Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02701:Slc44a2'

304122

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 #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

21320698-21355028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21347951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 554 (F554L)

Ref Sequence

ENSEMBL: ENSMUSP00000034697 (fasta)

Gene Model

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

AlphaFold

Q8BY89

Predicted Effect

probably benign
Transcript: ENSMUST00000034697
AA Change: F554L

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

SMART Domains

Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: F554L

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

unknown
Transcript: ENSMUST00000214268
AA Change: F11L

Predicted Effect

unknown
Transcript: ENSMUST00000215574
AA Change: V549A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217453

Predicted Effect

probably benign
Transcript: ENSMUST00000217461
AA Change: F552L

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Gm813	G	A	16: 58,615,807	S51L	probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Itga5	A	C	15: 103,347,766	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,741,772	E363G	probably benign	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357	V178A	probably damaging	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plekhg5	T	C	4: 152,103,022	S82P	probably damaging	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,316,649		probably null	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Thbs2	T	C	17: 14,683,361	I353V	probably benign	Het
Tspan4	G	A	7: 141,492,028	V205M	probably damaging	Het
Vezf1	A	T	11: 88,076,221	R93*	probably null	Het
Wwox	T	A	8: 114,706,368	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,444,755		probably benign	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
IGL02820:Slc44a2	APN	9	21342977	missense	probably benign
IGL03087:Slc44a2	APN	9	21346765	missense	probably benign	0.00
IGL03153:Slc44a2	APN	9	21343200	missense	probably benign	0.44
IGL03233:Slc44a2	APN	9	21348622	missense	possibly damaging	0.95
freighted	UTSW	9	21341969	missense	probably null	0.08
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
R8732:Slc44a2	UTSW	9	21348586	missense	probably benign	0.01
R8892:Slc44a2	UTSW	9	21341857	splice site	probably benign
R9019:Slc44a2	UTSW	9	21353781	missense	probably damaging	0.99
R9149:Slc44a2	UTSW	9	21342009	missense	possibly damaging	0.67
R9318:Slc44a2	UTSW	9	21341972	missense	probably damaging	1.00
R9322:Slc44a2	UTSW	9	21346950	missense	probably damaging	1.00
R9449:Slc44a2	UTSW	9	21347037	missense
R9731:Slc44a2	UTSW	9	21352474	missense	possibly damaging	0.90
X0018:Slc44a2	UTSW	9	21342788	missense	probably damaging	0.99

Posted On

2015-04-16