Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03001:A830010M20Rik'

407321

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A830010M20Rik

Ensembl Gene

ENSMUSG00000111375

Gene Name

RIKEN cDNA A830010M20 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

107437997-107511207 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107497842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 9 (I9T)

Ref Sequence

ENSEMBL: ENSMUSP00000114881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060553] [ENSMUST00000100951] [ENSMUST00000112671] [ENSMUST00000152474] [ENSMUST00000211896]

AlphaFold

D3YUB6
Q80TK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000060553
AA Change: I9T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100951
AA Change: I9T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: I9T

Domain	Start	End	E-Value	Type
low complexity region	340	353	N/A	INTRINSIC
low complexity region	698	709	N/A	INTRINSIC
low complexity region	946	957	N/A	INTRINSIC
Pfam:DUF4596	1195	1239	2.6e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112671
AA Change: I9T

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

SMART Domains

Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: I9T

Domain	Start	End	E-Value	Type
low complexity region	340	353	N/A	INTRINSIC
low complexity region	698	709	N/A	INTRINSIC
low complexity region	946	957	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000152474
AA Change: I9T

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

SMART Domains

Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375
AA Change: I9T

Domain	Start	End	E-Value	Type
low complexity region	339	352	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000211896
AA Change: I521T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	C	7: 79,111,294	D1918A	probably damaging	Het
Ahcy	C	A	2: 155,064,828	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602	M53L	probably benign	Het
Aqr	T	C	2: 114,146,919	D363G	probably benign	Het
Asxl3	A	G	18: 22,517,398	R815G	probably damaging	Het
Atf4	T	A	15: 80,256,657	W83R	probably damaging	Het
Baz1a	A	T	12: 54,923,111	M587K	possibly damaging	Het
Cactin	T	A	10: 81,325,734	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,725,079	S95G	probably benign	Het
Cbwd1	T	C	19: 24,922,638	K301E	probably benign	Het
Cd1d1	C	T	3: 86,998,161	S175N	probably benign	Het
Chd4	C	A	6: 125,101,566	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,333,634		probably null	Het
Cntnap5c	G	A	17: 58,055,639	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,633,673	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,807,744	D238V	unknown	Het
Cuedc1	T	C	11: 88,182,489	V160A	probably benign	Het
Depdc5	T	C	5: 32,945,090	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,149,140	D1338G	probably benign	Het
Dpyd	T	C	3: 118,917,242	V433A	probably benign	Het
Epb41l5	T	C	1: 119,617,644	H179R	probably damaging	Het
Fbf1	T	C	11: 116,165,886		probably benign	Het
Flnb	T	C	14: 7,934,680	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,990,624		probably benign	Het
Grin2b	C	T	6: 135,739,115	V735M	probably damaging	Het
Itpr3	T	G	17: 27,089,612		probably benign	Het
Lingo4	C	T	3: 94,402,396	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,927,889	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,015,993	L342P	probably damaging	Het
Mmp15	T	C	8: 95,368,217	S240P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747	N95K	probably benign	Het
Nms	C	T	1: 38,941,912	P60S	probably benign	Het
Npas3	A	T	12: 53,501,192	Y77F	probably damaging	Het
Olfr1158	T	A	2: 87,990,149	Y13N	probably benign	Het
Olfr1173	T	A	2: 88,274,845	D68V	probably damaging	Het
Olfr1412	T	A	1: 92,588,551	S74T	probably damaging	Het
Olfr320	T	G	11: 58,683,876	M1R	probably null	Het
Olfr561	G	T	7: 102,775,253	C243F	probably damaging	Het
Olfr926	A	G	9: 38,878,078	M301V	probably benign	Het
Picalm	T	C	7: 90,182,246	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,558,004	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,244,326	M286I	probably benign	Het
Popdc2	A	T	16: 38,369,519	Y176F	probably benign	Het
Psg21	A	T	7: 18,652,485	M192K	probably benign	Het
Psma1	C	A	7: 114,266,439	A219S	probably benign	Het
Rad21l	T	G	2: 151,668,469	H22P	probably damaging	Het
Rnf213	A	G	11: 119,479,941	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,821,626	V1609A	probably benign	Het
Sema3e	T	A	5: 14,241,043	S606T	probably benign	Het
Slc16a4	A	T	3: 107,311,542	R486S	possibly damaging	Het
Slc17a3	T	C	13: 23,856,784	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,353,815	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,337,053	I173V	probably benign	Het
Synpo2	T	C	3: 123,079,955	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,528,421	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,211,644	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,087,895	I631V	probably damaging	Het
Tor2a	C	A	2: 32,757,317	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,734,923	N19993S	probably benign	Het
Vps53	T	C	11: 76,138,324	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,814,669	W69R	probably damaging	Het
Zswim8	T	C	14: 20,714,391	S610P	probably damaging	Het

Other mutations in A830010M20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01911:A830010M20Rik	APN	5	107508580	missense	probably damaging	1.00
IGL02638:A830010M20Rik	APN	5	107508556	missense	possibly damaging	0.87
IGL03007:A830010M20Rik	APN	5	107503676	missense	probably benign	0.37
IGL03008:A830010M20Rik	APN	5	107491598	splice site	probably null
IGL03281:A830010M20Rik	APN	5	107503876	missense	probably benign	0.02
R0206:A830010M20Rik	UTSW	5	107505040	missense	probably benign	0.00
R0426:A830010M20Rik	UTSW	5	107510373	missense	probably damaging	1.00
R0765:A830010M20Rik	UTSW	5	107506934	missense	probably benign	0.14
R1747:A830010M20Rik	UTSW	5	107451999	missense	probably damaging	1.00
R2013:A830010M20Rik	UTSW	5	107510789	missense	probably damaging	0.99
R2338:A830010M20Rik	UTSW	5	107510574	missense	probably damaging	0.99
R3963:A830010M20Rik	UTSW	5	107507356	missense	probably damaging	0.99
R4460:A830010M20Rik	UTSW	5	107503765	missense	possibly damaging	0.74
R4776:A830010M20Rik	UTSW	5	107510451	missense	probably damaging	0.99
R4909:A830010M20Rik	UTSW	5	107507310	nonsense	probably null
R5105:A830010M20Rik	UTSW	5	107510471	missense	possibly damaging	0.70
R5155:A830010M20Rik	UTSW	5	107490703	missense	probably damaging	0.96
R6089:A830010M20Rik	UTSW	5	107507029	missense	probably damaging	0.99
R7282:A830010M20Rik	UTSW	5	107507196	missense	probably benign
R7282:A830010M20Rik	UTSW	5	107510505	missense	probably damaging	0.99
R7492:A830010M20Rik	UTSW	5	107510507	missense	probably benign	0.01
R8087:A830010M20Rik	UTSW	5	107485087	missense	probably damaging	1.00
R8694:A830010M20Rik	UTSW	5	107510769	missense	probably benign	0.02
R8777:A830010M20Rik	UTSW	5	107510427	missense	probably damaging	0.99
R8777-TAIL:A830010M20Rik	UTSW	5	107510427	missense	probably damaging	0.99
R8788:A830010M20Rik	UTSW	5	107470987	makesense	probably null
R9240:A830010M20Rik	UTSW	5	107452168	missense	probably benign	0.17
R9584:A830010M20Rik	UTSW	5	107510481	missense	probably benign	0.40

Posted On

2016-08-02