Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:4931406P16Rik'

577804

Institutional Source

Beutler Lab

Gene Symbol

4931406P16Rik

Ensembl Gene

ENSMUSG00000066571

Gene Name

RIKEN cDNA 4931406P16 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34236707-34313551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34245671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 595 (S595P)

Ref Sequence

ENSEMBL: ENSMUSP00000082730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085592] [ENSMUST00000108074] [ENSMUST00000205264] [ENSMUST00000206399]

AlphaFold

Q8C5X1

Predicted Effect

probably benign
Transcript: ENSMUST00000085592
AA Change: S595P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000082730
Gene: ENSMUSG00000066571
AA Change: S595P

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Pfam:DUF4745	59	187	1.3e-57	PFAM
low complexity region	319	332	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC
low complexity region	677	696	N/A	INTRINSIC
low complexity region	699	729	N/A	INTRINSIC
low complexity region	771	786	N/A	INTRINSIC
low complexity region	856	868	N/A	INTRINSIC
low complexity region	890	913	N/A	INTRINSIC
low complexity region	940	951	N/A	INTRINSIC
low complexity region	1026	1049	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108074
AA Change: S595P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103709
Gene: ENSMUSG00000066571
AA Change: S595P

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
low complexity region	319	332	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC
low complexity region	677	696	N/A	INTRINSIC
low complexity region	699	729	N/A	INTRINSIC
low complexity region	771	786	N/A	INTRINSIC
low complexity region	856	868	N/A	INTRINSIC
low complexity region	890	913	N/A	INTRINSIC
low complexity region	940	951	N/A	INTRINSIC
low complexity region	1026	1049	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205264

Predicted Effect

probably benign
Transcript: ENSMUST00000206399
AA Change: S383P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,641,332	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,279,600	G249R	probably damaging	Het
Actn1	T	C	12: 80,183,602	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,908,790	V743G	probably benign	Het
Arap2	A	T	5: 62,676,549	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357		probably null	Het
F7	C	T	8: 13,035,215	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326	S210T	probably benign	Het
Ift80	T	C	3: 68,994,282		probably null	Het
Iqgap1	A	G	7: 80,760,829	V212A	possibly damaging	Het
Itih5	A	G	2: 10,238,796	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,624,948	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,337,959		probably null	Het
Neto1	A	T	18: 86,498,931	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088	I208F	probably benign	Het
P2ry14	C	T	3: 59,116,045	G7D	probably benign	Het
Pde11a	A	G	2: 76,136,414	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,004,318	V262I	probably benign	Het
Poli	A	G	18: 70,508,978	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,125,559	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855	E458G	possibly damaging	Het
Sv2b	T	A	7: 75,147,713	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831	I47F		Het
Trp53bp2	C	T	1: 182,446,568	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143		probably null	Het
Usf3	T	C	16: 44,220,034	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het

Other mutations in 4931406P16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:4931406P16Rik	APN	7	34245987	splice site	probably benign
IGL00160:4931406P16Rik	APN	7	34239006	missense	possibly damaging	0.88
IGL00691:4931406P16Rik	APN	7	34245485	missense	probably damaging	1.00
IGL01312:4931406P16Rik	APN	7	34256508	missense	probably benign	0.19
IGL01954:4931406P16Rik	APN	7	34245035	missense	probably damaging	1.00
IGL02016:4931406P16Rik	APN	7	34239101	missense	possibly damaging	0.74
IGL02390:4931406P16Rik	APN	7	34248218	missense	probably damaging	1.00
IGL02407:4931406P16Rik	APN	7	34256484	missense	probably damaging	0.99
IGL02677:4931406P16Rik	APN	7	34242409	splice site	probably benign
IGL02929:4931406P16Rik	APN	7	34245082	missense	possibly damaging	0.46
IGL03285:4931406P16Rik	APN	7	34284991	missense	possibly damaging	0.81
I1329:4931406P16Rik	UTSW	7	34245194	missense	probably benign	0.00
R0004:4931406P16Rik	UTSW	7	34256428	missense	probably damaging	0.99
R0100:4931406P16Rik	UTSW	7	34254011	missense	possibly damaging	0.95
R0100:4931406P16Rik	UTSW	7	34254011	missense	possibly damaging	0.95
R0135:4931406P16Rik	UTSW	7	34245957	missense	probably damaging	1.00
R0137:4931406P16Rik	UTSW	7	34239219	missense	probably damaging	1.00
R0556:4931406P16Rik	UTSW	7	34239797	missense	probably damaging	0.99
R0687:4931406P16Rik	UTSW	7	34245418	missense	possibly damaging	0.95
R0928:4931406P16Rik	UTSW	7	34248246	splice site	probably null
R1719:4931406P16Rik	UTSW	7	34248206	missense	probably damaging	0.98
R1908:4931406P16Rik	UTSW	7	34258036	missense	probably benign	0.14
R1909:4931406P16Rik	UTSW	7	34258036	missense	probably benign	0.14
R1976:4931406P16Rik	UTSW	7	34257380	missense	probably damaging	0.99
R2496:4931406P16Rik	UTSW	7	34256491	missense	possibly damaging	0.93
R3005:4931406P16Rik	UTSW	7	34284784	missense	probably damaging	1.00
R4666:4931406P16Rik	UTSW	7	34284773	missense	probably damaging	0.98
R4832:4931406P16Rik	UTSW	7	34238908	utr 3 prime	probably benign
R4870:4931406P16Rik	UTSW	7	34284887	missense	possibly damaging	0.83
R4989:4931406P16Rik	UTSW	7	34245800	missense	probably damaging	1.00
R5033:4931406P16Rik	UTSW	7	34245812	missense	probably benign
R5308:4931406P16Rik	UTSW	7	34245755	nonsense	probably null
R5366:4931406P16Rik	UTSW	7	34242288	missense	possibly damaging	0.74
R5386:4931406P16Rik	UTSW	7	34242388	missense	probably damaging	0.99
R5688:4931406P16Rik	UTSW	7	34253991	missense	possibly damaging	0.74
R5688:4931406P16Rik	UTSW	7	34284709	missense	probably damaging	0.99
R5714:4931406P16Rik	UTSW	7	34240516	nonsense	probably null
R5733:4931406P16Rik	UTSW	7	34245080	missense	probably damaging	0.99
R5772:4931406P16Rik	UTSW	7	34253988	missense	probably damaging	0.97
R6059:4931406P16Rik	UTSW	7	34245463	missense	possibly damaging	0.90
R6211:4931406P16Rik	UTSW	7	34239004	missense	possibly damaging	0.95
R6276:4931406P16Rik	UTSW	7	34242377	nonsense	probably null
R6477:4931406P16Rik	UTSW	7	34257630	critical splice donor site	probably null
R6757:4931406P16Rik	UTSW	7	34239077	missense	possibly damaging	0.89
R6912:4931406P16Rik	UTSW	7	34245668	missense	probably benign
R7156:4931406P16Rik	UTSW	7	34245708	missense	possibly damaging	0.80
R7317:4931406P16Rik	UTSW	7	34263647	missense	probably benign
R7431:4931406P16Rik	UTSW	7	34284794	missense	possibly damaging	0.73
R7996:4931406P16Rik	UTSW	7	34263599	missense	possibly damaging	0.77
R8348:4931406P16Rik	UTSW	7	34285144	missense	probably damaging	1.00
R8448:4931406P16Rik	UTSW	7	34285144	missense	probably damaging	1.00
R8989:4931406P16Rik	UTSW	7	34257444	missense	probably damaging	0.99
R9010:4931406P16Rik	UTSW	7	34239066	missense	probably benign	0.01
R9095:4931406P16Rik	UTSW	7	34257345	critical splice donor site	probably null
R9505:4931406P16Rik	UTSW	7	34284946	missense	probably damaging	1.00
R9530:4931406P16Rik	UTSW	7	34263644	missense	probably benign	0.01
R9612:4931406P16Rik	UTSW	7	34248231	missense	probably damaging	1.00
RF019:4931406P16Rik	UTSW	7	34240549	missense	probably damaging	0.98
X0021:4931406P16Rik	UTSW	7	34245363	missense	possibly damaging	0.94
Z1177:4931406P16Rik	UTSW	7	34284755	missense	probably damaging	0.96
Z1186:4931406P16Rik	UTSW	7	34239108	missense	probably benign
Z1186:4931406P16Rik	UTSW	7	34239158	missense	probably benign	0.03
Z1186:4931406P16Rik	UTSW	7	34245760	missense	probably benign
Z1191:4931406P16Rik	UTSW	7	34239108	missense	probably benign
Z1191:4931406P16Rik	UTSW	7	34239158	missense	probably benign	0.03
Z1191:4931406P16Rik	UTSW	7	34245760	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTACGCCTTGTCACCAGTGG -3'
(R):5'- GCAGAAGACTTTCTCCAAACTGAC -3'

Sequencing Primer
(F):5'- TGGGTAAGTTCATGCCCT -3'
(R):5'- TGACATCCCGGTTCACAAAG -3'

Posted On

2019-10-07