Mutagenetix > Incidental Mutation

Incidental Mutation 'R7218:6430548M08Rik'

561601

Institutional Source

Beutler Lab

Gene Symbol

6430548M08Rik

Ensembl Gene

ENSMUSG00000031824

Gene Name

RIKEN cDNA 6430548M08 gene

Synonyms

MMRRC Submission

045290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R7218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120840891-120892045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120872322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 83 (S83R)

Ref Sequence

ENSEMBL: ENSMUSP00000034281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034281] [ENSMUST00000108948] [ENSMUST00000108950] [ENSMUST00000108951] [ENSMUST00000127664] [ENSMUST00000132229] [ENSMUST00000153725]

AlphaFold

Q8R0A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034281
AA Change: S83R

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

SMART Domains

Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824
AA Change: S83R

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: S83R

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

SMART Domains

Protein: ENSMUSP00000104576
Gene: ENSMUSG00000031824
AA Change: S83R

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: S83R

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

SMART Domains

Protein: ENSMUSP00000104578
Gene: ENSMUSG00000031824
AA Change: S83R

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: S83R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824
AA Change: S83R

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 benign
Transcript: ENSMUST00000132229

SMART Domains

Protein: ENSMUSP00000117269
Gene: ENSMUSG00000031824

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153725
AA Change: S83R

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

SMART Domains

Protein: ENSMUSP00000114976
Gene: ENSMUSG00000031824
AA Change: S83R

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	T	C	17: 46,043,977 (GRCm39)	T94A	unknown	Het
1700025G04Rik	T	C	1: 151,791,259 (GRCm39)	R101G	probably damaging	Het
Actn2	A	G	13: 12,293,799 (GRCm39)	S574P	probably benign	Het
Ank	A	T	15: 27,544,407 (GRCm39)	Y56F	probably damaging	Het
Ano7	A	G	1: 93,308,191 (GRCm39)	D74G	probably benign	Het
Apaf1	T	A	10: 90,872,864 (GRCm39)	T738S	probably damaging	Het
Apcs	A	T	1: 172,722,231 (GRCm39)	D38E	possibly damaging	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Atp8a1	T	A	5: 67,860,324 (GRCm39)	D717V		Het
Baiap2l1	A	G	5: 144,212,687 (GRCm39)	S443P	probably benign	Het
Bmal1	A	T	7: 112,886,390 (GRCm39)	H149L	probably damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
C1qtnf6	T	C	15: 78,411,574 (GRCm39)	E34G	probably benign	Het
Chil3	A	C	3: 106,067,853 (GRCm39)		probably null	Het
Chmp4c	T	A	3: 10,432,198 (GRCm39)	L36Q	probably damaging	Het
Chrna2	T	A	14: 66,381,320 (GRCm39)		probably null	Het
Clec1a	C	T	6: 129,413,918 (GRCm39)	C57Y	probably damaging	Het
Clec7a	G	T	6: 129,445,885 (GRCm39)	T95K	probably damaging	Het
Csf1r	C	A	18: 61,263,396 (GRCm39)	S926R	probably damaging	Het
Dnajc9	A	G	14: 20,438,507 (GRCm39)	I61T	probably benign	Het
Extl1	T	G	4: 134,087,080 (GRCm39)	S493R	probably benign	Het
Fance	A	G	17: 28,545,148 (GRCm39)	D143G	probably benign	Het
Fcho2	C	T	13: 98,890,121 (GRCm39)		probably null	Het
Filip1	T	C	9: 79,725,356 (GRCm39)	S1088G	probably benign	Het
Gnat1	A	C	9: 107,553,184 (GRCm39)	M319R	possibly damaging	Het
Gpr132	A	T	12: 112,816,049 (GRCm39)	V259E	probably damaging	Het
Gprc5d	T	A	6: 135,093,452 (GRCm39)	M152L	probably benign	Het
Hif3a	C	T	7: 16,784,513 (GRCm39)	R244H	probably damaging	Het
Hivep3	T	C	4: 119,952,649 (GRCm39)	S322P	possibly damaging	Het
Il33	T	A	19: 29,936,325 (GRCm39)	F229I	probably damaging	Het
Il4ra	A	G	7: 125,174,950 (GRCm39)	D386G	probably benign	Het
Ino80	G	T	2: 119,288,608 (GRCm39)	H33N	probably benign	Het
Ip6k1	A	G	9: 107,922,781 (GRCm39)	D228G	unknown	Het
Mamdc2	C	T	19: 23,424,974 (GRCm39)	A40T	probably benign	Het
Meis3	T	C	7: 15,918,626 (GRCm39)	V357A	probably benign	Het
Mycbp2	T	C	14: 103,371,282 (GRCm39)	T4199A	probably benign	Het
Myo7b	A	T	18: 32,114,054 (GRCm39)	M1099K	probably benign	Het
Mzb1	A	T	18: 35,780,975 (GRCm39)	H104Q	probably benign	Het
Nfatc2	A	G	2: 168,413,184 (GRCm39)	L167P	probably benign	Het
Numa1	A	T	7: 101,650,117 (GRCm39)	S1283C	probably benign	Het
Nup98	T	G	7: 101,841,107 (GRCm39)		probably null	Het
Or13p4	T	C	4: 118,547,215 (GRCm39)	I145V	probably benign	Het
Or5p55	T	C	7: 107,566,874 (GRCm39)	L90P	probably benign	Het
Pkhd1l1	A	G	15: 44,386,091 (GRCm39)	T1243A	possibly damaging	Het
Pramel39-ps	C	A	5: 94,451,113 (GRCm39)	V338F	probably benign	Het
Ptpro	C	T	6: 137,431,596 (GRCm39)	R1152W	probably damaging	Het
Ptprt	T	C	2: 161,389,284 (GRCm39)	T1270A	probably damaging	Het
Pwwp2b	A	C	7: 138,836,049 (GRCm39)	T497P	probably damaging	Het
Rab44	T	A	17: 29,358,418 (GRCm39)	V202E		Het
Rbfox1	C	T	16: 7,111,947 (GRCm39)	T191I	probably damaging	Het
Rufy4	A	G	1: 74,172,174 (GRCm39)	K299R	probably damaging	Het
Snip1	T	A	4: 124,966,712 (GRCm39)	S381T	probably damaging	Het
Spen	T	C	4: 141,199,961 (GRCm39)	I2889V	possibly damaging	Het
Spopfm2	A	T	3: 94,082,856 (GRCm39)	H318Q	possibly damaging	Het
St3gal3	T	A	4: 117,814,639 (GRCm39)	D218V		Het
Sun1	A	G	5: 139,212,442 (GRCm39)	T70A	unknown	Het
Tbc1d23	C	T	16: 56,990,745 (GRCm39)	V678M	probably damaging	Het
Tdh	T	A	14: 63,733,206 (GRCm39)	Y195F	probably damaging	Het
Tescl	C	T	7: 24,033,286 (GRCm39)	R13H	possibly damaging	Het
Tfap2c	T	A	2: 172,399,277 (GRCm39)	M508K	probably benign	Het
Trappc4	A	G	9: 44,316,587 (GRCm39)	M136T	probably benign	Het
Tyk2	A	G	9: 21,016,350 (GRCm39)	C1207R	probably damaging	Het
Ugt2b36	T	C	5: 87,229,398 (GRCm39)	Y355C	probably damaging	Het
Vmn1r119	T	A	7: 20,745,572 (GRCm39)	H270L	probably benign	Het
Vmn2r20	G	A	6: 123,363,074 (GRCm39)	P570L	probably damaging	Het
Wnk1	A	C	6: 119,979,234 (GRCm39)	Y284*	probably null	Het
Yars2	C	T	16: 16,121,182 (GRCm39)	A112V	probably damaging	Het
Zer1	T	C	2: 29,995,024 (GRCm39)	N470S	probably damaging	Het
Zfp747l1	A	T	7: 126,983,852 (GRCm39)	S417T	probably benign	Het
Zfp879	A	C	11: 50,723,508 (GRCm39)	V516G	possibly damaging	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
R7035:6430548M08Rik	UTSW	8	120,879,225 (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'- GGCTCCCTGATTGACTTTGAGAC -3'
(R):5'- ACCCTTCTTCTCACAAAGGGTC -3'

Sequencing Primer
(F):5'- CTGATTGACTTTGAGACTGAACCACC -3'
(R):5'- GGGTCTACCTTCCATTCACAGAG -3'

Posted On

2019-06-26