Mutagenetix > Incidental Mutation

Incidental Mutation 'R9524:Slc44a1'

719070

Institutional Source

Beutler Lab

Gene Symbol

Slc44a1

Ensembl Gene

ENSMUSG00000028412

Gene Name

solute carrier family 44, member 1

Synonyms

2210409B22Rik, CHTL1, Cdw92, 4833416H08Rik, CTL1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9524 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53440413-53622478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53542389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 308 (V308I)

Ref Sequence

ENSEMBL: ENSMUSP00000099975 (fasta)

Gene Model

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

AlphaFold

Q6X893

Predicted Effect

probably benign
Transcript: ENSMUST00000102911
AA Change: V308I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099975
Gene: ENSMUSG00000028412
AA Change: V308I

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: V101I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103272
Gene: ENSMUSG00000028412
AA Change: V101I

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: V308I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103273
Gene: ENSMUSG00000028412
AA Change: V308I

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: V308I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103274
Gene: ENSMUSG00000028412
AA Change: V308I

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: V308I

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

SMART Domains

Protein: ENSMUSP00000103278
Gene: ENSMUSG00000028412
AA Change: V308I

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,180,594 (GRCm39)		probably null	Het
Adra2c	G	A	5: 35,438,143 (GRCm39)	R305Q	probably benign	Het
Ahnak	A	G	19: 9,014,617 (GRCm39)	D147G		Het
Arhgap30	T	A	1: 171,225,114 (GRCm39)	S57T	probably damaging	Het
Aspm	T	C	1: 139,408,607 (GRCm39)	I2498T	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Cc2d1a	G	T	8: 84,870,744 (GRCm39)	D101E	probably benign	Het
Cntfr	A	G	4: 41,661,995 (GRCm39)	L249P	probably damaging	Het
D130043K22Rik	T	C	13: 25,071,876 (GRCm39)	I940T	possibly damaging	Het
Dnah12	T	G	14: 26,572,494 (GRCm39)	C2862G	probably null	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dnah9	A	G	11: 65,976,309 (GRCm39)	F1247L	possibly damaging	Het
Dpp10	T	C	1: 123,264,611 (GRCm39)	Q737R	probably damaging	Het
Dpp3	A	G	19: 4,959,897 (GRCm39)	V673A	possibly damaging	Het
Eif2a	A	T	3: 58,448,467 (GRCm39)	K100I	possibly damaging	Het
Flnc	C	A	6: 29,461,109 (GRCm39)	N2694K	probably damaging	Het
Fv1	T	A	4: 147,953,768 (GRCm39)	D111E	possibly damaging	Het
Gcnt3	G	A	9: 69,941,569 (GRCm39)	A333V	probably damaging	Het
Gpr151	T	C	18: 42,712,710 (GRCm39)		probably benign	Het
Gxylt2	A	G	6: 100,727,416 (GRCm39)	T177A	probably benign	Het
Hnmt	G	A	2: 23,893,880 (GRCm39)	L205F	possibly damaging	Het
Ikbkb	A	T	8: 23,172,740 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,578,337 (GRCm39)	S391G	probably benign	Het
Kif26a	C	T	12: 112,140,286 (GRCm39)	T505M	probably damaging	Het
Kif3b	A	T	2: 153,159,460 (GRCm39)	K420N	probably benign	Het
Kmt2a	A	G	9: 44,730,294 (GRCm39)	V3341A	unknown	Het
Lce1i	T	C	3: 92,685,081 (GRCm39)	K32E	unknown	Het
Lmf1	A	G	17: 25,881,514 (GRCm39)	Y521C	probably damaging	Het
Mki67	C	T	7: 135,305,913 (GRCm39)	C655Y	probably damaging	Het
Morc3	T	A	16: 93,667,401 (GRCm39)	V593E	probably benign	Het
Muc16	A	G	9: 18,497,314 (GRCm39)	F6613L	probably benign	Het
Naip1	G	A	13: 100,563,101 (GRCm39)	T688I	probably benign	Het
Or2n1d	T	A	17: 38,646,540 (GRCm39)	L164*	probably null	Het
Otop2	T	A	11: 115,214,503 (GRCm39)	C87S	probably benign	Het
Picalm	T	A	7: 89,810,484 (GRCm39)	L97*	probably null	Het
Pik3c2g	T	A	6: 139,606,768 (GRCm39)	W272R	probably damaging	Het
Plekhg4	G	A	8: 106,101,398 (GRCm39)	G20R	unknown	Het
Ppp1r35	G	A	5: 137,777,304 (GRCm39)	A17T	unknown	Het
Ppp2r5e	A	T	12: 75,509,167 (GRCm39)	Y371N	possibly damaging	Het
Rexo1	T	C	10: 80,386,872 (GRCm39)	E62G	probably damaging	Het
Rtl1	T	C	12: 109,556,973 (GRCm39)	E1622G	probably damaging	Het
Ryr1	T	C	7: 28,723,600 (GRCm39)	E4181G	probably damaging	Het
Saxo1	C	A	4: 86,397,132 (GRCm39)	M135I	probably benign	Het
Shank2	C	A	7: 143,964,183 (GRCm39)	P597Q	possibly damaging	Het
Shld2	G	A	14: 33,971,245 (GRCm39)	Q547*	probably null	Het
Slc6a21	A	G	7: 44,937,785 (GRCm39)	H367R	probably benign	Het
Snx11	G	T	11: 96,660,023 (GRCm39)	T222K	probably benign	Het
Snx4	C	T	16: 33,112,228 (GRCm39)	Q388*	probably null	Het
Sulf1	T	C	1: 12,918,622 (GRCm39)	L831P	probably damaging	Het
Ugt2a3	A	T	5: 87,485,018 (GRCm39)	V2D		Het
Unc5c	T	C	3: 141,494,683 (GRCm39)	V406A	possibly damaging	Het
Unc5d	A	C	8: 29,365,639 (GRCm39)	N115K	probably damaging	Het
Usp28	C	A	9: 48,947,026 (GRCm39)	T819N	probably damaging	Het
Usp42	T	C	5: 143,702,704 (GRCm39)	D639G	possibly damaging	Het
Vmn2r102	T	A	17: 19,897,564 (GRCm39)	M193K	possibly damaging	Het
Vmn2r12	A	G	5: 109,239,823 (GRCm39)	Y247H	probably damaging	Het
Vps13d	T	C	4: 144,822,814 (GRCm39)	D2989G		Het
Vsig2	A	G	9: 37,455,335 (GRCm39)	E295G	probably benign	Het
Wdfy3	T	A	5: 102,055,333 (GRCm39)	N1579I	probably benign	Het
Zfp521	T	C	18: 13,980,173 (GRCm39)	D80G	possibly damaging	Het
Zfp663	A	C	2: 165,195,607 (GRCm39)	L204R	probably 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
R7838:Slc44a1	UTSW	4	53,517,657 (GRCm39)	missense	probably benign	0.01
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
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'- AGCTCTCCCAACATTGCTCAG -3'
(R):5'- TGCATTTCTTACCAGTAGTGCC -3'

Sequencing Primer
(F):5'- CATTGCTCAGACTGATAGGCATGC -3'
(R):5'- TTCTTACCAGTAGTGCCAAGGAAG -3'

Posted On

2022-07-18