Mutagenetix > Incidental Mutation

Incidental Mutation 'R2293:Slc44a5'

245069

Institutional Source

Beutler Lab

Gene Symbol

Slc44a5

Ensembl Gene

ENSMUSG00000028360

Gene Name

solute carrier family 44, member 5

Synonyms

LOC242259

MMRRC Submission

040292-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R2293 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153679073-153977359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 153945934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 156 (L156I)

Ref Sequence

ENSEMBL: ENSMUSP00000087394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089948]

AlphaFold

Q5RJI2

Predicted Effect

probably benign
Transcript: ENSMUST00000089948
AA Change: L156I

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

SMART Domains

Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: L156I

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC
transmembrane domain	263	285	N/A	INTRINSIC
Pfam:Choline_transpo	323	683	6.3e-114	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	T	C	7: 140,682,428 (GRCm39)	N640S	probably benign	Het
Aox4	T	A	1: 58,261,096 (GRCm39)	I143N	probably damaging	Het
Arhgef11	C	T	3: 87,635,297 (GRCm39)	R869C	probably damaging	Het
Bcl6	T	C	16: 23,796,359 (GRCm39)	N23D	probably damaging	Het
Brca2	T	A	5: 150,483,999 (GRCm39)	F2939L	possibly damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Cyp2j6	T	A	4: 96,417,670 (GRCm39)	T318S	possibly damaging	Het
Dlg5	A	C	14: 24,208,180 (GRCm39)	S1009A	probably benign	Het
Dlx6	A	G	6: 6,867,246 (GRCm39)	Y283C	probably damaging	Het
Dnah10	T	C	5: 124,896,285 (GRCm39)	Y3550H	probably damaging	Het
Dock7	T	C	4: 98,854,606 (GRCm39)	S1553G	probably damaging	Het
Ice1	C	A	13: 70,763,076 (GRCm39)	D193Y	probably damaging	Het
Mdga2	A	T	12: 66,615,759 (GRCm39)	L547*	probably null	Het
Mgat4a	C	A	1: 37,491,673 (GRCm39)	R215L	probably damaging	Het
Msantd2	A	G	9: 37,401,100 (GRCm39)	T69A	probably damaging	Het
Muc5ac	A	G	7: 141,360,936 (GRCm39)	T1416A	probably damaging	Het
Nup214	T	C	2: 31,916,887 (GRCm39)	S1181P	probably benign	Het
Pip5k1c	A	G	10: 81,149,918 (GRCm39)	E42G	possibly damaging	Het
Slc12a5	A	G	2: 164,834,250 (GRCm39)	E757G	probably benign	Het
Slc16a14	A	T	1: 84,890,564 (GRCm39)	M247K	probably benign	Het
Slc35b2	T	A	17: 45,878,067 (GRCm39)	V398E	probably damaging	Het
Trmt11	G	C	10: 30,423,744 (GRCm39)	P387R	probably damaging	Het

Other mutations in Slc44a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Slc44a5	APN	3	153,968,576 (GRCm39)	missense	probably damaging	1.00
IGL02187:Slc44a5	APN	3	153,968,554 (GRCm39)	missense	probably benign	0.00
IGL02219:Slc44a5	APN	3	153,944,796 (GRCm39)	missense	possibly damaging	0.76
IGL02220:Slc44a5	APN	3	153,956,608 (GRCm39)	missense	possibly damaging	0.94
IGL02314:Slc44a5	APN	3	153,962,156 (GRCm39)	missense	probably damaging	1.00
IGL02471:Slc44a5	APN	3	153,962,213 (GRCm39)	missense	probably damaging	1.00
IGL02869:Slc44a5	APN	3	153,956,651 (GRCm39)	missense	probably damaging	0.97
IGL03117:Slc44a5	APN	3	153,956,714 (GRCm39)	missense	probably benign	0.15
IGL03144:Slc44a5	APN	3	153,949,177 (GRCm39)	missense	possibly damaging	0.78
PIT4486001:Slc44a5	UTSW	3	153,964,659 (GRCm39)	missense	possibly damaging	0.50
R0026:Slc44a5	UTSW	3	153,945,907 (GRCm39)	splice site	probably benign
R0190:Slc44a5	UTSW	3	153,944,755 (GRCm39)	missense	probably null	0.00
R0306:Slc44a5	UTSW	3	153,975,638 (GRCm39)	missense	probably damaging	1.00
R0591:Slc44a5	UTSW	3	153,939,782 (GRCm39)	splice site	probably benign
R0744:Slc44a5	UTSW	3	153,971,111 (GRCm39)	missense	probably damaging	1.00
R0833:Slc44a5	UTSW	3	153,971,111 (GRCm39)	missense	probably damaging	1.00
R0919:Slc44a5	UTSW	3	153,949,223 (GRCm39)	missense	probably damaging	1.00
R1170:Slc44a5	UTSW	3	153,963,357 (GRCm39)	splice site	probably null
R1370:Slc44a5	UTSW	3	153,948,796 (GRCm39)	missense	probably benign	0.26
R1613:Slc44a5	UTSW	3	153,963,351 (GRCm39)	splice site	probably null
R1713:Slc44a5	UTSW	3	153,944,743 (GRCm39)	missense	probably damaging	0.97
R1999:Slc44a5	UTSW	3	153,964,130 (GRCm39)	missense	possibly damaging	0.61
R2143:Slc44a5	UTSW	3	153,964,086 (GRCm39)	missense	probably benign	0.01
R2367:Slc44a5	UTSW	3	153,953,446 (GRCm39)	missense	possibly damaging	0.94
R3842:Slc44a5	UTSW	3	153,967,031 (GRCm39)	splice site	probably benign
R3953:Slc44a5	UTSW	3	153,877,209 (GRCm39)	missense	probably benign	0.03
R4163:Slc44a5	UTSW	3	153,967,010 (GRCm39)	missense	possibly damaging	0.94
R4509:Slc44a5	UTSW	3	153,939,710 (GRCm39)	missense	probably damaging	1.00
R4657:Slc44a5	UTSW	3	153,962,221 (GRCm39)	missense	possibly damaging	0.81
R4936:Slc44a5	UTSW	3	153,959,353 (GRCm39)	missense	probably damaging	1.00
R4937:Slc44a5	UTSW	3	153,949,252 (GRCm39)	critical splice donor site	probably null
R5083:Slc44a5	UTSW	3	153,953,424 (GRCm39)	missense	probably benign	0.31
R5257:Slc44a5	UTSW	3	153,948,760 (GRCm39)	missense	probably damaging	1.00
R5580:Slc44a5	UTSW	3	153,966,922 (GRCm39)	missense	probably benign	0.03
R5586:Slc44a5	UTSW	3	153,975,802 (GRCm39)	utr 3 prime	probably benign
R5856:Slc44a5	UTSW	3	153,964,029 (GRCm39)	missense	possibly damaging	0.78
R5894:Slc44a5	UTSW	3	153,962,210 (GRCm39)	missense	probably damaging	1.00
R6228:Slc44a5	UTSW	3	153,944,800 (GRCm39)	missense	probably benign	0.00
R6248:Slc44a5	UTSW	3	153,969,678 (GRCm39)	missense	possibly damaging	0.93
R6413:Slc44a5	UTSW	3	153,963,387 (GRCm39)	missense	probably benign	0.21
R6454:Slc44a5	UTSW	3	153,948,796 (GRCm39)	missense	probably benign	0.26
R6594:Slc44a5	UTSW	3	153,964,660 (GRCm39)	missense	possibly damaging	0.85
R6761:Slc44a5	UTSW	3	153,945,714 (GRCm39)	splice site	probably null
R6931:Slc44a5	UTSW	3	153,964,143 (GRCm39)	missense	probably benign	0.03
R7027:Slc44a5	UTSW	3	153,959,356 (GRCm39)	missense	probably benign	0.00
R7566:Slc44a5	UTSW	3	153,975,626 (GRCm39)	missense	probably damaging	1.00
R7688:Slc44a5	UTSW	3	153,679,437 (GRCm39)	critical splice donor site	probably null
R8011:Slc44a5	UTSW	3	153,953,447 (GRCm39)	missense	possibly damaging	0.71
R8085:Slc44a5	UTSW	3	153,928,414 (GRCm39)	missense	probably damaging	1.00
R8460:Slc44a5	UTSW	3	153,975,667 (GRCm39)	missense	probably benign	0.00
R8765:Slc44a5	UTSW	3	153,968,561 (GRCm39)	missense	probably damaging	0.99
R9154:Slc44a5	UTSW	3	153,953,373 (GRCm39)	missense	probably benign	0.08
R9291:Slc44a5	UTSW	3	153,962,218 (GRCm39)	missense	possibly damaging	0.82
R9328:Slc44a5	UTSW	3	153,964,678 (GRCm39)	missense	probably benign	0.37
R9647:Slc44a5	UTSW	3	153,953,370 (GRCm39)	missense	possibly damaging	0.89
R9666:Slc44a5	UTSW	3	153,945,926 (GRCm39)	missense	probably benign	0.03
R9695:Slc44a5	UTSW	3	153,956,588 (GRCm39)	missense	probably damaging	0.99
R9758:Slc44a5	UTSW	3	153,959,322 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTTCATTTAGAGCATTTACAGGC -3'
(R):5'- GTCTCATAGAGCTCTGTTGGAATGG -3'

Sequencing Primer
(F):5'- GGCAGTGGGGAAATGATTT -3'
(R):5'- AGAGACAGCCCTCCTGACTG -3'

Posted On

2014-10-30