Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:Slc44a4'

39726

Institutional Source

Beutler Lab

Gene Symbol

Slc44a4

Ensembl Gene

ENSMUSG00000007034

Gene Name

solute carrier family 44, member 4

Synonyms

NG22, 2210409B01Rik

MMRRC Submission

038652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0452 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35133442-35149412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35147071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 367 (I367T)

Ref Sequence

ENSEMBL: ENSMUSP00000132965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000007253] [ENSMUST00000169230]

AlphaFold

Q91VA1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007249
AA Change: I519T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: I519T

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 benign
Transcript: ENSMUST00000007253

SMART Domains

Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
Pfam:BNR_3	74	249	1e-16	PFAM
Pfam:BNR_2	82	377	1.8e-52	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169230
AA Change: I367T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: I367T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174715

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 107,233,822 (GRCm39)		probably benign	Het
Acap3	C	A	4: 155,986,785 (GRCm39)	S347*	probably null	Het
Acvr1	G	A	2: 58,390,507 (GRCm39)	P19L	probably benign	Het
Add2	G	T	6: 86,081,611 (GRCm39)	E366*	probably null	Het
Ankrd28	C	A	14: 31,470,695 (GRCm39)	A153S	probably damaging	Het
Anxa8	A	T	14: 33,816,727 (GRCm39)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,771,403 (GRCm39)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,416,416 (GRCm39)	A1120T	unknown	Het
Atad5	T	C	11: 79,997,247 (GRCm39)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,868,058 (GRCm39)		probably null	Het
Atxn1l	C	T	8: 110,459,027 (GRCm39)	V412I	possibly damaging	Het
Card11	A	G	5: 140,866,125 (GRCm39)	S923P	probably benign	Het
Cars1	C	A	7: 143,146,362 (GRCm39)	E21*	probably null	Het
Ccdc115	A	G	1: 34,476,702 (GRCm39)		probably benign	Het
Ccnj	T	A	19: 40,833,508 (GRCm39)		probably null	Het
Cds2	C	T	2: 132,140,399 (GRCm39)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,549,248 (GRCm39)	H213R	probably benign	Het
Cfap44	A	T	16: 44,252,308 (GRCm39)	M806L	probably benign	Het
Chd8	A	T	14: 52,452,044 (GRCm39)	I1317K	probably damaging	Het
Cherp	A	T	8: 73,215,366 (GRCm39)		probably benign	Het
Creb5	C	G	6: 53,581,527 (GRCm39)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,215,333 (GRCm39)	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,466,187 (GRCm39)	D330A	probably benign	Het
Ddost	G	A	4: 138,037,499 (GRCm39)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,644,978 (GRCm39)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,833,057 (GRCm39)	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,704,668 (GRCm39)	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,868,193 (GRCm39)	T35M	probably damaging	Het
Emc7	T	C	2: 112,297,314 (GRCm39)		probably benign	Het
Erp27	T	C	6: 136,886,487 (GRCm39)	Y182C	probably damaging	Het
Exoc2	T	A	13: 31,070,310 (GRCm39)		probably benign	Het
F5	A	C	1: 164,012,676 (GRCm39)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,808,686 (GRCm39)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,455,164 (GRCm39)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,467,124 (GRCm39)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,758,793 (GRCm39)	D443V	possibly damaging	Het
Il17rd	T	A	14: 26,813,888 (GRCm39)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,356,779 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,261 (GRCm39)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,443,675 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,503 (GRCm39)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,363,553 (GRCm39)		probably benign	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,705,036 (GRCm39)	V113A	probably benign	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Nisch	T	A	14: 30,899,421 (GRCm39)		probably benign	Het
Nlrp4d	G	A	7: 10,112,219 (GRCm39)	T650I	probably benign	Het
Or4f61	T	A	2: 111,922,981 (GRCm39)	K22*	probably null	Het
Or5p78	C	T	7: 108,211,577 (GRCm39)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,886,300 (GRCm39)	D1793G	unknown	Het
Pcm1	A	G	8: 41,778,942 (GRCm39)	D1850G	probably benign	Het
Pgap2	G	A	7: 101,885,669 (GRCm39)	A145T	probably damaging	Het
Phc1	G	A	6: 122,299,995 (GRCm39)	A583V	probably damaging	Het
Plcd3	G	A	11: 102,962,085 (GRCm39)		probably benign	Het
Ppm1m	T	A	9: 106,074,501 (GRCm39)	Q214L	probably damaging	Het
Prkg2	A	G	5: 99,145,379 (GRCm39)		probably benign	Het
Prss3l	A	G	6: 41,422,271 (GRCm39)	Y45H	probably benign	Het
Rasal3	T	C	17: 32,614,791 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,421,640 (GRCm39)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,452,587 (GRCm39)	L522H	probably damaging	Het
Setd2	T	A	9: 110,382,168 (GRCm39)		probably null	Het
Sik1	C	A	17: 32,068,055 (GRCm39)	V377F	possibly damaging	Het
Slfn3	A	G	11: 83,103,954 (GRCm39)	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,051,806 (GRCm39)	N313I	possibly damaging	Het
Smc4	A	T	3: 68,915,361 (GRCm39)	K138*	probably null	Het
Smg6	T	A	11: 74,821,039 (GRCm39)	S437T	probably benign	Het
Spaca9	G	T	2: 28,586,005 (GRCm39)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,152,493 (GRCm39)	I41S	probably damaging	Het
Spink5	A	T	18: 44,096,385 (GRCm39)	T5S	possibly damaging	Het
St3gal1	C	A	15: 66,981,504 (GRCm39)		probably benign	Het
Stat5a	C	A	11: 100,753,961 (GRCm39)	T97K	probably benign	Het
Stat5b	A	T	11: 100,689,156 (GRCm39)	I246N	probably benign	Het
Supt6	G	T	11: 78,117,829 (GRCm39)	D462E	probably damaging	Het
Swi5	A	T	2: 32,171,836 (GRCm39)		probably benign	Het
Syne1	A	T	10: 5,355,435 (GRCm39)	V375E	probably damaging	Het
Tcp1	T	C	17: 13,143,239 (GRCm39)	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,288,289 (GRCm39)	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,380 (GRCm39)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,336,281 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,768,220 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,701,454 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,666,347 (GRCm39)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,672,479 (GRCm39)		probably benign	Het
Ufc1	C	T	1: 171,117,527 (GRCm39)		probably benign	Het
Uhmk1	A	G	1: 170,039,971 (GRCm39)	M132T	possibly damaging	Het
Usp29	A	G	7: 6,966,181 (GRCm39)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,903,469 (GRCm39)	V103A	possibly damaging	Het
Wdr59	G	T	8: 112,248,604 (GRCm39)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,284,372 (GRCm39)	E914D	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
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
R8331:Slc44a4	UTSW	17	35,140,545 (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'- ACCTGCAAATCTACGGAGTCCTGG -3'
(R):5'- GCAACACTTGAAGCAGCAGATGATG -3'

Sequencing Primer
(F):5'- ACTGGGCCTTTCACAAGC -3'
(R):5'- CAGATGATGCAGCGGGC -3'

Posted On

2013-05-23