Mutagenetix > Incidental Mutation

Incidental Mutation 'R7838:Slc44a1'

606090

Institutional Source

Beutler Lab

Gene Symbol

Slc44a1

Ensembl Gene

ENSMUSG00000028412

Gene Name

solute carrier family 44, member 1

Synonyms

2210409B22Rik, CHTL1, Cdw92, 4833416H08Rik, CTL1

MMRRC Submission

045892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53440413-53622478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53517657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 127 (V127I)

Ref Sequence

ENSEMBL: ENSMUSP00000099975 (fasta)

Gene Model

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

AlphaFold

Q6X893

Predicted Effect

probably benign
Transcript: ENSMUST00000102911
AA Change: V127I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099975
Gene: ENSMUSG00000028412
AA Change: V127I

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: ENSMUST00000107646
AA Change: V127I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103273
Gene: ENSMUSG00000028412
AA Change: V127I

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: V127I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103274
Gene: ENSMUSG00000028412
AA Change: V127I

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: V127I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103278
Gene: ENSMUSG00000028412
AA Change: V127I

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	G	A	10: 87,042,061 (GRCm39)		probably null	Het
4930522H14Rik	G	A	4: 109,362,776 (GRCm39)	A181V	probably damaging	Het
Alk	A	T	17: 72,274,549 (GRCm39)	H587Q	possibly damaging	Het
Ascc3	A	G	10: 50,604,393 (GRCm39)	Y1371C	probably benign	Het
Asxl1	T	C	2: 153,238,733 (GRCm39)	F354S	probably damaging	Het
Cachd1	A	T	4: 100,824,211 (GRCm39)	I551F	possibly damaging	Het
Cacna1e	T	C	1: 154,347,149 (GRCm39)	E1068G	probably benign	Het
Cdc27	A	T	11: 104,403,830 (GRCm39)	M644K	probably damaging	Het
Chl1	T	C	6: 103,668,635 (GRCm39)	V456A	probably benign	Het
Ctxn1	A	G	8: 4,308,461 (GRCm39)	Y57H	probably damaging	Het
Cyp2c54	A	G	19: 40,058,688 (GRCm39)	I248T	probably benign	Het
Dchs2	A	G	3: 83,211,834 (GRCm39)	T1878A	probably benign	Het
Ddi2	A	G	4: 141,412,561 (GRCm39)	V117A	probably benign	Het
Dennd5a	G	T	7: 109,533,196 (GRCm39)	F191L	probably benign	Het
Dnm3	C	T	1: 161,819,619 (GRCm39)	R851H	possibly damaging	Het
Eif3l	G	A	15: 78,973,799 (GRCm39)	D405N	possibly damaging	Het
Espn	T	A	4: 152,215,738 (GRCm39)	D507V	possibly damaging	Het
Fam83f	A	T	15: 80,576,704 (GRCm39)	S452C	possibly damaging	Het
Fbxo22	A	C	9: 55,125,651 (GRCm39)	E171D	probably damaging	Het
Fgl2	T	C	5: 21,577,752 (GRCm39)	V13A	probably benign	Het
Fsip2	A	G	2: 82,807,044 (GRCm39)	H1121R	probably benign	Het
G0s2	A	T	1: 192,955,081 (GRCm39)	M1K	probably null	Het
Gnptab	G	A	10: 88,276,254 (GRCm39)		probably null	Het
Grm1	G	A	10: 10,956,096 (GRCm39)	P63S	probably benign	Het
Grsf1	G	A	5: 88,823,523 (GRCm39)		probably benign	Het
Hcfc1r1	G	A	17: 23,892,985 (GRCm39)	G10D	probably damaging	Het
Hdac1-ps	A	C	17: 78,799,447 (GRCm39)	E146A	probably damaging	Het
Igsf11	T	C	16: 38,827,565 (GRCm39)	V41A	possibly damaging	Het
Il17a	C	A	1: 20,802,351 (GRCm39)	A20E	probably benign	Het
Kcnv2	A	G	19: 27,300,332 (GRCm39)	Y61C	probably damaging	Het
Kmt2c	A	G	5: 25,499,697 (GRCm39)	M481T	possibly damaging	Het
Krt40	A	T	11: 99,430,961 (GRCm39)	C263S	possibly damaging	Het
Larp1	T	C	11: 57,938,540 (GRCm39)	V441A	possibly damaging	Het
Lrwd1	T	C	5: 136,160,983 (GRCm39)	E300G	probably damaging	Het
Mcoln3	G	T	3: 145,845,230 (GRCm39)	W475C	probably damaging	Het
Mdga1	A	G	17: 30,058,796 (GRCm39)	I30T	probably benign	Het
Mmd	T	A	11: 90,158,433 (GRCm39)	V181D	probably benign	Het
Muc4	T	A	16: 32,752,558 (GRCm38)	L812*	probably null	Het
Mycbp2	T	C	14: 103,414,729 (GRCm39)	D2561G	probably benign	Het
Myh11	T	A	16: 14,027,481 (GRCm39)	E1251V		Het
Myl12a	G	T	17: 71,303,166 (GRCm39)	N95K	probably benign	Het
Myo1h	A	G	5: 114,466,872 (GRCm39)		probably null	Het
Myrf	G	A	19: 10,196,983 (GRCm39)	P266S	possibly damaging	Het
Ncf1	A	G	5: 134,250,949 (GRCm39)	V330A	possibly damaging	Het
Nfasc	T	C	1: 132,533,287 (GRCm39)	D638G	probably damaging	Het
Nkapl	T	C	13: 21,651,437 (GRCm39)	K392R	possibly damaging	Het
Or2y3	A	G	17: 38,393,293 (GRCm39)	V192A	probably benign	Het
Or6a2	A	T	7: 106,600,514 (GRCm39)	C184*	probably null	Het
Or8b50	A	G	9: 38,517,708 (GRCm39)		probably benign	Het
Pelo	T	A	13: 115,226,184 (GRCm39)	N91I	probably damaging	Het
Ptk2b	T	C	14: 66,395,850 (GRCm39)	N836D	probably benign	Het
Pwp2	A	T	10: 78,018,778 (GRCm39)		probably null	Het
Snx13	A	G	12: 35,155,174 (GRCm39)	T413A	probably benign	Het
Spaca7	C	T	8: 12,635,696 (GRCm39)	P71S	probably damaging	Het
Spef2	A	T	15: 9,609,637 (GRCm39)	M1296K	possibly damaging	Het
Suco	G	A	1: 161,656,890 (GRCm39)	A978V	probably benign	Het
Tcerg1	A	G	18: 42,670,002 (GRCm39)	E494G	probably benign	Het
Tenm2	A	G	11: 35,997,626 (GRCm39)	V821A	probably benign	Het
Tg	T	A	15: 66,565,112 (GRCm39)	D1151E	probably benign	Het
Trp53bp2	A	G	1: 182,283,384 (GRCm39)	E1040G	probably damaging	Het
Ubap2	A	T	4: 41,233,655 (GRCm39)	N79K	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Yars2	T	G	16: 16,122,385 (GRCm39)		probably null	Het
Ylpm1	A	G	12: 85,095,640 (GRCm39)	I1847V	possibly damaging	Het

Other mutations in Slc44a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Slc44a1	APN	4	53,543,571 (GRCm39)	missense	probably damaging	1.00
IGL00420:Slc44a1	APN	4	53,553,550 (GRCm39)	missense	possibly damaging	0.86
IGL01369:Slc44a1	APN	4	53,491,448 (GRCm39)	missense	probably damaging	1.00
IGL01867:Slc44a1	APN	4	53,536,405 (GRCm39)	missense	probably damaging	1.00
IGL02188:Slc44a1	APN	4	53,541,361 (GRCm39)	missense	probably benign	0.01
IGL03095:Slc44a1	APN	4	53,536,374 (GRCm39)	nonsense	probably null
R0517:Slc44a1	UTSW	4	53,542,366 (GRCm39)	missense	probably damaging	0.99
R0815:Slc44a1	UTSW	4	53,536,421 (GRCm39)	missense	possibly damaging	0.77
R1437:Slc44a1	UTSW	4	53,561,006 (GRCm39)	missense	probably damaging	1.00
R1443:Slc44a1	UTSW	4	53,561,069 (GRCm39)	missense	probably damaging	1.00
R1673:Slc44a1	UTSW	4	53,542,468 (GRCm39)	missense	probably benign	0.04
R2037:Slc44a1	UTSW	4	53,563,243 (GRCm39)	intron	probably benign
R2131:Slc44a1	UTSW	4	53,563,246 (GRCm39)	frame shift	probably null
R3417:Slc44a1	UTSW	4	53,553,549 (GRCm39)	missense	probably benign	0.04
R3721:Slc44a1	UTSW	4	53,491,445 (GRCm39)	missense	probably damaging	1.00
R3763:Slc44a1	UTSW	4	53,563,286 (GRCm39)	missense	probably benign	0.45
R4426:Slc44a1	UTSW	4	53,563,286 (GRCm39)	missense	probably benign	0.45
R4751:Slc44a1	UTSW	4	53,560,973 (GRCm39)	missense	probably damaging	1.00
R4993:Slc44a1	UTSW	4	53,543,644 (GRCm39)	missense	probably damaging	1.00
R5853:Slc44a1	UTSW	4	53,528,682 (GRCm39)	missense	probably benign	0.00
R6293:Slc44a1	UTSW	4	53,561,099 (GRCm39)	missense	probably damaging	1.00
R6978:Slc44a1	UTSW	4	53,544,671 (GRCm39)	missense	probably damaging	1.00
R7164:Slc44a1	UTSW	4	53,528,711 (GRCm39)	missense	probably benign	0.09
R8127:Slc44a1	UTSW	4	53,528,714 (GRCm39)	missense	probably benign	0.00
R8681:Slc44a1	UTSW	4	53,481,510 (GRCm39)	missense	probably damaging	0.99
R8922:Slc44a1	UTSW	4	53,544,545 (GRCm39)	missense	probably damaging	1.00
R9524:Slc44a1	UTSW	4	53,542,389 (GRCm39)	missense	probably benign	0.00
R9596:Slc44a1	UTSW	4	53,544,553 (GRCm39)	missense	probably benign	0.12
R9726:Slc44a1	UTSW	4	53,491,410 (GRCm39)	missense	probably benign	0.25
Z1176:Slc44a1	UTSW	4	53,553,504 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTGAAGTCTGTCCTTTGC -3'
(R):5'- TCTCCTCAGTTGGTGCTCAAATAC -3'

Sequencing Primer
(F):5'- CAGTGAAGTCTGTCCTTTGCTTTGG -3'
(R):5'- CCTCAGTTGGTGCTCAAATACTAAAC -3'

Posted On

2019-12-20