Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:4931440F15Rik'

710495

Institutional Source

Beutler Lab

Gene Symbol

4931440F15Rik

Ensembl Gene

ENSMUSG00000078157

Gene Name

RIKEN cDNA 4931440F15 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29822395-29825668 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29825107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 117 (S117P)

Ref Sequence

ENSEMBL: ENSMUSP00000100568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058902] [ENSMUST00000104962]

AlphaFold

Q8C0T1

Predicted Effect

probably benign
Transcript: ENSMUST00000058902

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
WD40	49	91	1.79e-1	SMART
WD40	94	136	1.42e-4	SMART
WD40	139	178	5.31e-4	SMART
WD40	184	224	8.84e1	SMART
WD40	225	263	3.75e-4	SMART
WD40	313	353	4.69e-5	SMART
WD40	356	394	2.22e0	SMART
WD40	397	436	1.72e0	SMART
WD40	505	546	1.7e2	SMART
WD40	552	592	4.55e-3	SMART
low complexity region	613	625	N/A	INTRINSIC
Pfam:HELP	653	715	1.9e-22	PFAM
WD40	716	757	9.24e-1	SMART
WD40	760	802	6.53e-4	SMART
WD40	805	844	2.98e-1	SMART
WD40	856	891	8.52e1	SMART
WD40	892	929	2.09e-2	SMART
WD40	986	1026	1.18e-1	SMART
WD40	1032	1068	3.44e0	SMART
WD40	1071	1111	2.58e-1	SMART
WD40	1180	1221	9.24e-1	SMART
WD40	1227	1267	3.85e-1	SMART
low complexity region	1280	1291	N/A	INTRINSIC
Pfam:HELP	1329	1402	5e-15	PFAM
WD40	1404	1447	2.66e0	SMART
WD40	1450	1492	1.85e0	SMART
WD40	1495	1534	2.97e0	SMART
WD40	1543	1582	7.1e1	SMART
WD40	1584	1629	9.51e1	SMART
WD40	1675	1715	3.05e-4	SMART
WD40	1718	1758	8.84e1	SMART
WD40	1759	1798	7.16e-1	SMART
WD40	1869	1910	1.53e1	SMART
WD40	1916	1956	4.62e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000104962
AA Change: S117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100568
Gene: ENSMUSG00000078157
AA Change: S117P

Domain	Start	End	E-Value	Type
ANK	19	50	1.53e3	SMART
ANK	57	87	1.7e-3	SMART
ANK	99	128	3.6e-2	SMART
ANK	132	162	3.31e-1	SMART
ANK	166	195	8.19e-6	SMART
ANK	199	228	7.83e-3	SMART
ANK	231	260	1.8e-2	SMART
low complexity region	297	306	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
ANK	536	578	8.39e-3	SMART
ANK	582	611	3.91e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109452

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	probably damaging	Het

Other mutations in 4931440F15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:4931440F15Rik	APN	11	29824755	missense	probably damaging	1.00
IGL01560:4931440F15Rik	APN	11	29824643	nonsense	probably null
IGL02160:4931440F15Rik	APN	11	29823593	nonsense	probably null
IGL03058:4931440F15Rik	APN	11	29824656	missense	probably benign	0.01
IGL03107:4931440F15Rik	APN	11	29824360	missense	probably damaging	1.00
R0504:4931440F15Rik	UTSW	11	29824990	missense	probably damaging	1.00
R0615:4931440F15Rik	UTSW	11	29824515	missense	probably damaging	1.00
R1167:4931440F15Rik	UTSW	11	29823567	missense	probably damaging	1.00
R1329:4931440F15Rik	UTSW	11	29823553	missense	probably benign	0.01
R1525:4931440F15Rik	UTSW	11	29823994	missense	probably benign	0.11
R1745:4931440F15Rik	UTSW	11	29824723	missense	probably benign
R1917:4931440F15Rik	UTSW	11	29824039	missense	probably benign	0.00
R1918:4931440F15Rik	UTSW	11	29824039	missense	probably benign	0.00
R2338:4931440F15Rik	UTSW	11	29823718	missense	probably benign	0.01
R4359:4931440F15Rik	UTSW	11	29824669	missense	probably benign	0.12
R4757:4931440F15Rik	UTSW	11	29825454	start codon destroyed	probably null	1.00
R4859:4931440F15Rik	UTSW	11	29825178	missense	probably damaging	1.00
R5595:4931440F15Rik	UTSW	11	29824288	missense	probably benign	0.00
R7084:4931440F15Rik	UTSW	11	29825009	missense	probably damaging	0.99
R7447:4931440F15Rik	UTSW	11	29824122	missense	probably benign
R8098:4931440F15Rik	UTSW	11	29824450	missense	possibly damaging	0.78
R8825:4931440F15Rik	UTSW	11	29823696	missense	probably benign	0.00
R9418:4931440F15Rik	UTSW	11	29824632	missense	probably damaging	0.98
R9784:4931440F15Rik	UTSW	11	29825253	missense	probably damaging	1.00
Z1088:4931440F15Rik	UTSW	11	29825007	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCCAGATTCTGCACAGTC -3'
(R):5'- GAGTATCTGGTGGACCACTG -3'

Sequencing Primer
(F):5'- CACAGTCGTGCAGGGCG -3'
(R):5'- GATGGCGAGACCATCGA -3'

Posted On

2022-04-18