Mutagenetix > Incidental Mutation

Incidental Mutation 'R7035:6430548M08Rik'

546607

Institutional Source

Beutler Lab

Gene Symbol

6430548M08Rik

Ensembl Gene

ENSMUSG00000031824

Gene Name

RIKEN cDNA 6430548M08 gene

Synonyms

MMRRC Submission

045136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R7035 (G1)

Quality Score

172.009

Status

Validated

Chromosome

Chromosomal Location

120840891-120892045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120879225 bp (GRCm39)

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]

AlphaFold

Q8R0A7

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: 68,777,272 (GRCm39)	F78I	probably benign	Het
1700102P08Rik	A	T	9: 108,272,510 (GRCm39)	D140V	possibly damaging	Het
Abcd4	G	T	12: 84,662,123 (GRCm39)	T41K	probably damaging	Het
Acaca	C	T	11: 84,129,769 (GRCm39)	R375C	probably damaging	Het
Acad11	T	A	9: 103,990,694 (GRCm39)	V433D	probably damaging	Het
Adal	T	A	2: 120,985,942 (GRCm39)	C226S	probably benign	Het
Aldh3b2	A	T	19: 4,028,142 (GRCm39)	M95L	probably benign	Het
Ano4	A	G	10: 88,790,573 (GRCm39)	F842S	probably damaging	Het
Ap5s1	T	C	2: 131,054,732 (GRCm39)	F181S	probably damaging	Het
Apba1	G	A	19: 23,894,931 (GRCm39)	D456N	possibly damaging	Het
Armh4	T	A	14: 50,010,507 (GRCm39)	H400L	possibly damaging	Het
Atp6v0a1	A	C	11: 100,918,183 (GRCm39)	Q199H	probably damaging	Het
Atp8a1	C	G	5: 67,938,373 (GRCm39)	G161A	probably benign	Het
Atxn2	C	T	5: 121,949,530 (GRCm39)	Q61*	probably null	Het
Cacna2d1	T	A	5: 16,451,670 (GRCm39)	I178K	probably damaging	Het
Catsperb	A	C	12: 101,381,593 (GRCm39)	T92P	probably damaging	Het
Ccdc175	A	G	12: 72,202,419 (GRCm39)	I292T	probably benign	Het
Cep290	T	A	10: 100,334,933 (GRCm39)	S318T	probably benign	Het
Cfb	T	A	17: 35,079,007 (GRCm39)	Y826F	possibly damaging	Het
Cntn1	C	A	15: 92,212,392 (GRCm39)	D851E	probably benign	Het
Coq6	A	G	12: 84,415,415 (GRCm39)	D146G	probably damaging	Het
Crem	G	A	18: 3,327,503 (GRCm39)	T12I	probably damaging	Het
Dennd4c	G	A	4: 86,730,574 (GRCm39)	V824I	probably damaging	Het
Dnase2b	C	T	3: 146,288,096 (GRCm39)	C333Y	probably damaging	Het
Dop1a	T	A	9: 86,406,355 (GRCm39)	F365I	possibly damaging	Het
Dysf	A	T	6: 84,163,374 (GRCm39)	I1570F	probably benign	Het
Eml1	T	A	12: 108,475,493 (GRCm39)	C275S	probably damaging	Het
Fam135b	A	C	15: 71,334,102 (GRCm39)	S1031A	possibly damaging	Het
Gga2	T	C	7: 121,588,939 (GRCm39)	D596G	probably damaging	Het
Gin1	A	C	1: 97,720,100 (GRCm39)	Y365S	possibly damaging	Het
Gipr	T	A	7: 18,896,809 (GRCm39)	I154F	probably damaging	Het
Gm5478	A	T	15: 101,553,632 (GRCm39)	I284N	possibly damaging	Het
Gnat1	A	T	9: 107,553,827 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,650,569 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,088,044 (GRCm39)	I1554N		Het
Mycbp2	T	A	14: 103,412,417 (GRCm39)	T2519S	probably benign	Het
Mylk	G	A	16: 34,797,352 (GRCm39)	V1604M	possibly damaging	Het
Mypop	C	T	7: 18,725,922 (GRCm39)		probably benign	Het
Nol6	A	T	4: 41,118,479 (GRCm39)	V774E	probably benign	Het
Nol8	T	C	13: 49,814,678 (GRCm39)	V262A	probably benign	Het
Npepps	A	T	11: 97,113,965 (GRCm39)	V637D	probably damaging	Het
Or1e16	T	C	11: 73,286,544 (GRCm39)	I101M	probably benign	Het
Or4f52	A	G	2: 111,061,784 (GRCm39)	M118T	probably damaging	Het
Or5p52	T	C	7: 107,502,140 (GRCm39)	V72A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,201 (GRCm39)	I424F	possibly damaging	Het
Phf7	A	C	14: 30,961,183 (GRCm39)	W231G	probably damaging	Het
Plagl1	A	G	10: 13,003,977 (GRCm39)		probably benign	Het
Plat	A	T	8: 23,262,327 (GRCm39)	D117V	probably benign	Het
Prkag2	T	C	5: 25,152,564 (GRCm39)	Y180C	probably damaging	Het
Prpf8	T	C	11: 75,395,654 (GRCm39)	I1927T	possibly damaging	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Rad17	T	A	13: 100,764,133 (GRCm39)	D446V	possibly damaging	Het
Ralgapa2	G	T	2: 146,353,777 (GRCm39)	Q15K	probably damaging	Het
Ret	A	G	6: 118,140,247 (GRCm39)	Y982H	probably damaging	Het
Rnf145	T	A	11: 44,452,583 (GRCm39)	S521T	probably damaging	Het
Samd4	G	A	14: 47,326,620 (GRCm39)		silent	Het
Sardh	T	C	2: 27,120,854 (GRCm39)	D390G	probably damaging	Het
Saxo1	T	C	4: 86,363,359 (GRCm39)	T375A	probably damaging	Het
Scly	A	G	1: 91,236,125 (GRCm39)	T126A	probably damaging	Het
Slc6a16	T	A	7: 44,910,251 (GRCm39)	V307D	probably damaging	Het
Sned1	T	C	1: 93,189,852 (GRCm39)	C320R	probably damaging	Het
Sspo	G	A	6: 48,426,147 (GRCm39)		probably null	Het
Sycp2l	C	T	13: 41,310,973 (GRCm39)	T645I	unknown	Het
Tpmt	T	C	13: 47,193,584 (GRCm39)	K72E	probably damaging	Het
Tsbp1	C	T	17: 34,679,305 (GRCm39)		probably benign	Het
Ube2q2l	G	A	6: 136,378,347 (GRCm39)	T161M	possibly damaging	Het
Vmn1r51	A	T	6: 90,106,207 (GRCm39)	H41L	probably benign	Het
Wdfy3	A	T	5: 102,003,415 (GRCm39)	I2900N	probably damaging	Het
Zfp663	A	G	2: 165,195,023 (GRCm39)	S399P	probably benign	Het
Zfp692	T	C	11: 58,200,268 (GRCm39)		probably null	Het

Other mutations in 6430548M08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02861:6430548M08Rik	APN	8	120,876,863 (GRCm39)	missense	probably damaging	1.00
R0137:6430548M08Rik	UTSW	8	120,878,115 (GRCm39)	missense	possibly damaging	0.87
R1019:6430548M08Rik	UTSW	8	120,872,209 (GRCm39)	missense	probably damaging	0.98
R1140:6430548M08Rik	UTSW	8	120,876,874 (GRCm39)	missense	probably damaging	1.00
R2026:6430548M08Rik	UTSW	8	120,880,205 (GRCm39)	missense	probably benign	0.00
R2209:6430548M08Rik	UTSW	8	120,884,227 (GRCm39)	missense	possibly damaging	0.73
R2508:6430548M08Rik	UTSW	8	120,872,132 (GRCm39)	missense	probably benign	0.03
R2884:6430548M08Rik	UTSW	8	120,872,250 (GRCm39)	missense	possibly damaging	0.94
R3724:6430548M08Rik	UTSW	8	120,876,099 (GRCm39)	missense	probably damaging	1.00
R3944:6430548M08Rik	UTSW	8	120,879,241 (GRCm39)	missense	probably damaging	1.00
R4584:6430548M08Rik	UTSW	8	120,886,756 (GRCm39)	missense	probably damaging	1.00
R4668:6430548M08Rik	UTSW	8	120,887,153 (GRCm39)	critical splice donor site	probably null
R5883:6430548M08Rik	UTSW	8	120,872,380 (GRCm39)	missense	possibly damaging	0.68
R6621:6430548M08Rik	UTSW	8	120,872,162 (GRCm39)	missense	possibly damaging	0.60
R6919:6430548M08Rik	UTSW	8	120,872,221 (GRCm39)	missense	probably damaging	1.00
R7023:6430548M08Rik	UTSW	8	120,872,096 (GRCm39)	missense	probably damaging	1.00
R7218:6430548M08Rik	UTSW	8	120,872,322 (GRCm39)	missense	probably damaging	1.00
R7343:6430548M08Rik	UTSW	8	120,872,327 (GRCm39)	missense	probably benign
R7424:6430548M08Rik	UTSW	8	120,872,284 (GRCm39)	missense	probably damaging	1.00
R7711:6430548M08Rik	UTSW	8	120,886,723 (GRCm39)	missense	possibly damaging	0.91
R8511:6430548M08Rik	UTSW	8	120,879,301 (GRCm39)	missense	probably benign	0.29
R9009:6430548M08Rik	UTSW	8	120,878,279 (GRCm39)	intron	probably benign
R9489:6430548M08Rik	UTSW	8	120,872,380 (GRCm39)	missense	possibly damaging	0.68
R9605:6430548M08Rik	UTSW	8	120,872,380 (GRCm39)	missense	possibly damaging	0.68
R9606:6430548M08Rik	UTSW	8	120,880,706 (GRCm39)	missense	probably damaging	1.00

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