Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:9530068E07Rik'

102158

Institutional Source

Beutler Lab

Gene Symbol

9530068E07Rik

Ensembl Gene

ENSMUSG00000036275

Gene Name

RIKEN cDNA 9530068E07 gene

Synonyms

MMRRC Submission

039258-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52396428-52408728 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52403078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 49 (V49I)

Ref Sequence

ENSEMBL: ENSMUSP00000104685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036952] [ENSMUST00000109057]

AlphaFold

Q8K201

Predicted Effect

probably benign
Transcript: ENSMUST00000036952
AA Change: V57I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000048441
Gene: ENSMUSG00000036275
AA Change: V57I

Domain	Start	End	E-Value	Type
signal peptide	1	44	N/A	INTRINSIC
low complexity region	82	116	N/A	INTRINSIC
transmembrane domain	192	211	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109057
AA Change: V49I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104685
Gene: ENSMUSG00000036275
AA Change: V49I

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
low complexity region	74	108	N/A	INTRINSIC
transmembrane domain	184	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153855

Meta Mutation Damage Score

0.0721

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,621,652 (GRCm38)	R64Q	probably benign	Het
4932438A13Rik	T	C	3: 36,996,312 (GRCm38)		probably benign	Het
A2m	T	C	6: 121,661,534 (GRCm38)	S902P	probably benign	Het
Aatf	A	T	11: 84,470,549 (GRCm38)		probably benign	Het
Adamtsl1	A	G	4: 86,388,509 (GRCm38)	T1395A	probably benign	Het
Alpk2	T	C	18: 65,294,341 (GRCm38)		probably null	Het
Ank3	G	T	10: 69,867,460 (GRCm38)	A308S	probably damaging	Het
Arap1	A	G	7: 101,404,269 (GRCm38)		probably benign	Het
C4b	T	C	17: 34,736,309 (GRCm38)	D769G	possibly damaging	Het
Cep350	A	G	1: 155,875,376 (GRCm38)	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,875,994 (GRCm38)	I2704F	unknown	Het
Crip2	G	A	12: 113,144,959 (GRCm38)		probably benign	Het
Cyp4f14	T	C	17: 32,916,786 (GRCm38)	I34V	probably benign	Het
Dcstamp	A	G	15: 39,754,629 (GRCm38)		probably null	Het
Ddx5	T	C	11: 106,783,979 (GRCm38)		probably null	Het
Dnah2	A	T	11: 69,515,700 (GRCm38)	L572Q	probably damaging	Het
Espl1	G	A	15: 102,304,039 (GRCm38)	A527T	probably benign	Het
Fam83d	A	G	2: 158,785,174 (GRCm38)	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,530,586 (GRCm38)	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,533,405 (GRCm38)		probably benign	Het
Galnt17	G	T	5: 131,111,742 (GRCm38)	T179K	probably damaging	Het
Gm6768	A	C	12: 119,261,471 (GRCm38)		noncoding transcript	Het
Gm6899	C	T	11: 26,593,685 (GRCm38)		probably benign	Het
Helz2	T	A	2: 181,231,128 (GRCm38)	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,814,723 (GRCm38)		probably benign	Het
Hsh2d	G	A	8: 72,200,460 (GRCm38)	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326 (GRCm38)	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,694,583 (GRCm38)	I195T	probably benign	Het
Isyna1	C	A	8: 70,595,201 (GRCm38)	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,078,008 (GRCm38)	F75S	probably benign	Het
Ly96	A	G	1: 16,700,894 (GRCm38)	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,878,269 (GRCm38)	T243A	probably damaging	Het
Mcc	A	G	18: 44,759,403 (GRCm38)	V48A	probably benign	Het
Mcpt2	C	T	14: 56,043,945 (GRCm38)		probably benign	Het
Med24	T	C	11: 98,717,757 (GRCm38)		probably benign	Het
Mtbp	G	A	15: 55,564,671 (GRCm38)	G162S	probably null	Het
Mtfr2	G	A	10: 20,352,852 (GRCm38)	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,162,037 (GRCm38)		probably null	Het
Naip2	C	T	13: 100,161,981 (GRCm38)	A516T	possibly damaging	Het
Nup107	A	C	10: 117,777,146 (GRCm38)	Y292*	probably null	Het
Nwd2	C	T	5: 63,650,024 (GRCm38)		probably benign	Het
Nxpe4	A	C	9: 48,393,392 (GRCm38)	N260H	probably benign	Het
Ofcc1	C	T	13: 40,208,829 (GRCm38)	G206R	probably benign	Het
Olfr1084	A	T	2: 86,639,463 (GRCm38)	L82M	probably damaging	Het
Olfr5	T	C	7: 6,480,542 (GRCm38)	I205V	probably benign	Het
Olfr901	T	C	9: 38,431,101 (GRCm38)	V273A	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,524,157 (GRCm38)	S142P	probably damaging	Het
P2rx7	T	C	5: 122,670,451 (GRCm38)	Y299H	probably damaging	Het
Per3	T	A	4: 151,026,138 (GRCm38)	E401V	probably damaging	Het
Rbm34	C	A	8: 126,965,447 (GRCm38)	E182*	probably null	Het
Sdk2	C	T	11: 113,838,646 (GRCm38)		silent	Het
Senp2	T	C	16: 22,011,504 (GRCm38)	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,164,231 (GRCm38)		probably null	Het
Spred1	A	T	2: 117,177,697 (GRCm38)	R361S	possibly damaging	Het
Spry2	A	G	14: 105,892,907 (GRCm38)	C282R	probably damaging	Het
Srp54b	T	C	12: 55,255,528 (GRCm38)		probably benign	Het
Taar8c	G	C	10: 24,101,565 (GRCm38)	Y116*	probably null	Het
Tchh	C	G	3: 93,448,046 (GRCm38)	R1598G	unknown	Het
Tex15	A	G	8: 33,571,633 (GRCm38)	M364V	probably benign	Het
Ttbk1	T	C	17: 46,467,131 (GRCm38)	R662G	probably damaging	Het
Ttc5	G	A	14: 50,767,226 (GRCm38)	Q374*	probably null	Het
Usp46	C	T	5: 74,002,122 (GRCm38)	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,835,626 (GRCm38)	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,893,892 (GRCm38)	R122*	probably null	Het
Vmn2r6	T	A	3: 64,565,067 (GRCm38)	M78L	probably benign	Het
Zfp407	A	T	18: 84,209,448 (GRCm38)	I2012N	probably benign	Het
Zfp980	G	A	4: 145,702,083 (GRCm38)	G461S	probably benign	Het
Zfyve26	G	A	12: 79,263,949 (GRCm38)	L161F	probably damaging	Het

Other mutations in 9530068E07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01408:9530068E07Rik	APN	11	52,403,366 (GRCm38)	missense	probably damaging	0.99
IGL02133:9530068E07Rik	APN	11	52,403,510 (GRCm38)	missense	probably damaging	1.00
IGL02962:9530068E07Rik	APN	11	52,403,535 (GRCm38)	missense	possibly damaging	0.94
IGL03116:9530068E07Rik	APN	11	52,403,504 (GRCm38)	missense	probably benign	0.14
R7357:9530068E07Rik	UTSW	11	52,406,994 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAGGCTGACCTGAAAGCTGATG -3'
(R):5'- TGCTCTCCTTGCTGATGGCAATG -3'

Sequencing Primer
(F):5'- AGGCTGTTCAGGCCATTAC -3'
(R):5'- CGTAGTCGCCATTGTCCAG -3'

Posted On

2014-01-15