Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03007:9330159F19Rik'

407597

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9330159F19Rik

Ensembl Gene

ENSMUSG00000004360

Gene Name

RIKEN cDNA 9330159F19 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL03007

Quality Score

Status

Chromosome

Chromosomal Location

29211606-29230779 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29222038 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 144 (N144D)

Ref Sequence

ENSEMBL: ENSMUSP00000149712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092627] [ENSMUST00000213489] [ENSMUST00000213490] [ENSMUST00000217011]

Predicted Effect

probably benign
Transcript: ENSMUST00000092627
AA Change: N144D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000090291
Gene: ENSMUSG00000004360
AA Change: N144D

Domain	Start	End	E-Value	Type
Pfam:DUF4482	15	152	3e-43	PFAM
low complexity region	270	286	N/A	INTRINSIC
low complexity region	616	635	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213489
AA Change: N144D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213490
AA Change: N144D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000217011

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	A	5: 107,503,676	V145E	probably benign	Het
A830031A19Rik	T	C	11: 24,049,248		probably benign	Het
Ankfy1	T	C	11: 72,750,521	F640S	probably damaging	Het
Asb8	A	G	15: 98,142,734	Y16H	probably damaging	Het
Astn1	T	C	1: 158,668,623		probably benign	Het
Celf3	A	G	3: 94,487,137	T183A	probably benign	Het
Dctn1	T	C	6: 83,182,708	V56A	probably damaging	Het
Erbb2	A	C	11: 98,428,993		probably benign	Het
Ighv6-4	A	T	12: 114,406,593	Y80N	possibly damaging	Het
Igsf9b	T	C	9: 27,333,082	S782P	probably damaging	Het
Itsn1	A	T	16: 91,784,162		probably benign	Het
Kcnt2	T	A	1: 140,354,507	Y77N	possibly damaging	Het
Lig3	T	C	11: 82,789,575	F359S	probably damaging	Het
Mtmr6	G	T	14: 60,289,535		probably benign	Het
Muc4	C	T	16: 32,752,048	S642F	possibly damaging	Het
Ncoa1	T	A	12: 4,339,114	I54F	possibly damaging	Het
Nfx1	C	A	4: 40,984,962	T362K	probably benign	Het
Ntrk1	T	C	3: 87,782,743	S449G	possibly damaging	Het
Odc1	T	A	12: 17,548,810	H230Q	probably benign	Het
Olfr26	C	T	9: 38,855,296	T78I	probably damaging	Het
Olfr348	T	C	2: 36,786,800	S92P	probably damaging	Het
Olfr63	A	G	17: 33,268,883	E53G	probably damaging	Het
Olfr963	T	C	9: 39,669,471	V138A	possibly damaging	Het
Plekhh2	A	C	17: 84,574,960	S665R	possibly damaging	Het
Qpct	T	A	17: 79,070,865	F155I	probably damaging	Het
Rcor2	C	A	19: 7,274,353	T379K	probably benign	Het
Rint1	A	G	5: 23,815,701	N574S	probably benign	Het
Rsbn1	C	T	3: 103,928,879	A411V	probably damaging	Het
Sbno2	A	T	10: 80,058,550		probably benign	Het
Sptb	A	G	12: 76,621,341	S661P	probably damaging	Het
Syn3	A	T	10: 86,064,914	M370K	possibly damaging	Het
Tex101	G	A	7: 24,670,481		probably benign	Het
Tmem255b	C	T	8: 13,457,066	T265I	possibly damaging	Het
Trio	G	T	15: 27,902,742	A211D	probably damaging	Het
Zfp638	C	A	6: 83,984,884	Q1902K	probably damaging	Het

Other mutations in 9330159F19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:9330159F19Rik	APN	10	29227328	missense	probably benign	0.13
IGL01766:9330159F19Rik	APN	10	29224561	missense	probably benign	0.00
IGL01896:9330159F19Rik	APN	10	29225158	missense	possibly damaging	0.84
IGL01988:9330159F19Rik	APN	10	29225111	missense	probably benign	0.08
PIT1430001:9330159F19Rik	UTSW	10	29224715	missense	probably damaging	1.00
R0256:9330159F19Rik	UTSW	10	29222256	missense	probably damaging	1.00
R0490:9330159F19Rik	UTSW	10	29227342	missense	probably damaging	0.99
R1755:9330159F19Rik	UTSW	10	29222294	missense	possibly damaging	0.92
R1759:9330159F19Rik	UTSW	10	29218276	missense	possibly damaging	0.51
R1836:9330159F19Rik	UTSW	10	29221799	missense	probably damaging	0.98
R2373:9330159F19Rik	UTSW	10	29225043	missense	probably benign	0.00
R2511:9330159F19Rik	UTSW	10	29221906	missense	probably damaging	0.96
R3113:9330159F19Rik	UTSW	10	29224376	nonsense	probably null
R3755:9330159F19Rik	UTSW	10	29222114	missense	probably damaging	0.98
R3954:9330159F19Rik	UTSW	10	29224809	missense	possibly damaging	0.92
R3956:9330159F19Rik	UTSW	10	29224809	missense	possibly damaging	0.92
R3957:9330159F19Rik	UTSW	10	29224809	missense	possibly damaging	0.92
R4321:9330159F19Rik	UTSW	10	29224891	missense	probably damaging	1.00
R4510:9330159F19Rik	UTSW	10	29224823	missense	probably benign
R4511:9330159F19Rik	UTSW	10	29224823	missense	probably benign
R4717:9330159F19Rik	UTSW	10	29221787	missense	probably damaging	1.00
R5336:9330159F19Rik	UTSW	10	29224499	missense	probably damaging	0.98
R5401:9330159F19Rik	UTSW	10	29225140	missense	probably benign	0.03
R5585:9330159F19Rik	UTSW	10	29225275	missense	possibly damaging	0.95
R5635:9330159F19Rik	UTSW	10	29218277	missense	possibly damaging	0.93
R5647:9330159F19Rik	UTSW	10	29225254	missense	probably damaging	0.99
R6831:9330159F19Rik	UTSW	10	29224679	missense	probably benign	0.44
R7085:9330159F19Rik	UTSW	10	29224480	missense	probably damaging	0.96
R7779:9330159F19Rik	UTSW	10	29225320	missense	probably damaging	1.00
R7813:9330159F19Rik	UTSW	10	29224900	missense	probably benign	0.41
R8209:9330159F19Rik	UTSW	10	29218199	missense	probably damaging	0.99
R8224:9330159F19Rik	UTSW	10	29218253	missense	probably damaging	1.00
R8226:9330159F19Rik	UTSW	10	29218199	missense	probably damaging	0.99
R8492:9330159F19Rik	UTSW	10	29218247	missense	possibly damaging	0.95

Posted On

2016-08-02