Mutagenetix > Incidental Mutations

Incidental Mutation 'R1673:Slc44a1'

187791

Institutional Source

Beutler Lab

Gene Symbol

Slc44a1

Ensembl Gene

ENSMUSG00000028412

Gene Name

solute carrier family 44, member 1

Synonyms

Cdw92, 4833416H08Rik, CHTL1, CTL1, 2210409B22Rik

MMRRC Submission

039709-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53440413-53622478 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53542468 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 334 (V334A)

Ref Sequence

ENSEMBL: ENSMUSP00000103274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102911] [ENSMUST00000107645] [ENSMUST00000107646] [ENSMUST00000107647] [ENSMUST00000107651]

Predicted Effect

probably benign
Transcript: ENSMUST00000102911
AA Change: V334A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099975
Gene: ENSMUSG00000028412
AA Change: V334A

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC
Pfam:Choline_transpo	290	610	2.4e-107	PFAM
low complexity region	630	643	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107645
AA Change: V127A

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

SMART Domains

Protein: ENSMUSP00000103272
Gene: ENSMUSG00000028412
AA Change: V127A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	33	55	N/A	INTRINSIC
Pfam:Choline_transpo	83	403	4.8e-108	PFAM
low complexity region	423	436	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107646
AA Change: V334A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000103273
Gene: ENSMUSG00000028412
AA Change: V334A

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC
Pfam:Choline_transpo	290	500	4.9e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107647
AA Change: V334A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103274
Gene: ENSMUSG00000028412
AA Change: V334A

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC
Pfam:Choline_transpo	292	607	1.8e-105	PFAM
low complexity region	630	643	N/A	INTRINSIC
transmembrane domain	682	704	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107651
AA Change: V334A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000103278
Gene: ENSMUSG00000028412
AA Change: V334A

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC
Pfam:Choline_transpo	290	610	3.5e-108	PFAM
low complexity region	630	643	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,212,339	S809G	probably benign	Het
Ap4b1	T	A	3: 103,817,845		probably null	Het
Aqp12	A	G	1: 93,006,884	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 59,791,240	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,299,990	N314I	probably damaging	Het
Cd209d	A	G	8: 3,877,113	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,178,021	K554*	probably null	Het
Celsr1	A	G	15: 85,932,457	Y1762H	probably benign	Het
Cklf	A	G	8: 104,257,351	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,693,538	I755L	probably benign	Het
Cts3	G	A	13: 61,567,554	Q140*	probably null	Het
Ddx1	A	T	12: 13,244,966		probably null	Het
Dnah3	C	A	7: 119,971,179	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,148	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,331,504	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,151,853	F25L	probably damaging	Het
Efhd1	T	A	1: 87,264,682	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,793,818		probably null	Het
Elp2	T	A	18: 24,611,926	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,910,196		probably null	Het
F5	A	G	1: 164,179,520	T298A	probably damaging	Het
Fam208b	A	G	13: 3,584,498		probably null	Het
Fbxo21	G	T	5: 118,008,064	R584L	probably benign	Het
Fbxw22	G	T	9: 109,382,128	F368L	possibly damaging	Het
Gcn1l1	T	C	5: 115,582,297	I409T	probably benign	Het
Gm10260	A	T	13: 97,760,360	Y77N	possibly damaging	Het
Gm12887	T	C	4: 121,616,458	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637	Q224*	probably null	Het
Hdac5	C	T	11: 102,198,805	V860M	probably damaging	Het
Ino80	G	A	2: 119,381,936	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,820	I110F	probably damaging	Het
Lrig3	A	G	10: 126,010,167	T822A	probably damaging	Het
Mapk6	T	C	9: 75,395,569	D214G	probably damaging	Het
Mcm2	A	T	6: 88,892,078	L264Q	probably benign	Het
Mpnd	A	T	17: 56,010,455	Y64F	probably damaging	Het
Muc1	T	A	3: 89,231,772	M520K	possibly damaging	Het
Muc4	T	A	16: 32,756,902	S189T	probably benign	Het
Myh13	T	C	11: 67,352,119	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,830,479	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,695	I116T	probably damaging	Het
Nptn	T	C	9: 58,623,732	L46P	probably benign	Het
Olfr11	A	T	13: 21,639,044	S160T	probably damaging	Het
Olfr1283	A	G	2: 111,369,207	T192A	probably benign	Het
Olfr290	T	A	7: 84,916,117	F113I	probably damaging	Het
Olfr610	C	A	7: 103,506,689	V86F	probably damaging	Het
Pgr	A	T	9: 8,902,068	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,872,282		probably null	Het
Pkd1l2	C	G	8: 117,040,775	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,249,565	E457G	probably damaging	Het
Rasa4	T	A	5: 136,104,637	V650D	probably benign	Het
Rem2	C	T	14: 54,476,309		probably benign	Het
Sdc1	G	A	12: 8,790,409	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,948,506	E366G	possibly damaging	Het
Setd2	T	A	9: 110,604,180	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,813,383	V397A	probably benign	Het
Slc36a2	A	T	11: 55,184,913	L16H	possibly damaging	Het
Sox8	A	T	17: 25,567,482	Y416N	possibly damaging	Het
Speg	T	C	1: 75,411,163	V1416A	possibly damaging	Het
Stk24	T	A	14: 121,337,571	I42F	probably damaging	Het
Tcerg1	T	A	18: 42,552,581	L661Q	possibly damaging	Het
Tmem110	T	C	14: 30,864,434	L72S	possibly damaging	Het
Tpp1	G	A	7: 105,747,673	R417W	probably damaging	Het
Trim12a	T	A	7: 104,306,057	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,942,944	N396S	probably benign	Het
Ttn	T	C	2: 76,807,083	K5695R	probably damaging	Het
Ttn	G	A	2: 76,810,287	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,333,943		probably null	Het
Uaca	T	A	9: 60,872,156	L1273H	probably damaging	Het
Usp33	A	G	3: 152,368,282	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,616,211		probably null	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,446,354	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 34,896,308		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 34,896,310		probably null	Het
Zfp408	G	A	2: 91,646,008	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,588,493	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,347,653	T638A	probably benign	Het
Zfp932	G	T	5: 110,008,988	G151V	probably damaging	Het
Zpbp	T	C	11: 11,352,696	K320E	probably damaging	Het
Zranb2	C	T	3: 157,537,640	P91L	probably damaging	Het

Other mutations in Slc44a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Slc44a1	APN	4	53543571	missense	probably damaging	1.00
IGL00420:Slc44a1	APN	4	53553550	missense	possibly damaging	0.86
IGL01369:Slc44a1	APN	4	53491448	missense	probably damaging	1.00
IGL01867:Slc44a1	APN	4	53536405	missense	probably damaging	1.00
IGL02188:Slc44a1	APN	4	53541361	missense	probably benign	0.01
IGL03095:Slc44a1	APN	4	53536374	nonsense	probably null
R0517:Slc44a1	UTSW	4	53542366	missense	probably damaging	0.99
R0815:Slc44a1	UTSW	4	53536421	missense	possibly damaging	0.77
R1437:Slc44a1	UTSW	4	53561006	missense	probably damaging	1.00
R1443:Slc44a1	UTSW	4	53561069	missense	probably damaging	1.00
R2037:Slc44a1	UTSW	4	53563243	intron	probably benign
R2131:Slc44a1	UTSW	4	53563246	frame shift	probably null
R3417:Slc44a1	UTSW	4	53553549	missense	probably benign	0.04
R3721:Slc44a1	UTSW	4	53491445	missense	probably damaging	1.00
R3763:Slc44a1	UTSW	4	53563286	missense	probably benign	0.45
R4426:Slc44a1	UTSW	4	53563286	missense	probably benign	0.45
R4751:Slc44a1	UTSW	4	53560973	missense	probably damaging	1.00
R4993:Slc44a1	UTSW	4	53543644	missense	probably damaging	1.00
R5853:Slc44a1	UTSW	4	53528682	missense	probably benign	0.00
R6293:Slc44a1	UTSW	4	53561099	missense	probably damaging	1.00
R6978:Slc44a1	UTSW	4	53544671	missense	probably damaging	1.00
R7164:Slc44a1	UTSW	4	53528711	missense	probably benign	0.09
R7838:Slc44a1	UTSW	4	53517657	missense	probably benign	0.01
R8127:Slc44a1	UTSW	4	53528714	missense	probably benign	0.00
Z1176:Slc44a1	UTSW	4	53553504	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCACTTACAGACTCGATGCTCTC -3'
(R):5'- CTGTGAAGCAAGGCACAATGGC -3'

Sequencing Primer
(F):5'- TACAGACTCGATGCTCTCCTCTC -3'
(R):5'- ggaccaacaggctctcac -3'

Posted On

2014-05-09