Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Slc44a2'

418169

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc44a2

Ensembl Gene

ENSMUSG00000057193

Gene Name

solute carrier family 44, member 2

Synonyms

1110028E10Rik, CTL2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

21320698-21355028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21346765 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 435 (T435I)

Ref Sequence

ENSEMBL: ENSMUSP00000151150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034697] [ENSMUST00000215574] [ENSMUST00000217461]

Predicted Effect

probably benign
Transcript: ENSMUST00000034697
AA Change: T437I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: T437I

Domain	Start	End	E-Value	Type
Blast:CLECT	4	37	8e-8	BLAST
transmembrane domain	231	253	N/A	INTRINSIC
transmembrane domain	255	277	N/A	INTRINSIC
Pfam:Choline_transpo	319	678	3.9e-119	PFAM
low complexity region	691	702	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213499

Predicted Effect

probably benign
Transcript: ENSMUST00000213535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213758

Predicted Effect

probably benign
Transcript: ENSMUST00000214268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215528

Predicted Effect

probably benign
Transcript: ENSMUST00000215574
AA Change: T435I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217453

Predicted Effect

probably benign
Transcript: ENSMUST00000217461
AA Change: T435I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap1g2	G	A	14: 55,103,036	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Eno4	A	G	19: 58,962,816	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Igsf9	T	C	1: 172,490,743	I150T	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr530	T	A	7: 140,373,092	I173F	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pfpl	A	G	19: 12,428,877	N164S	probably benign	Het
Pi4kb	A	G	3: 94,984,764	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,652,968	A495D	possibly damaging	Het
Sept4	T	A	11: 87,585,245		probably benign	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Tekt2	T	A	4: 126,324,867	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Trmt1	A	G	8: 84,695,233	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	Het

Other mutations in Slc44a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Slc44a2	APN	9	21345935	missense	probably damaging	0.96
IGL01506:Slc44a2	APN	9	21337950	missense	probably benign	0.30
IGL01687:Slc44a2	APN	9	21345947	missense	probably benign	0.00
IGL01786:Slc44a2	APN	9	21352486	missense	probably damaging	1.00
IGL01795:Slc44a2	APN	9	21345349	missense	probably damaging	0.97
IGL02338:Slc44a2	APN	9	21347042	missense	probably damaging	1.00
IGL02701:Slc44a2	APN	9	21347951	missense	probably benign	0.01
IGL02820:Slc44a2	APN	9	21342977	missense	probably benign
IGL03153:Slc44a2	APN	9	21343200	missense	probably benign	0.44
IGL03233:Slc44a2	APN	9	21348622	missense	possibly damaging	0.95
Loaded	UTSW	9	21348149	critical splice donor site	probably null
R1177:Slc44a2	UTSW	9	21348583	missense	probably benign	0.00
R1367:Slc44a2	UTSW	9	21343026	missense	probably benign	0.00
R1474:Slc44a2	UTSW	9	21353694	missense	probably damaging	0.99
R2077:Slc44a2	UTSW	9	21353724	missense	probably damaging	1.00
R2432:Slc44a2	UTSW	9	21344834	missense	probably damaging	1.00
R3722:Slc44a2	UTSW	9	21342977	missense	possibly damaging	0.78
R3958:Slc44a2	UTSW	9	21348541	missense	probably damaging	0.96
R4557:Slc44a2	UTSW	9	21346783	missense	possibly damaging	0.93
R4641:Slc44a2	UTSW	9	21346882	missense	probably damaging	1.00
R4725:Slc44a2	UTSW	9	21348395	missense	probably damaging	1.00
R4859:Slc44a2	UTSW	9	21348145	missense	probably damaging	0.98
R6701:Slc44a2	UTSW	9	21320853	critical splice donor site	probably null
R7068:Slc44a2	UTSW	9	21320848	missense	probably benign	0.00
R7206:Slc44a2	UTSW	9	21346807	missense	probably damaging	1.00
R7233:Slc44a2	UTSW	9	21348149	critical splice donor site	probably null
R7287:Slc44a2	UTSW	9	21342456	missense	probably benign
R7329:Slc44a2	UTSW	9	21342752	missense	probably damaging	1.00
R7432:Slc44a2	UTSW	9	21343215	missense	probably benign	0.00
R7442:Slc44a2	UTSW	9	21345523	missense	probably damaging	1.00
R7448:Slc44a2	UTSW	9	21348346	missense	possibly damaging	0.87
R7514:Slc44a2	UTSW	9	21342472	missense	possibly damaging	0.46
R7523:Slc44a2	UTSW	9	21345992	missense	probably null	0.81
R8167:Slc44a2	UTSW	9	21346772	missense	possibly damaging	0.67
R8211:Slc44a2	UTSW	9	21348138	missense	probably damaging	1.00
R8240:Slc44a2	UTSW	9	21342185	missense	probably benign
R8293:Slc44a2	UTSW	9	21353688	missense	probably damaging	1.00
R8294:Slc44a2	UTSW	9	21348347	missense	probably damaging	1.00
R8341:Slc44a2	UTSW	9	21342199	missense	probably benign	0.00
R8471:Slc44a2	UTSW	9	21341969	missense	probably null	0.08
X0018:Slc44a2	UTSW	9	21342788	missense	probably damaging	0.99

Posted On

2016-08-02