Mutagenetix > Incidental Mutation

Incidental Mutation 'R3842:Slc44a5'

277194

Institutional Source

Beutler Lab

Gene Symbol

Slc44a5

Ensembl Gene

ENSMUSG00000028360

Gene Name

solute carrier family 44, member 5

Synonyms

LOC242259

MMRRC Submission

040782-MU

Accession Numbers

Essential gene?

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

Stock #

R3842 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153679073-153977359 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 153967031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087394 (fasta)

Gene Model

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

AlphaFold

Q5RJI2

Predicted Effect

probably benign
Transcript: ENSMUST00000089948

SMART Domains

Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144677

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	C	T	14: 8,251,543 (GRCm38)	R318H	probably damaging	Het
Adamts16	T	C	13: 70,887,010 (GRCm39)	Y958C	possibly damaging	Het
Apol7e	A	G	15: 77,601,789 (GRCm39)	E129G	probably damaging	Het
Bmp2k	A	G	5: 97,235,010 (GRCm39)		probably benign	Het
Camk2g	T	C	14: 20,814,966 (GRCm39)	H26R	probably damaging	Het
Cpn2	A	G	16: 30,079,336 (GRCm39)	S122P	probably damaging	Het
Dhcr24	G	T	4: 106,443,002 (GRCm39)	G346C	probably damaging	Het
Egf	G	A	3: 129,491,442 (GRCm39)	R351*	probably null	Het
Exosc10	T	A	4: 148,648,322 (GRCm39)	Y260*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam83h	C	T	15: 75,874,499 (GRCm39)	R946K	probably benign	Het
Fbxo30	A	G	10: 11,165,856 (GRCm39)	S193G	probably damaging	Het
Grik3	T	C	4: 125,587,747 (GRCm39)		probably benign	Het
Gtf3c6	A	T	10: 40,130,317 (GRCm39)		probably null	Het
Hivep1	T	C	13: 42,311,203 (GRCm39)	S1148P	probably benign	Het
Hmgb2	T	A	8: 57,966,388 (GRCm39)	S121T	probably benign	Het
Hyal2	T	C	9: 107,449,320 (GRCm39)	S359P	probably damaging	Het
Itgbl1	A	G	14: 124,077,977 (GRCm39)	T156A	possibly damaging	Het
Lrrk2	C	A	15: 91,640,119 (GRCm39)	Q1555K	probably benign	Het
Myom1	T	C	17: 71,352,619 (GRCm39)	V349A	probably damaging	Het
Naa40	A	T	19: 7,207,174 (GRCm39)		probably benign	Het
Ncam2	A	G	16: 81,231,698 (GRCm39)	Y54C	probably damaging	Het
Nemf	C	T	12: 69,378,723 (GRCm39)	S533N	probably damaging	Het
Nkain1	T	A	4: 130,537,296 (GRCm38)	I80F	probably damaging	Het
Or10ak12	A	G	4: 118,666,452 (GRCm39)	V203A	probably damaging	Het
Or2ag13	G	A	7: 106,473,302 (GRCm39)	T50I	probably benign	Het
Or9k2	G	A	10: 129,998,770 (GRCm39)	R142C	probably benign	Het
Pde3b	T	C	7: 114,126,102 (GRCm39)	S779P	probably damaging	Het
Prkar2a	A	G	9: 108,605,467 (GRCm39)	Y175C	probably damaging	Het
Smgc	T	A	15: 91,744,460 (GRCm39)		probably benign	Het
Tasp1	T	A	2: 139,793,421 (GRCm39)	S252C	probably damaging	Het
Tgfbrap1	A	T	1: 43,098,314 (GRCm39)	Y489N	probably damaging	Het
Topors	C	T	4: 40,262,123 (GRCm39)	R387H	probably benign	Het
Ttn	A	G	2: 76,619,963 (GRCm39)	S15902P	probably damaging	Het
Ttn	T	C	2: 76,680,647 (GRCm39)		probably null	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
R2293:Slc44a5	UTSW	3	153,945,934 (GRCm39)	missense	probably benign	0.01
R2367:Slc44a5	UTSW	3	153,953,446 (GRCm39)	missense	possibly damaging	0.94
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'- AAGGCTGATGTCATTGAGTCTG -3'
(R):5'- TCCCCTCAAATGTAATACTATCTCAAG -3'

Sequencing Primer
(F):5'- GGTTTTACTGCTGTGAACAGACACC -3'
(R):5'- CTCAAGAAAAGTGCAGCCCTGATTG -3'

Posted On

2015-04-06