Mutagenetix > Incidental Mutation

Incidental Mutation 'R8331:Slc44a4'

644398

Institutional Source

Beutler Lab

Gene Symbol

Slc44a4

Ensembl Gene

ENSMUSG00000007034

Gene Name

solute carrier family 44, member 4

Synonyms

NG22, 2210409B01Rik

MMRRC Submission

067860-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35133442-35149412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35140545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 246 (L246H)

Ref Sequence

ENSEMBL: ENSMUSP00000007249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000169230]

AlphaFold

Q91VA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000007249
AA Change: L246H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: L246H

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
transmembrane domain	250	272	N/A	INTRINSIC
Pfam:Choline_transpo	311	674	5.4e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169230
AA Change: L94H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: L94H

Domain	Start	End	E-Value	Type
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	98	120	N/A	INTRINSIC
Pfam:Choline_transpo	157	524	3.9e-129	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	C	A	12: 84,650,726 (GRCm39)	A545S	probably damaging	Het
Alox12e	A	T	11: 70,211,923 (GRCm39)	S195R	probably benign	Het
Angpt1	T	C	15: 42,539,653 (GRCm39)	R69G	probably damaging	Het
Apob	A	G	12: 8,051,882 (GRCm39)	Q1149R	probably benign	Het
As3mt	A	T	19: 46,697,445 (GRCm39)	E71V	probably damaging	Het
Atp9a	A	T	2: 168,517,217 (GRCm39)	V372E	probably benign	Het
Bmal1	C	A	7: 112,912,703 (GRCm39)	N586K	probably benign	Het
Bmp2k	T	C	5: 97,192,928 (GRCm39)	F259S	probably damaging	Het
Cacna1c	T	C	6: 118,607,290 (GRCm39)	T1364A		Het
Casp7	T	A	19: 56,429,397 (GRCm39)	I261N	probably damaging	Het
Ccdc154	A	G	17: 25,386,927 (GRCm39)	K319E	probably benign	Het
Cdc42bpg	C	A	19: 6,363,477 (GRCm39)	L446I	probably benign	Het
Cdkl3	A	T	11: 51,917,704 (GRCm39)	T334S	probably benign	Het
Cep250	T	A	2: 155,832,173 (GRCm39)	L1366Q	probably damaging	Het
Chp2	G	A	7: 121,821,133 (GRCm39)	D165N	probably damaging	Het
Ckap5	T	A	2: 91,406,545 (GRCm39)	M782K	probably damaging	Het
Col20a1	T	A	2: 180,638,559 (GRCm39)	I433N	possibly damaging	Het
Col4a2	A	T	8: 11,463,985 (GRCm39)	R320*	probably null	Het
Ctsc	A	G	7: 87,946,328 (GRCm39)	H119R	possibly damaging	Het
Cubn	T	C	2: 13,345,053 (GRCm39)	H2121R	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
D630045J12Rik	T	C	6: 38,125,409 (GRCm39)	E1535G	probably damaging	Het
Dido1	A	T	2: 180,302,242 (GRCm39)	D1887E	probably benign	Het
Dnah6	T	C	6: 73,001,983 (GRCm39)	E3903G	probably benign	Het
Eif4a3l2	T	C	6: 116,529,323 (GRCm39)	I400T	probably damaging	Het
Ep300	T	C	15: 81,485,411 (GRCm39)	S133P	unknown	Het
Ercc3	T	C	18: 32,373,871 (GRCm39)	S73P	probably damaging	Het
Fis1	T	C	5: 136,991,987 (GRCm39)		probably null	Het
Fscb	T	A	12: 64,520,242 (GRCm39)	D408V	probably benign	Het
Gm17087	A	G	17: 8,785,539 (GRCm39)	W55R	probably damaging	Het
Gm3404	A	T	5: 146,462,759 (GRCm39)	S41C	probably damaging	Het
Greb1l	T	C	18: 10,458,706 (GRCm39)	S96P	possibly damaging	Het
Irf3	C	T	7: 44,650,383 (GRCm39)	P300S	probably damaging	Het
Klk1b4	G	A	7: 43,860,999 (GRCm39)	C214Y	probably damaging	Het
Krtap5-3	T	A	7: 141,755,563 (GRCm39)	C133*	probably null	Het
Map3k12	T	A	15: 102,410,766 (GRCm39)	R448*	probably null	Het
Map4k2	C	G	19: 6,402,853 (GRCm39)	A738G	probably damaging	Het
Matn2	A	T	15: 34,428,827 (GRCm39)	K730N	probably damaging	Het
Mpp3	C	T	11: 101,902,541 (GRCm39)		probably null	Het
N4bp2	T	A	5: 65,964,943 (GRCm39)	D997E	probably damaging	Het
Nav2	C	T	7: 49,102,371 (GRCm39)	P390S	probably benign	Het
Nme8	A	G	13: 19,843,036 (GRCm39)	S380P	probably damaging	Het
Nup210	C	T	6: 91,030,648 (GRCm39)	D878N	possibly damaging	Het
Odad3	C	T	9: 21,903,007 (GRCm39)	R441H	probably damaging	Het
Or4k49	A	G	2: 111,494,727 (GRCm39)	D52G	possibly damaging	Het
Or8c18	A	G	9: 38,203,381 (GRCm39)	I47V	possibly damaging	Het
Osbpl9	C	A	4: 108,923,378 (GRCm39)	W427L	probably damaging	Het
Pcdhb12	T	C	18: 37,570,342 (GRCm39)	V496A	probably damaging	Het
Pdlim1	G	A	19: 40,218,995 (GRCm39)	T212I	possibly damaging	Het
Phc2	C	T	4: 128,605,987 (GRCm39)	Q270*	probably null	Het
Pi4kb	G	A	3: 94,903,995 (GRCm39)	R527Q	probably null	Het
Platr25	G	T	13: 62,848,717 (GRCm39)	H48Q	probably benign	Het
Polr1a	C	T	6: 71,953,163 (GRCm39)	T1577M	probably damaging	Het
Ptprf	C	T	4: 118,083,263 (GRCm39)	V915M	probably benign	Het
Ptprh	A	G	7: 4,552,480 (GRCm39)	L928S	probably damaging	Het
Qrsl1	T	C	10: 43,752,521 (GRCm39)	N434S	probably damaging	Het
Steap3	A	T	1: 120,169,218 (GRCm39)	C360S	possibly damaging	Het
Stk10	A	G	11: 32,538,928 (GRCm39)	T256A		Het
Tatdn3	A	T	1: 190,778,408 (GRCm39)	L261Q	probably damaging	Het
Thnsl1	T	A	2: 21,216,985 (GRCm39)	F246L	probably benign	Het
Thsd7a	A	G	6: 12,471,157 (GRCm39)	V487A		Het
Tmem41a	A	C	16: 21,766,116 (GRCm39)		probably null	Het
Togaram2	G	A	17: 72,036,221 (GRCm39)	V924M	probably damaging	Het
Trabd	T	C	15: 88,969,131 (GRCm39)	F185S	probably damaging	Het
Traf1	T	C	2: 34,838,370 (GRCm39)	D156G	probably damaging	Het
Ttn	T	C	2: 76,710,482 (GRCm39)	E8513G	unknown	Het
Txlna	C	A	4: 129,533,279 (GRCm39)	S83I	probably damaging	Het
Utrn	T	G	10: 12,490,363 (GRCm39)	T6P	probably benign	Het
Vmn2r26	T	A	6: 124,038,887 (GRCm39)	S821T	probably benign	Het
Wdhd1	A	T	14: 47,509,702 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,930,794 (GRCm39)	I917V	probably benign	Het
Wscd2	A	G	5: 113,688,996 (GRCm39)	M1V	probably null	Het
Xkr6	A	G	14: 64,056,392 (GRCm39)	H357R	unknown	Het
Zfhx2	G	T	14: 55,309,444 (GRCm39)	T885K	probably benign	Het
Zfp583	C	T	7: 6,320,554 (GRCm39)	E153K	probably benign	Het
Zmynd11	A	G	13: 9,745,190 (GRCm39)	M243T	probably benign	Het

Other mutations in Slc44a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Slc44a4	APN	17	35,149,216 (GRCm39)	utr 3 prime	probably benign
IGL01097:Slc44a4	APN	17	35,140,545 (GRCm39)	missense	probably damaging	0.97
IGL01296:Slc44a4	APN	17	35,140,674 (GRCm39)	missense	probably benign	0.39
IGL01606:Slc44a4	APN	17	35,147,994 (GRCm39)	missense	probably damaging	1.00
IGL01759:Slc44a4	APN	17	35,140,219 (GRCm39)	missense	probably benign	0.00
IGL02026:Slc44a4	APN	17	35,140,832 (GRCm39)	splice site	probably benign
IGL02119:Slc44a4	APN	17	35,147,637 (GRCm39)	missense	probably damaging	1.00
IGL02338:Slc44a4	APN	17	35,142,786 (GRCm39)	missense	possibly damaging	0.90
IGL02383:Slc44a4	APN	17	35,146,686 (GRCm39)	missense	probably benign	0.00
IGL02526:Slc44a4	APN	17	35,147,463 (GRCm39)	missense	probably damaging	0.99
IGL02744:Slc44a4	APN	17	35,146,776 (GRCm39)	missense	probably damaging	1.00
IGL02754:Slc44a4	APN	17	35,140,279 (GRCm39)	missense	probably damaging	0.98
ANU74:Slc44a4	UTSW	17	35,140,554 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Slc44a4	UTSW	17	35,140,251 (GRCm39)	missense	probably damaging	0.99
R0007:Slc44a4	UTSW	17	35,140,230 (GRCm39)	missense	probably damaging	0.99
R0007:Slc44a4	UTSW	17	35,140,230 (GRCm39)	missense	probably damaging	0.99
R0452:Slc44a4	UTSW	17	35,147,071 (GRCm39)	missense	possibly damaging	0.82
R0894:Slc44a4	UTSW	17	35,147,466 (GRCm39)	missense	possibly damaging	0.92
R1136:Slc44a4	UTSW	17	35,146,998 (GRCm39)	missense	probably damaging	1.00
R1224:Slc44a4	UTSW	17	35,140,844 (GRCm39)	missense	probably benign	0.18
R1779:Slc44a4	UTSW	17	35,140,901 (GRCm39)	missense	probably damaging	1.00
R2679:Slc44a4	UTSW	17	35,142,399 (GRCm39)	splice site	probably benign
R3499:Slc44a4	UTSW	17	35,140,656 (GRCm39)	missense	probably benign	0.02
R3732:Slc44a4	UTSW	17	35,140,537 (GRCm39)	synonymous	silent
R4084:Slc44a4	UTSW	17	35,136,323 (GRCm39)	missense	probably damaging	1.00
R4197:Slc44a4	UTSW	17	35,137,228 (GRCm39)	missense	probably benign	0.12
R4536:Slc44a4	UTSW	17	35,142,815 (GRCm39)	missense	probably damaging	1.00
R4547:Slc44a4	UTSW	17	35,146,731 (GRCm39)	missense	probably damaging	1.00
R5093:Slc44a4	UTSW	17	35,140,219 (GRCm39)	missense	probably benign	0.00
R6005:Slc44a4	UTSW	17	35,142,430 (GRCm39)	missense	possibly damaging	0.69
R6396:Slc44a4	UTSW	17	35,147,860 (GRCm39)	nonsense	probably null
R6660:Slc44a4	UTSW	17	35,149,201 (GRCm39)	missense	probably damaging	0.99
R6860:Slc44a4	UTSW	17	35,140,044 (GRCm39)	missense	probably damaging	1.00
R6863:Slc44a4	UTSW	17	35,142,798 (GRCm39)	missense	probably benign	0.41
R6947:Slc44a4	UTSW	17	35,147,044 (GRCm39)	missense	probably null	1.00
R7250:Slc44a4	UTSW	17	35,137,520 (GRCm39)	critical splice donor site	probably null
R7297:Slc44a4	UTSW	17	35,146,888 (GRCm39)	missense	probably damaging	0.98
R7425:Slc44a4	UTSW	17	35,140,667 (GRCm39)	missense	possibly damaging	0.94
R7696:Slc44a4	UTSW	17	35,147,676 (GRCm39)	missense	probably damaging	1.00
R7871:Slc44a4	UTSW	17	35,142,828 (GRCm39)	critical splice donor site	probably null
R8244:Slc44a4	UTSW	17	35,140,548 (GRCm39)	missense	probably damaging	1.00
R8681:Slc44a4	UTSW	17	35,147,253 (GRCm39)	missense	possibly damaging	0.91
R8929:Slc44a4	UTSW	17	35,136,508 (GRCm39)	missense	probably damaging	1.00
R8973:Slc44a4	UTSW	17	35,140,538 (GRCm39)	missense	probably damaging	1.00
R9345:Slc44a4	UTSW	17	35,140,219 (GRCm39)	missense	probably benign	0.03
R9610:Slc44a4	UTSW	17	35,147,793 (GRCm39)	missense	probably benign	0.18
R9611:Slc44a4	UTSW	17	35,147,793 (GRCm39)	missense	probably benign	0.18
R9729:Slc44a4	UTSW	17	35,140,670 (GRCm39)	missense	probably benign	0.01
R9755:Slc44a4	UTSW	17	35,136,331 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCGTGTGAGTCCATGGCTTC -3'
(R):5'- TCTGGTAGGCACTGAAGTTG -3'

Sequencing Primer
(F):5'- CCAAGTCTACATGTGAACTGATCAG -3'
(R):5'- CACTGAAGTTGGTAGTGAAGCCC -3'

Posted On

2020-09-02