Mutagenetix > Incidental Mutations

Incidental Mutation 'R7035:6430548M08Rik'

546607

Institutional Source

Beutler Lab

Gene Symbol

6430548M08Rik

Ensembl Gene

ENSMUSG00000031824

Gene Name

RIKEN cDNA 6430548M08 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7035 (G1)

Quality Score

172.009

Status

Validated

Chromosome

Chromosomal Location

120114152-120165306 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120152486 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 208 (S208C)

Ref Sequence

ENSEMBL: ENSMUSP00000114976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034281] [ENSMUST00000108948] [ENSMUST00000108950] [ENSMUST00000108951] [ENSMUST00000127664] [ENSMUST00000153725]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034281
AA Change: S208C

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

SMART Domains

Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824
AA Change: S208C

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108948
AA Change: S208C

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

SMART Domains

Protein: ENSMUSP00000104576
Gene: ENSMUSG00000031824
AA Change: S208C

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108950
AA Change: S208C

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

SMART Domains

Protein: ENSMUSP00000104578
Gene: ENSMUSG00000031824
AA Change: S208C

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108951
AA Change: S208C

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

SMART Domains

Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824
AA Change: S208C

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000153725
AA Change: S208C

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

SMART Domains

Protein: ENSMUSP00000114976
Gene: ENSMUSG00000031824
AA Change: S208C

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,869,939	F78I	probably benign	Het
1700102P08Rik	A	T	9: 108,395,311	D140V	possibly damaging	Het
3632451O06Rik	T	A	14: 49,773,050	H400L	possibly damaging	Het
Abcd4	G	T	12: 84,615,349	T41K	probably damaging	Het
Acaca	C	T	11: 84,238,943	R375C	probably damaging	Het
Acad11	T	A	9: 104,113,495	V433D	probably damaging	Het
Adal	T	A	2: 121,155,461	C226S	probably benign	Het
Aldh3b2	A	T	19: 3,978,142	M95L	probably benign	Het
Ano4	A	G	10: 88,954,711	F842S	probably damaging	Het
Ap5s1	T	C	2: 131,212,812	F181S	probably damaging	Het
Apba1	G	A	19: 23,917,567	D456N	possibly damaging	Het
Atp6v0a1	A	C	11: 101,027,357	Q199H	probably damaging	Het
Atp8a1	C	G	5: 67,781,030	G161A	probably benign	Het
Atxn2	C	T	5: 121,811,467	Q61*	probably null	Het
BC051142	C	T	17: 34,460,331		probably benign	Het
Cacna2d1	T	A	5: 16,246,672	I178K	probably damaging	Het
Catsperb	A	C	12: 101,415,334	T92P	probably damaging	Het
Ccdc175	A	G	12: 72,155,645	I292T	probably benign	Het
Cep290	T	A	10: 100,499,071	S318T	probably benign	Het
Cfb	T	A	17: 34,860,031	Y826F	possibly damaging	Het
Cntn1	C	A	15: 92,314,511	D851E	probably benign	Het
Coq6	A	G	12: 84,368,641	D146G	probably damaging	Het
Crem	G	A	18: 3,327,503	T12I	probably damaging	Het
Dennd4c	G	A	4: 86,812,337	V824I	probably damaging	Het
Dnase2b	C	T	3: 146,582,341	C333Y	probably damaging	Het
Dopey1	T	A	9: 86,524,302	F365I	possibly damaging	Het
Dysf	A	T	6: 84,186,392	I1570F	probably benign	Het
E330021D16Rik	G	A	6: 136,401,349	T161M	possibly damaging	Het
Eml1	T	A	12: 108,509,234	C275S	probably damaging	Het
Fam135b	A	C	15: 71,462,253	S1031A	possibly damaging	Het
Gga2	T	C	7: 121,989,716	D596G	probably damaging	Het
Gin1	A	C	1: 97,792,375	Y365S	possibly damaging	Het
Gipr	T	A	7: 19,162,884	I154F	probably damaging	Het
Gm5478	A	T	15: 101,645,197	I284N	possibly damaging	Het
Gnat1	A	T	9: 107,676,628		probably benign	Het
Gsdmc	A	T	15: 63,778,720		probably null	Het
Lama1	T	A	17: 67,781,049	I1554N		Het
Mycbp2	T	A	14: 103,174,981	T2519S	probably benign	Het
Mylk	G	A	16: 34,976,982	V1604M	possibly damaging	Het
Mypop	C	T	7: 18,991,997		probably benign	Het
Nol6	A	T	4: 41,118,479	V774E	probably benign	Het
Nol8	T	C	13: 49,661,202	V262A	probably benign	Het
Npepps	A	T	11: 97,223,139	V637D	probably damaging	Het
Olfr1	T	C	11: 73,395,718	I101M	probably benign	Het
Olfr1275	A	G	2: 111,231,439	M118T	probably damaging	Het
Olfr472	T	C	7: 107,902,933	V72A	probably benign	Het
Pcdhgb8	A	T	18: 37,763,148	I424F	possibly damaging	Het
Phf7	A	C	14: 31,239,226	W231G	probably damaging	Het
Plagl1	A	G	10: 13,128,233		probably benign	Het
Plat	A	T	8: 22,772,311	D117V	probably benign	Het
Prkag2	T	C	5: 24,947,566	Y180C	probably damaging	Het
Prpf8	T	C	11: 75,504,828	I1927T	possibly damaging	Het
Ptchd1	T	A	X: 155,574,712	Y499F	probably damaging	Het
Rad17	T	A	13: 100,627,625	D446V	possibly damaging	Het
Ralgapa2	G	T	2: 146,511,857	Q15K	probably damaging	Het
Ret	A	G	6: 118,163,286	Y982H	probably damaging	Het
Rnf145	T	A	11: 44,561,756	S521T	probably damaging	Het
Samd4	G	A	14: 47,089,163		silent	Het
Sardh	T	C	2: 27,230,842	D390G	probably damaging	Het
Saxo1	T	C	4: 86,445,122	T375A	probably damaging	Het
Scly	A	G	1: 91,308,403	T126A	probably damaging	Het
Slc6a16	T	A	7: 45,260,827	V307D	probably damaging	Het
Sned1	T	C	1: 93,262,130	C320R	probably damaging	Het
Sspo	G	A	6: 48,449,213		probably null	Het
Sycp2l	C	T	13: 41,157,497	T645I	unknown	Het
Tpmt	T	C	13: 47,040,108	K72E	probably damaging	Het
Vmn1r51	A	T	6: 90,129,225	H41L	probably benign	Het
Wdfy3	A	T	5: 101,855,549	I2900N	probably damaging	Het
Zfp663	A	G	2: 165,353,103	S399P	probably benign	Het
Zfp692	T	C	11: 58,309,442		probably null	Het

Other mutations in 6430548M08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02861:6430548M08Rik	APN	8	120150124	missense	probably damaging	1.00
R0137:6430548M08Rik	UTSW	8	120151376	missense	possibly damaging	0.87
R1019:6430548M08Rik	UTSW	8	120145470	missense	probably damaging	0.98
R1140:6430548M08Rik	UTSW	8	120150135	missense	probably damaging	1.00
R2026:6430548M08Rik	UTSW	8	120153466	missense	probably benign	0.00
R2209:6430548M08Rik	UTSW	8	120157488	missense	possibly damaging	0.73
R2508:6430548M08Rik	UTSW	8	120145393	missense	probably benign	0.03
R2884:6430548M08Rik	UTSW	8	120145511	missense	possibly damaging	0.94
R3724:6430548M08Rik	UTSW	8	120149360	missense	probably damaging	1.00
R3944:6430548M08Rik	UTSW	8	120152502	missense	probably damaging	1.00
R4584:6430548M08Rik	UTSW	8	120160017	missense	probably damaging	1.00
R4668:6430548M08Rik	UTSW	8	120160414	critical splice donor site	probably null
R5883:6430548M08Rik	UTSW	8	120145641	missense	probably damaging	0.98
R6621:6430548M08Rik	UTSW	8	120145423	missense	possibly damaging	0.60
R6919:6430548M08Rik	UTSW	8	120145482	missense	probably damaging	1.00
R7023:6430548M08Rik	UTSW	8	120145357	missense	probably damaging	1.00
R7218:6430548M08Rik	UTSW	8	120145583	missense	probably damaging	1.00
R7343:6430548M08Rik	UTSW	8	120145588	missense	probably benign
R7424:6430548M08Rik	UTSW	8	120145545	missense	probably damaging	1.00
R7711:6430548M08Rik	UTSW	8	120159984	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCTGACCACCTACCCTGTTGAG -3'
(R):5'- CGCTCCTCCCATATAGTAAGC -3'

Sequencing Primer
(F):5'- ACCTACCCTGTTGAGGAGACTGAG -3'
(R):5'- GCTCCTCCCATATAGTAAGCTCAGG -3'

Posted On

2019-05-13