Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:4931408C20Rik'

595470

Institutional Source

Beutler Lab

Gene Symbol

4931408C20Rik

Ensembl Gene

ENSMUSG00000073722

Gene Name

RIKEN cDNA 4931408C20 gene

Synonyms

MMRRC Submission

045782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26681814-26687460 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26684498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 534 (A534S)

Ref Sequence

ENSEMBL: ENSMUSP00000095410 (fasta)

Gene Model

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

AlphaFold

E9PWP9

Predicted Effect

probably benign
Transcript: ENSMUST00000097801
AA Change: A534S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: A534S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230050P20Rik	T	C	9: 20,873,165	Y182H	possibly damaging	Het
Adam34	T	G	8: 43,651,171	N479T	probably damaging	Het
Add3	C	G	19: 53,239,461	L526V	probably damaging	Het
Alas1	T	C	9: 106,246,951	T3A	probably benign	Het
Arap3	C	T	18: 37,989,467	D579N	probably damaging	Het
Armc6	C	A	8: 70,222,598	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 86,944,385	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,702,072	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,662,598	D112E	probably benign	Het
Brf1	T	G	12: 112,964,245	K438T	probably benign	Het
Cabs1	A	T	5: 87,980,286	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,553,075	M1937L	probably benign	Het
Cd55b	A	T	1: 130,411,493	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,302,214	*120W	probably null	Het
Col17a1	C	A	19: 47,655,190		probably null	Het
Cpne8	A	T	15: 90,501,418	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,302,251	S337*	probably null	Het
Cx3cl1	T	C	8: 94,780,239	S291P	probably damaging	Het
Dhx36	G	T	3: 62,488,968	Q423K	probably benign	Het
Eif3h	G	T	15: 51,786,823	Q322K	possibly damaging	Het
Ero1lb	A	G	13: 12,605,833	*494W	probably null	Het
Exph5	G	A	9: 53,373,175	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam208a	C	A	14: 27,447,497	N338K	probably damaging	Het
Fam222b	A	G	11: 78,153,751	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,535,886	R509L	probably damaging	Het
Fgf14	T	C	14: 124,136,244	Y86C	probably damaging	Het
Fras1	A	T	5: 96,712,451	I2119F	probably benign	Het
Gm14085	A	G	2: 122,486,733	E25G	probably damaging	Het
Gpr37	G	A	6: 25,669,117	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,831,280	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,757,456	N342S	probably benign	Het
Kcnh6	T	C	11: 106,017,575	V339A	probably benign	Het
Klk1b9	A	T	7: 43,978,416	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,939,838	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428	Y306*	probably null	Het
Manba	C	T	3: 135,518,009	T219M	probably benign	Het
Mastl	T	C	2: 23,140,795		probably null	Het
Med15	T	G	16: 17,655,174	M550L	possibly damaging	Het
Men1	G	A	19: 6,337,282		probably null	Het
Mettl11b	A	G	1: 163,703,184	C229R	probably benign	Het
Msh4	C	T	3: 153,866,320		probably null	Het
Myh6	G	T	14: 54,965,365	D32E	probably damaging	Het
Ntn4	A	G	10: 93,733,682	D419G	possibly damaging	Het
Nup155	C	T	15: 8,122,139	P393S	probably damaging	Het
Olfr1389	T	A	11: 49,430,900	C141*	probably null	Het
Olfr1415	A	T	1: 92,491,307	F149L	probably benign	Het
Palm2	C	T	4: 57,709,876	P274S	probably damaging	Het
Papss2	A	T	19: 32,634,003		probably null	Het
Pcdhgc3	T	C	18: 37,806,879	V111A	possibly damaging	Het
Pcnx2	C	T	8: 125,850,330	V988I	probably benign	Het
Pom121	C	T	5: 135,378,148	G1178S	probably damaging	Het
Prss33	A	G	17: 23,834,229	C213R	probably damaging	Het
Scap	G	A	9: 110,378,367		probably null	Het
Sirpb1c	T	A	3: 15,848,386	I10F	possibly damaging	Het
Spink5	T	C	18: 43,963,352	L16P	probably damaging	Het
Stk4	T	G	2: 164,110,226	M1R	probably null	Het
Stub1	A	T	17: 25,831,132	Y253*	probably null	Het
Tbce	A	G	13: 14,029,290	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,471,758	R590G	probably benign	Het
Tmem173	C	T	18: 35,735,265	A261T	probably damaging	Het
Ubr4	C	T	4: 139,458,920	P613L	unknown	Het
Vmn2r3	G	T	3: 64,275,518	C253*	probably null	Het
Wfdc8	C	A	2: 164,599,986	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,473,856	D441G	probably benign	Het
Zscan4d	G	T	7: 11,165,242	P36Q	possibly damaging	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
R1398:4931408C20Rik	UTSW	1	26685341	missense	possibly damaging	0.82
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
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'- GCACTCAAGCAGGAATGTCC -3'
(R):5'- GTAGAAGGAGATTACTCGGTGTTTC -3'

Sequencing Primer
(F):5'- ATGTCCTGAGGGTACATCTTCAGAC -3'
(R):5'- ACTCGGTGTTTCCAAGGC -3'

Posted On

2019-11-12