Mutagenetix > Incidental Mutation

Incidental Mutation 'R4387:AI481877'

326258

Institutional Source

Beutler Lab

Gene Symbol

AI481877

Ensembl Gene

ENSMUSG00000038598

Gene Name

expressed sequence AI481877

Synonyms

LOC242489, Gm426

MMRRC Submission

041681-MU

Accession Numbers

Genbank: XM_001476641.2; Ensembl: ENSMUST00000107547

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R4387 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

59043753-59138983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59060915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 953 (C953S)

Ref Sequence

ENSEMBL: ENSMUSP00000103171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107547]

AlphaFold

A2ALV5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107547
AA Change: C953S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: C953S

Domain	Start	End	E-Value	Type
low complexity region	246	264	N/A	INTRINSIC
low complexity region	543	560	N/A	INTRINSIC
low complexity region	908	917	N/A	INTRINSIC
low complexity region	1189	1201	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

All alleles(6) : Targeted, other(1) Gene trapped(5)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,316,574		probably null	Het
9930021J03Rik	A	G	19: 29,805,315		probably benign	Het
Adprm	C	T	11: 67,038,193	R324K	probably benign	Het
Calcr	T	A	6: 3,707,581	N240Y	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cd209b	A	G	8: 3,925,960	L67P	probably damaging	Het
Cp	T	C	3: 19,977,202	V601A	probably damaging	Het
Cyp2a5	A	G	7: 26,841,054	D364G	probably damaging	Het
Eno4	T	A	19: 58,953,208	V187D	probably benign	Het
Fbxl7	C	A	15: 26,543,259	S434I	probably damaging	Het
Fbxw24	A	T	9: 109,609,985	L174Q	probably damaging	Het
Fryl	T	A	5: 73,086,560	R91S	possibly damaging	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Gtpbp2	A	G	17: 46,166,358	D383G	probably benign	Het
Igf1r	A	G	7: 68,170,009	I356V	probably benign	Het
Kcnc1	C	A	7: 46,397,702	R9S	possibly damaging	Het
Lipi	T	A	16: 75,573,955	I125F	probably damaging	Het
Meig1	T	C	2: 3,409,241	E74G	probably damaging	Het
Mgat4d	A	T	8: 83,371,706	Q366L	probably damaging	Het
Mrpl1	A	G	5: 96,238,919	N256D	possibly damaging	Het
Nlrp4e	A	G	7: 23,301,477	K66E	probably benign	Het
Nlrp4e	A	G	7: 23,321,227	I380V	probably benign	Het
Nphp3	A	G	9: 104,030,020	T740A	possibly damaging	Het
Olfr1080	T	C	2: 86,553,954	T57A	probably damaging	Het
Olfr1090	T	A	2: 86,754,120	D206V	probably benign	Het
Olfr262	A	G	19: 12,241,139	V174A	probably damaging	Het
Pde5a	T	C	3: 122,729,352	I36T	probably benign	Het
Pign	A	T	1: 105,522,060	L914M	possibly damaging	Het
Ppm1b	A	G	17: 85,015,419	D382G	probably benign	Het
Psd3	T	C	8: 68,000,761	Y282C	probably damaging	Het
Ptprt	A	T	2: 161,927,650	Y432N	probably damaging	Het
Rbbp6	T	C	7: 122,997,311		probably null	Het
Recql4	A	G	15: 76,705,958	S659P	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,283		noncoding transcript	Het
Slit3	T	C	11: 35,684,048	V1063A	probably benign	Het
Spdye4a	A	G	5: 143,225,623	V62A	probably benign	Het
Ttc6	G	A	12: 57,643,050	G509S	probably benign	Het
Ush2a	C	T	1: 188,443,431	T1242M	probably benign	Het
Wwc2	T	C	8: 47,831,646	S1155G	unknown	Het
Zfp551	A	T	7: 12,418,641	I55N	probably damaging	Het

Other mutations in AI481877

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:AI481877	APN	4	59086961	missense	probably benign
IGL00574:AI481877	APN	4	59094201	missense	possibly damaging	0.66
IGL01333:AI481877	APN	4	59047870	missense	possibly damaging	0.66
IGL02282:AI481877	APN	4	59111114	missense	unknown
IGL02418:AI481877	APN	4	59049075	splice site	probably benign
IGL02621:AI481877	APN	4	59062668	missense	probably damaging	0.97
IGL03028:AI481877	APN	4	59094274	missense	possibly damaging	0.66
IGL03112:AI481877	APN	4	59049355	missense	probably benign	0.27
IGL03137:AI481877	APN	4	59094162	missense	probably benign	0.27
IGL03220:AI481877	APN	4	59082378	nonsense	probably null
IGL03386:AI481877	APN	4	59069315	missense	possibly damaging	0.66
1mM(1):AI481877	UTSW	4	59048024	nonsense	probably null
R0071:AI481877	UTSW	4	59059643	missense	possibly damaging	0.92
R0071:AI481877	UTSW	4	59059643	missense	possibly damaging	0.92
R0194:AI481877	UTSW	4	59066534	splice site	probably benign
R0366:AI481877	UTSW	4	59099410	missense	probably benign	0.09
R0680:AI481877	UTSW	4	59043967	missense	probably benign	0.00
R1419:AI481877	UTSW	4	59064457	missense	possibly damaging	0.66
R1599:AI481877	UTSW	4	59072349	missense	possibly damaging	0.82
R1699:AI481877	UTSW	4	59113926	missense	unknown
R1799:AI481877	UTSW	4	59099383	missense	possibly damaging	0.92
R1832:AI481877	UTSW	4	59066441	missense	probably benign	0.05
R1870:AI481877	UTSW	4	59054142	splice site	probably benign
R2076:AI481877	UTSW	4	59082410	missense	possibly damaging	0.46
R2170:AI481877	UTSW	4	59069215	missense	possibly damaging	0.92
R2870:AI481877	UTSW	4	59093850	missense	probably damaging	0.97
R2870:AI481877	UTSW	4	59093850	missense	probably damaging	0.97
R2871:AI481877	UTSW	4	59093850	missense	probably damaging	0.97
R2871:AI481877	UTSW	4	59093850	missense	probably damaging	0.97
R2872:AI481877	UTSW	4	59093850	missense	probably damaging	0.97
R2872:AI481877	UTSW	4	59093850	missense	probably damaging	0.97
R2873:AI481877	UTSW	4	59093850	missense	probably damaging	0.97
R3026:AI481877	UTSW	4	59062656	missense	possibly damaging	0.83
R3079:AI481877	UTSW	4	59047848	missense	possibly damaging	0.82
R3853:AI481877	UTSW	4	59047390	missense	possibly damaging	0.66
R3914:AI481877	UTSW	4	59094201	missense	possibly damaging	0.66
R4006:AI481877	UTSW	4	59076500	missense	possibly damaging	0.53
R4364:AI481877	UTSW	4	59082294	missense	possibly damaging	0.92
R4454:AI481877	UTSW	4	59092383	missense	possibly damaging	0.90
R4811:AI481877	UTSW	4	59082404	missense	probably benign	0.19
R4853:AI481877	UTSW	4	59072345	missense	possibly damaging	0.66
R4899:AI481877	UTSW	4	59062640	missense	probably damaging	0.97
R5090:AI481877	UTSW	4	59111108	missense	unknown
R5169:AI481877	UTSW	4	59059618	missense	possibly damaging	0.66
R5297:AI481877	UTSW	4	59047543	missense	probably benign
R5400:AI481877	UTSW	4	59082432	missense	possibly damaging	0.83
R5419:AI481877	UTSW	4	59049017	missense	probably benign	0.04
R5668:AI481877	UTSW	4	59047399	missense	probably benign
R5770:AI481877	UTSW	4	59092466	missense	probably benign	0.00
R5783:AI481877	UTSW	4	59076239	nonsense	probably null
R5929:AI481877	UTSW	4	59092497	nonsense	probably null
R6209:AI481877	UTSW	4	59043869	makesense	probably null
R6230:AI481877	UTSW	4	59099345	missense	probably benign
R6233:AI481877	UTSW	4	59076245	missense	possibly damaging	0.92
R6351:AI481877	UTSW	4	59069317	missense	probably benign	0.00
R6785:AI481877	UTSW	4	59049066	missense	probably benign	0.01
R6884:AI481877	UTSW	4	59059652	missense	possibly damaging	0.83
R7355:AI481877	UTSW	4	59076155	missense	probably benign
R7423:AI481877	UTSW	4	59076264	missense	probably benign	0.27
R7484:AI481877	UTSW	4	59062286	missense	probably damaging	0.97
R7560:AI481877	UTSW	4	59076140	missense	possibly damaging	0.66
R7999:AI481877	UTSW	4	59094162	missense	probably benign	0.27
R8198:AI481877	UTSW	4	59065174	missense	probably benign	0.10
R8979:AI481877	UTSW	4	59047276	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GTGGTAAGTTCCTACCTTTGAATG -3'
(R):5'- AGAGGCTTTCCAGGTGAACAG -3'

Sequencing Primer
(F):5'- AAGTTCCTACCTTTGAATGTATTCC -3'
(R):5'- GCTTTCCAGGTGAACAGGTATAG -3'

Posted On

2015-07-06