Mutagenetix > Incidental Mutation

Incidental Mutation 'R0815:Slc44a1'

78562

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

038995-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53440413-53622478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53536421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 199 (V199G)

Ref Sequence

ENSEMBL: ENSMUSP00000103274 (fasta)

Gene Model

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

AlphaFold

Q6X893

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102911
AA Change: V199G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099975
Gene: ENSMUSG00000028412
AA Change: V199G

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

SMART Domains

Protein: ENSMUSP00000103272
Gene: ENSMUSG00000028412

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: V199G

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103273
Gene: ENSMUSG00000028412
AA Change: V199G

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

possibly damaging
Transcript: ENSMUST00000107647
AA Change: V199G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103274
Gene: ENSMUSG00000028412
AA Change: V199G

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

possibly damaging
Transcript: ENSMUST00000107651
AA Change: V199G

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103278
Gene: ENSMUSG00000028412
AA Change: V199G

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

Meta Mutation Damage Score

0.1884

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.5%
20x: 91.3%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,865,184 (GRCm39)		probably benign	Het
Abcf2	A	T	5: 24,772,268 (GRCm39)	Y487N	probably damaging	Het
Adcy4	T	C	14: 56,021,056 (GRCm39)	Y27C	probably damaging	Het
Atp2a2	T	C	5: 122,609,299 (GRCm39)	I188V	probably benign	Het
Cacna1s	A	T	1: 136,040,695 (GRCm39)	I1231F	possibly damaging	Het
Capn7	T	A	14: 31,091,714 (GRCm39)	C704S	possibly damaging	Het
Celsr2	G	T	3: 108,308,617 (GRCm39)	T1770K	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cul9	T	C	17: 46,848,748 (GRCm39)		probably null	Het
Dpp10	A	G	1: 123,360,658 (GRCm39)		probably null	Het
Dscaml1	A	G	9: 45,656,372 (GRCm39)	I1571V	probably benign	Het
Eif3j2	T	A	18: 43,610,036 (GRCm39)	Y259F	probably benign	Het
Erc2	A	C	14: 27,747,105 (GRCm39)	N345T	probably benign	Het
Fbxo21	T	C	5: 118,133,573 (GRCm39)		probably benign	Het
Frmd8	A	T	19: 5,915,084 (GRCm39)		probably benign	Het
Gfm1	T	C	3: 67,381,928 (GRCm39)	S705P	probably damaging	Het
Gucy1b2	T	C	14: 62,656,511 (GRCm39)	D282G	probably benign	Het
H2-Ab1	T	C	17: 34,486,328 (GRCm39)	I129T	probably damaging	Het
H2-M10.3	T	A	17: 36,677,582 (GRCm39)	Y232F	probably damaging	Het
Lipm	A	T	19: 34,096,161 (GRCm39)	T326S	probably benign	Het
Lrrc8c	T	C	5: 105,756,400 (GRCm39)	L725P	probably damaging	Het
Map3k19	A	G	1: 127,762,375 (GRCm39)		probably benign	Het
Med31	T	A	11: 72,104,657 (GRCm39)	N50I	probably damaging	Het
Myo15b	T	G	11: 115,757,162 (GRCm39)		probably benign	Het
Nemp1	T	C	10: 127,528,893 (GRCm39)	L199S	probably damaging	Het
Nod2	G	A	8: 89,399,290 (GRCm39)		probably benign	Het
Oga	C	T	19: 45,771,425 (GRCm39)	A49T	probably benign	Het
Or2ak6	A	G	11: 58,593,435 (GRCm39)	R303G	possibly damaging	Het
Or5b21	A	G	19: 12,840,008 (GRCm39)	I290V	probably benign	Het
Parva	G	A	7: 112,167,071 (GRCm39)	V215M	probably damaging	Het
Phf1	T	C	17: 27,156,114 (GRCm39)		probably benign	Het
Plscr1l1	A	T	9: 92,233,140 (GRCm39)	I88L	possibly damaging	Het
Ppp1r12c	G	T	7: 4,489,365 (GRCm39)	Q240K	probably damaging	Het
Ralgapa1	A	T	12: 55,809,466 (GRCm39)	Y436*	probably null	Het
Ralgapa1	C	A	12: 55,829,562 (GRCm39)		probably benign	Het
Rbm11	C	T	16: 75,393,525 (GRCm39)	R74C	probably damaging	Het
Robo3	A	G	9: 37,333,479 (GRCm39)	V744A	probably damaging	Het
Rsbn1	T	G	3: 103,861,469 (GRCm39)	S522A	probably damaging	Het
Scel	T	A	14: 103,823,916 (GRCm39)	S381R	possibly damaging	Het
Sec31b	G	A	19: 44,506,612 (GRCm39)	Q909*	probably null	Het
Slc38a11	T	A	2: 65,184,124 (GRCm39)	I176L	possibly damaging	Het
Slc39a4	C	T	15: 76,496,839 (GRCm39)	D574N	probably damaging	Het
Sltm	A	G	9: 70,469,190 (GRCm39)	T150A	probably benign	Het
Son	C	A	16: 91,452,372 (GRCm39)	A373D	probably damaging	Het
Sp140	C	T	1: 85,547,772 (GRCm39)		probably benign	Het
Speg	A	G	1: 75,392,036 (GRCm39)	Y1606C	probably damaging	Het
Srgap1	A	T	10: 121,621,379 (GRCm39)	V1061D	probably damaging	Het
Stat5a	A	G	11: 100,765,908 (GRCm39)		probably null	Het
Supt4a	T	A	11: 87,628,409 (GRCm39)		probably benign	Het
Teddm1b	A	G	1: 153,750,638 (GRCm39)	K149R	possibly damaging	Het
Thnsl2	A	T	6: 71,111,208 (GRCm39)	L220*	probably null	Het
Tinf2	G	A	14: 55,917,566 (GRCm39)	P308S	probably benign	Het
Tmem131l	A	G	3: 83,847,879 (GRCm39)	S329P	probably benign	Het
Tnf	T	C	17: 35,420,120 (GRCm39)		probably benign	Het
Upp2	A	G	2: 58,661,568 (GRCm39)	T144A	probably benign	Het
Vmn2r94	T	G	17: 18,477,973 (GRCm39)	Q146P	probably damaging	Het
Zfhx4	T	A	3: 5,310,375 (GRCm39)	S919R	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
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
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'- TCATAGCGCACAGCACTTAGCTC -3'
(R):5'- CCATGACTTAGTAACCAGTGGGGAAAC -3'

Sequencing Primer
(F):5'- TCCCATAATGAATGCGCGG -3'
(R):5'- GCCTTCTGCAGTACTATGCAAC -3'

Posted On

2013-10-16