9a	A	G	2: 66,484,586	M1587T	probably benign	Het
Sec31b	T	A	19: 44,523,665	I597F	probably benign	Het
Skint5	T	C	4: 113,779,071	N650S	unknown	Het
Slc22a28	G	T	19: 8,130,202	S167*	probably null	Het
Slfn1	T	A	11: 83,121,142	M28K	probably damaging	Het
Smc6	T	C	12: 11,271,879		probably benign	Het
Sox8	T	C	17: 25,567,883	H282R	probably benign	Het
Syngr3	C	A	17: 24,686,440	V161L	probably benign	Het
Trak1	C	T	9: 121,454,359	S397F	probably damaging	Het
Uso1	C	T	5: 92,181,468	A405V	probably benign	Het
Uvrag	G	T	7: 99,065,820	Y190*	probably null	Het
Vps13d	A	T	4: 145,099,983	L1726Q	probably null	Het
Vwf	A	T	6: 125,603,457	Q556L	probably benign	Het
Wdr70	T	A	15: 8,035,844	M246L	probably benign	Het
Yipf3	T	C	17: 46,251,446	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,826,873	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,627,297	F125L	probably benign	Het

Other mutations in 4931408C20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:4931408C20Rik	APN	1	26684977	missense	probably benign	0.00
IGL00575:4931408C20Rik	APN	1	26682932	missense	possibly damaging	0.51
IGL00656:4931408C20Rik	APN	1	26682901	missense	possibly damaging	0.71
IGL00671:4931408C20Rik	APN	1	26684859	missense	possibly damaging	0.50
IGL00777:4931408C20Rik	APN	1	26682092	missense	probably damaging	1.00
IGL00824:4931408C20Rik	APN	1	26683589	missense	possibly damaging	0.48
IGL01018:4931408C20Rik	APN	1	26682910	missense	probably damaging	0.99
IGL01148:4931408C20Rik	APN	1	26685172	missense	probably benign	0.22
IGL01631:4931408C20Rik	APN	1	26685414	missense	probably damaging	0.98
IGL01901:4931408C20Rik	APN	1	26682584	missense	probably benign	0.13
IGL01957:4931408C20Rik	APN	1	26685259	missense	probably damaging	0.98
IGL02031:4931408C20Rik	APN	1	26685023	missense	probably damaging	0.99
IGL02596:4931408C20Rik	APN	1	26684002	missense	probably benign	0.00
PIT4486001:4931408C20Rik	UTSW	1	26685329	missense	probably damaging	0.99
R0026:4931408C20Rik	UTSW	1	26683369	missense	probably benign	0.00
R0026:4931408C20Rik	UTSW	1	26683369	missense	probably benign	0.00
R0043:4931408C20Rik	UTSW	1	26683802	missense	possibly damaging	0.72
R0141:4931408C20Rik	UTSW	1	26683782	missense	probably benign	0.00
R0145:4931408C20Rik	UTSW	1	26687332	missense	probably benign	0.00
R0158:4931408C20Rik	UTSW	1	26683951	missense	probably damaging	0.98
R0325:4931408C20Rik	UTSW	1	26685266	missense	possibly damaging	0.91
R0627:4931408C20Rik	UTSW	1	26685889	missense	probably benign	0.00
R0733:4931408C20Rik	UTSW	1	26682932	missense	possibly damaging	0.51
R1033:4931408C20Rik	UTSW	1	26682385	missense	probably benign
R1074:4931408C20Rik	UTSW	1	26683226	missense	probably benign	0.00
R1108:4931408C20Rik	UTSW	1	26682466	missense	possibly damaging	0.85
R1139:4931408C20Rik	UTSW	1	26682665	missense	probably benign	0.04
R1326:4931408C20Rik	UTSW	1	26683930	missense	probably damaging	1.00
R1422:4931408C20Rik	UTSW	1	26682466	missense	possibly damaging	0.85
R1463:4931408C20Rik	UTSW	1	26682141	nonsense	probably null
R1485:4931408C20Rik	UTSW	1	26685880	missense	possibly damaging	0.92
R1568:4931408C20Rik	UTSW	1	26685869	missense	probably benign	0.01
R1603:4931408C20Rik	UTSW	1	26685569	missense	probably damaging	0.99
R1605:4931408C20Rik	UTSW	1	26684430	missense	possibly damaging	0.92
R1795:4931408C20Rik	UTSW	1	26682989	nonsense	probably null
R1945:4931408C20Rik	UTSW	1	26682314	missense	probably benign	0.04
R1967:4931408C20Rik	UTSW	1	26683373	missense	probably benign	0.02
R2055:4931408C20Rik	UTSW	1	26685732	missense	possibly damaging	0.86
R2093:4931408C20Rik	UTSW	1	26682141	nonsense	probably null
R2131:4931408C20Rik	UTSW	1	26685854	missense	probably benign	0.11
R2237:4931408C20Rik	UTSW	1	26685160	missense	possibly damaging	0.82
R2314:4931408C20Rik	UTSW	1	26684702	missense	probably benign	0.00
R2407:4931408C20Rik	UTSW	1	26682838	missense	possibly damaging	0.86
R2993:4931408C20Rik	UTSW	1	26685828	missense	possibly damaging	0.83
R4245:4931408C20Rik	UTSW	1	26682080	missense	probably benign	0.00
R4567:4931408C20Rik	UTSW	1	26683117	missense	probably benign
R4605:4931408C20Rik	UTSW	1	26683186	missense	probably benign	0.45
R4708:4931408C20Rik	UTSW	1	26684440	missense	possibly damaging	0.92
R4827:4931408C20Rik	UTSW	1	26685842	missense	possibly damaging	0.91
R4839:4931408C20Rik	UTSW	1	26685359	missense	probably benign	0.11
R4888:4931408C20Rik	UTSW	1	26683547	missense	probably benign	0.00
R5075:4931408C20Rik	UTSW	1	26683052	missense	probably damaging	0.99
R5101:4931408C20Rik	UTSW	1	26683336	missense	possibly damaging	0.92
R5231:4931408C20Rik	UTSW	1	26683951	missense	possibly damaging	0.79
R5310:4931408C20Rik	UTSW	1	26685088	missense	probably benign	0.00
R5459:4931408C20Rik	UTSW	1	26685191	missense	probably damaging	0.96
R5520:4931408C20Rik	UTSW	1	26685819	missense	probably benign	0.00
R5608:4931408C20Rik	UTSW	1	26683048	missense	probably damaging	0.97
R5960:4931408C20Rik	UTSW	1	26683144	missense	probably benign	0.34
R6128:4931408C20Rik	UTSW	1	26685425	missense	probably benign	0.38
R6188:4931408C20Rik	UTSW	1	26685703	missense	probably damaging	0.99
R6319:4931408C20Rik	UTSW	1	26685401	missense	probably benign	0.38
R6339:4931408C20Rik	UTSW	1	26682505	missense	probably benign	0.01
R6431:4931408C20Rik	UTSW	1	26684030	missense	probably benign	0.11
R6456:4931408C20Rik	UTSW	1	26685169	missense	probably damaging	0.99
R6562:4931408C20Rik	UTSW	1	26682362	missense	possibly damaging	0.91
R6645:4931408C20Rik	UTSW	1	26683117	missense	probably benign	0.06
R6647:4931408C20Rik	UTSW	1	26682578	missense	probably damaging	0.99
R6919:4931408C20Rik	UTSW	1	26682934	missense	probably benign	0.15
R7085:4931408C20Rik	UTSW	1	26683465	missense	possibly damaging	0.95
R7183:4931408C20Rik	UTSW	1	26682833	missense	probably benign	0.27
R7347:4931408C20Rik	UTSW	1	26684467	missense	probably benign	0.02
R7488:4931408C20Rik	UTSW	1	26683958	missense	possibly damaging	0.77
R7565:4931408C20Rik	UTSW	1	26685270	missense	probably benign	0.00
R7726:4931408C20Rik	UTSW	1	26684498	missense	probably benign	0.08
R8258:4931408C20Rik	UTSW	1	26682481	missense	probably benign	0.28
R8259:4931408C20Rik	UTSW	1	26682481	missense	probably benign	0.28
R8701:4931408C20Rik	UTSW	1	26685445	missense	probably benign	0.21
R8905:4931408C20Rik	UTSW	1	26682814	missense	probably damaging	0.97
R9137:4931408C20Rik	UTSW	1	26685634	missense	probably benign	0.13
R9138:4931408C20Rik	UTSW	1	26682172	missense	possibly damaging	0.90
R9170:4931408C20Rik	UTSW	1	26684404	missense	possibly damaging	0.93
R9287:4931408C20Rik	UTSW	1	26683345	missense	possibly damaging	0.51
R9331:4931408C20Rik	UTSW	1	26683709	missense	probably benign	0.00
R9535:4931408C20Rik	UTSW	1	26682151	nonsense	probably null
R9719:4931408C20Rik	UTSW	1	26683739	missense	probably benign	0.02
X0025:4931408C20Rik	UTSW	1	26682505	missense	probably benign	0.00
X0061:4931408C20Rik	UTSW	1	26682569	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AAGTTCCCTGAAGCTGTGTCAGTTC -3'
(R):5'- CATGTGACCCTGTTCAAGCTCTACC -3'

Sequencing Primer
(F):5'- ACAGAATCTGACATGGGTTCC -3'
(R):5'- TCAAGCTCTACCTCTGGCTAAAG -3'

Posted On

2014-03-14