Mutagenetix > Incidental Mutation

Incidental Mutation 'R1437:Slc44a1'

161279

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

039492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1437 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53440413-53622478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53561006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 574 (V574D)

Ref Sequence

ENSEMBL: ENSMUSP00000103278 (fasta)

Gene Model

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

AlphaFold

Q6X893

Predicted Effect

probably damaging
Transcript: ENSMUST00000102911
AA Change: V574D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099975
Gene: ENSMUSG00000028412
AA Change: V574D

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 damaging
Transcript: ENSMUST00000107645
AA Change: V367D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103272
Gene: ENSMUSG00000028412
AA Change: V367D

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 damaging
Transcript: ENSMUST00000107647
AA Change: V574D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103274
Gene: ENSMUSG00000028412
AA Change: V574D

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 damaging
Transcript: ENSMUST00000107651
AA Change: V574D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103278
Gene: ENSMUSG00000028412
AA Change: V574D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138377

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,871,436 (GRCm39)	V330E	possibly damaging	Het
Abcb5	A	G	12: 118,838,497 (GRCm39)	S1022P	probably damaging	Het
Abcc8	A	G	7: 45,829,237 (GRCm39)	I46T	probably damaging	Het
Add3	A	G	19: 53,222,109 (GRCm39)	R275G	probably damaging	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Arhgef4	A	G	1: 34,763,026 (GRCm39)	T761A	unknown	Het
Asap1	A	T	15: 63,991,956 (GRCm39)	L751Q	probably damaging	Het
Atg2a	C	A	19: 6,300,646 (GRCm39)	P741H	probably damaging	Het
Atxn10	T	C	15: 85,243,675 (GRCm39)	I46T	possibly damaging	Het
BC049715	C	A	6: 136,817,090 (GRCm39)	A110E	probably damaging	Het
Bltp1	C	A	3: 36,996,578 (GRCm39)	H1097N	possibly damaging	Het
Btbd7	T	A	12: 102,754,349 (GRCm39)	T806S	possibly damaging	Het
Cdk4	C	A	10: 126,900,558 (GRCm39)	P108H	probably damaging	Het
Cep290	A	G	10: 100,407,963 (GRCm39)	T2391A	probably benign	Het
Col6a3	G	T	1: 90,729,098 (GRCm39)	A1281E	probably damaging	Het
Cpa5	A	T	6: 30,624,654 (GRCm39)	I165F	probably damaging	Het
Ctdp1	G	T	18: 80,493,428 (GRCm39)	Q356K	probably benign	Het
Ddx21	A	G	10: 62,434,369 (GRCm39)	M130T	unknown	Het
Epha5	T	G	5: 84,381,555 (GRCm39)	D432A	probably damaging	Het
Esr1	ACGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACGCCGCCGCCGCCGCCGCCGCCGCC	10: 4,662,571 (GRCm39)		probably benign	Het
Fads2	A	T	19: 10,069,193 (GRCm39)	L77Q	probably benign	Het
Fbn2	A	T	18: 58,186,731 (GRCm39)	H1723Q	possibly damaging	Het
Fbxo42	C	T	4: 140,895,165 (GRCm39)	H43Y	probably benign	Het
Fry	A	G	5: 150,233,890 (GRCm39)	T121A	possibly damaging	Het
Gpr156	T	G	16: 37,808,904 (GRCm39)	S209A	probably damaging	Het
Hey2	T	C	10: 30,709,845 (GRCm39)	T303A	probably benign	Het
Hivep1	T	A	13: 42,310,616 (GRCm39)	M952K	probably benign	Het
Hydin	C	T	8: 111,308,617 (GRCm39)	Q3968*	probably null	Het
Jup	T	C	11: 100,274,402 (GRCm39)	E96G	probably benign	Het
Kcnn1	A	G	8: 71,297,195 (GRCm39)	I504T	probably benign	Het
Klk1b9	T	C	7: 43,629,114 (GRCm39)	V174A	probably damaging	Het
Lama3	G	C	18: 12,682,284 (GRCm39)	M1083I	possibly damaging	Het
Lcmt2	A	G	2: 120,969,377 (GRCm39)	S569P	probably benign	Het
Lrfn2	T	C	17: 49,378,253 (GRCm39)	S445P	probably damaging	Het
Lrp3	C	A	7: 34,912,595 (GRCm39)	G31W	probably damaging	Het
Lrrc8b	T	C	5: 105,629,568 (GRCm39)	L638P	probably damaging	Het
Mief2	C	T	11: 60,621,769 (GRCm39)	T113M	probably benign	Het
Mrps2	T	C	2: 28,358,899 (GRCm39)	F76S	probably damaging	Het
Naca	A	G	10: 127,878,048 (GRCm39)		probably benign	Het
Ndst4	C	A	3: 125,355,099 (GRCm39)	R336S	probably damaging	Het
Nr1i3	CACTCAACACTAC	CAC	1: 171,044,710 (GRCm39)		probably null	Het
Nr5a1	T	A	2: 38,600,685 (GRCm39)	T29S	probably benign	Het
Or5ak23	T	C	2: 85,245,218 (GRCm39)	I2V	probably benign	Het
Or5as1	C	T	2: 86,980,115 (GRCm39)	V297M	possibly damaging	Het
Pald1	A	G	10: 61,177,064 (GRCm39)	F662S	possibly damaging	Het
Pdcd4	G	T	19: 53,897,674 (GRCm39)	A59S	probably damaging	Het
Pde4a	T	C	9: 21,103,888 (GRCm39)		probably null	Het
Pkd1	T	A	17: 24,814,106 (GRCm39)	S4159T	probably damaging	Het
Plaat1	C	A	16: 29,046,922 (GRCm39)	A147E	possibly damaging	Het
Plch1	C	A	3: 63,604,954 (GRCm39)	R1641L	probably benign	Het
Plec	G	T	15: 76,073,481 (GRCm39)	P308Q	probably damaging	Het
Pnkp	A	G	7: 44,509,826 (GRCm39)	S262G	possibly damaging	Het
Pou2f1	A	G	1: 165,719,399 (GRCm39)	V504A	probably damaging	Het
Prepl	G	A	17: 85,395,785 (GRCm39)	R66W	probably damaging	Het
Rasgrf2	T	C	13: 92,167,396 (GRCm39)	K226E	probably damaging	Het
Ror1	T	A	4: 100,269,306 (GRCm39)	F381L	probably benign	Het
Sbsn	C	T	7: 30,452,478 (GRCm39)	Q498*	probably null	Het
Scgb2b19	T	C	7: 32,977,980 (GRCm39)	I106V	probably benign	Het
Sf3a2	G	A	10: 80,640,040 (GRCm39)		probably benign	Het
Sis	T	C	3: 72,841,475 (GRCm39)	H780R	probably damaging	Het
Slc28a3	G	T	13: 58,706,389 (GRCm39)	C617*	probably null	Het
Slc8a3	T	A	12: 81,362,760 (GRCm39)	T20S	probably damaging	Het
Stt3b	T	A	9: 115,083,995 (GRCm39)	I394F	probably damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ugt2b35	T	C	5: 87,148,890 (GRCm39)	V47A	probably benign	Het
Vmn2r114	A	G	17: 23,510,185 (GRCm39)	F765S	probably damaging	Het
Vps50	C	T	6: 3,517,852 (GRCm39)	Q97*	probably null	Het
Vsig10	A	G	5: 117,489,635 (GRCm39)	Q467R	probably damaging	Het
Wdsub1	T	G	2: 59,708,477 (GRCm39)	Y11S	probably damaging	Het
Zbtb11	T	G	16: 55,811,983 (GRCm39)		probably null	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
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'- GTACGCCTTAGTTTGAGATGGACTAGC -3'
(R):5'- GGAAACACTGTGGCCGACATTTG -3'

Sequencing Primer
(F):5'- GAGATGGACTAGCCTTCTGTAAC -3'
(R):5'- TATAGAATTCTCGGCCAGGGCT -3'

Posted On

2014-03-14