Mutagenetix > Incidental Mutation

Incidental Mutation 'R7250:Slc44a4'

563884

Institutional Source

Beutler Lab

Gene Symbol

Slc44a4

Ensembl Gene

ENSMUSG00000007034

Gene Name

solute carrier family 44, member 4

Synonyms

NG22, 2210409B01Rik

MMRRC Submission

045350-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7250 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35133442-35149412 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 35137520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000007249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000013931] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000137071] [ENSMUST00000169230]

AlphaFold

Q91VA1

Predicted Effect

probably null
Transcript: ENSMUST00000007249

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034

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: ENSMUST00000013931

SMART Domains

Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
low complexity region	2	47	N/A	INTRINSIC
coiled coil region	336	385	N/A	INTRINSIC
low complexity region	407	424	N/A	INTRINSIC
low complexity region	604	627	N/A	INTRINSIC
ANK	737	766	2.52e-6	SMART
ANK	770	799	1.19e-2	SMART
ANK	803	833	4.71e-6	SMART
ANK	837	866	2.9e-6	SMART
ANK	870	899	1e0	SMART
ANK	903	932	1.53e-5	SMART
PreSET	976	1075	2.44e-40	SMART
SET	1091	1214	4.08e-46	SMART
PostSET	1217	1233	2.84e-1	SMART
low complexity region	1245	1260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078061

SMART Domains

Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
coiled coil region	279	328	N/A	INTRINSIC
low complexity region	350	367	N/A	INTRINSIC
low complexity region	513	536	N/A	INTRINSIC
ANK	646	675	2.52e-6	SMART
ANK	679	708	1.19e-2	SMART
ANK	712	742	4.71e-6	SMART
ANK	746	775	2.9e-6	SMART
ANK	779	808	1e0	SMART
ANK	812	841	1.53e-5	SMART
PreSET	885	984	2.44e-40	SMART
SET	1000	1123	4.08e-46	SMART
PostSET	1126	1142	2.84e-1	SMART
low complexity region	1154	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097342

SMART Domains

Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
low complexity region	2	47	N/A	INTRINSIC
coiled coil region	336	385	N/A	INTRINSIC
low complexity region	407	424	N/A	INTRINSIC
low complexity region	570	593	N/A	INTRINSIC
ANK	703	732	2.52e-6	SMART
ANK	736	765	1.19e-2	SMART
ANK	769	799	4.71e-6	SMART
ANK	803	832	2.9e-6	SMART
ANK	836	865	1e0	SMART
ANK	869	898	1.53e-5	SMART
PreSET	942	1041	2.44e-40	SMART
SET	1057	1180	4.08e-46	SMART
PostSET	1183	1199	2.84e-1	SMART
low complexity region	1211	1226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114033

SMART Domains

Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
coiled coil region	279	328	N/A	INTRINSIC
low complexity region	350	367	N/A	INTRINSIC
low complexity region	547	570	N/A	INTRINSIC
ANK	680	709	2.52e-6	SMART
ANK	713	742	1.19e-2	SMART
ANK	746	776	4.71e-6	SMART
ANK	780	809	2.9e-6	SMART
ANK	813	842	1e0	SMART
ANK	846	875	1.53e-5	SMART
PreSET	919	1018	2.44e-40	SMART
SET	1034	1157	4.08e-46	SMART
PostSET	1160	1176	2.84e-1	SMART
low complexity region	1188	1203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137071

SMART Domains

Protein: ENSMUSP00000134749
Gene: ENSMUSG00000013787

Domain	Start	End	E-Value	Type
ANK	23	52	1.19e-2	SMART
ANK	56	86	4.71e-6	SMART
ANK	90	119	2.9e-6	SMART
low complexity region	143	154	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000169230

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034

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: 99.7%
20x: 99.0%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Actl7b	T	A	4: 56,741,035 (GRCm39)	M108L	probably benign	Het
Adgrf3	T	A	5: 30,400,680 (GRCm39)	I934L	probably damaging	Het
Adprm	A	G	11: 66,932,450 (GRCm39)	V153A	probably benign	Het
Aif1l	G	A	2: 31,859,764 (GRCm39)	V109M	probably damaging	Het
Asphd1	T	A	7: 126,545,942 (GRCm39)	E307V	probably damaging	Het
Ate1	T	A	7: 130,121,701 (GRCm39)		probably benign	Het
Borcs7	A	G	19: 46,688,047 (GRCm39)	H64R	probably damaging	Het
C1qtnf1	A	G	11: 118,339,176 (GRCm39)	*282W	probably null	Het
Cacna1c	A	G	6: 118,574,966 (GRCm39)	C1985R		Het
Cacna1c	A	T	6: 118,673,412 (GRCm39)	V647E		Het
Cacna1d	A	G	14: 29,797,108 (GRCm39)	S1497P	probably damaging	Het
Cacna1e	T	A	1: 154,576,235 (GRCm39)	I133F	possibly damaging	Het
Ccdc63	A	T	5: 122,260,906 (GRCm39)	L206H	probably damaging	Het
Cenatac	A	G	9: 44,323,748 (GRCm39)		probably null	Het
Cspg4b	T	G	13: 113,455,349 (GRCm39)	I465R		Het
D430041D05Rik	T	C	2: 104,086,961 (GRCm39)	T672A	possibly damaging	Het
D630045J12Rik	G	T	6: 38,119,546 (GRCm39)	T1732K	possibly damaging	Het
D930020B18Rik	T	C	10: 121,507,736 (GRCm39)	I158T	probably damaging	Het
Ddx52	G	A	11: 83,835,392 (GRCm39)	G106D	probably benign	Het
Dock2	A	G	11: 34,586,032 (GRCm39)	V550A	probably benign	Het
Dock2	C	T	11: 34,586,120 (GRCm39)	D521N	probably damaging	Het
F13b	T	C	1: 139,444,227 (GRCm39)		probably null	Het
Fchsd2	A	G	7: 100,908,892 (GRCm39)	K431R	possibly damaging	Het
Fez1	C	T	9: 36,779,090 (GRCm39)	R256C	probably damaging	Het
Gjd4	T	A	18: 9,280,391 (GRCm39)	Q229L	probably benign	Het
Gpr45	T	A	1: 43,071,531 (GRCm39)	I58N	probably damaging	Het
Gstm1	T	A	3: 107,923,709 (GRCm39)	I99F	probably damaging	Het
Gtpbp8	T	A	16: 44,564,225 (GRCm39)	T149S	probably damaging	Het
H2-Ab1	A	G	17: 34,486,481 (GRCm39)	D180G	probably damaging	Het
Hdhd5	A	G	6: 120,494,016 (GRCm39)	I188T	possibly damaging	Het
Hfm1	T	C	5: 107,052,197 (GRCm39)	I300V	probably benign	Het
Hnrnpr	T	G	4: 136,059,746 (GRCm39)	D283E	probably benign	Het
Hsp90b1	T	C	10: 86,527,572 (GRCm39)	E768G	unknown	Het
Kcna4	C	A	2: 107,126,663 (GRCm39)	Q466K	possibly damaging	Het
Kcnk6	A	G	7: 28,931,619 (GRCm39)	L97P	probably benign	Het
Kics2	T	C	10: 121,581,376 (GRCm39)	S126P	possibly damaging	Het
Klf5	A	G	14: 99,536,455 (GRCm39)	S9G	probably benign	Het
Kmt2c	C	A	5: 25,504,489 (GRCm39)	K3606N	probably damaging	Het
Kmt2c	T	C	5: 25,514,805 (GRCm39)	T3013A	probably benign	Het
Lancl1	A	G	1: 67,048,458 (GRCm39)	Y207H	possibly damaging	Het
Lipe	G	C	7: 25,088,085 (GRCm39)		probably benign	Het
Lrrc66	T	A	5: 73,768,224 (GRCm39)	H239L	probably benign	Het
Ltbp2	C	T	12: 84,834,166 (GRCm39)	W1441*	probably null	Het
Man2a1	T	C	17: 64,943,583 (GRCm39)	S213P	probably benign	Het
Mapre2	C	T	18: 23,991,119 (GRCm39)	A171V	possibly damaging	Het
Mdn1	T	A	4: 32,695,427 (GRCm39)	D1155E	probably damaging	Het
Mki67	T	C	7: 135,301,053 (GRCm39)	D1327G	possibly damaging	Het
Mx2	T	C	16: 97,348,664 (GRCm39)	I279T	probably damaging	Het
Myo5c	A	G	9: 75,169,497 (GRCm39)	T441A	probably damaging	Het
Nlrp9a	T	G	7: 26,258,143 (GRCm39)	V587G	possibly damaging	Het
Npas2	A	T	1: 39,377,188 (GRCm39)	T517S	probably damaging	Het
Npy1r	T	C	8: 67,157,712 (GRCm39)	S341P	probably benign	Het
Ntm	A	G	9: 29,322,988 (GRCm39)	W11R	probably benign	Het
Nxpe2	A	T	9: 48,238,096 (GRCm39)	I53N	possibly damaging	Het
Onecut2	T	C	18: 64,519,511 (GRCm39)	F443L	probably benign	Het
Or10g6	T	A	9: 39,934,050 (GRCm39)	Y120*	probably null	Het
Or2r2	A	G	6: 42,463,689 (GRCm39)	V146A	probably benign	Het
Or52ac1	A	T	7: 104,245,738 (GRCm39)	Y217N	probably damaging	Het
Parp2	T	A	14: 51,054,801 (GRCm39)	V248E	probably benign	Het
Pcdh12	C	A	18: 38,415,029 (GRCm39)	V699L	probably benign	Het
Pja2	G	A	17: 64,616,451 (GRCm39)	P148L	probably benign	Het
Poglut3	C	T	9: 53,301,821 (GRCm39)	Q158*	probably null	Het
Ppip5k2	T	G	1: 97,673,187 (GRCm39)	D415A	probably benign	Het
Prss47	A	G	13: 65,200,355 (GRCm39)	S74P	probably benign	Het
Ptprg	G	T	14: 12,166,767 (GRCm38)	M723I	probably benign	Het
Qsox2	A	T	2: 26,118,444 (GRCm39)	I109N	probably damaging	Het
Ranbp3l	A	G	15: 9,041,853 (GRCm39)	E217G	probably benign	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rgs12	T	A	5: 35,122,841 (GRCm39)	F208Y	probably damaging	Het
Rin3	C	T	12: 102,334,893 (GRCm39)	T268I	unknown	Het
Rttn	T	A	18: 89,007,647 (GRCm39)	D427E	probably benign	Het
Samd13	G	A	3: 146,352,079 (GRCm39)	P91S	probably benign	Het
Samd9l	T	C	6: 3,374,201 (GRCm39)	D1020G	possibly damaging	Het
Sec62	T	G	3: 30,866,496 (GRCm39)	L201V	possibly damaging	Het
Setdb1	C	T	3: 95,261,852 (GRCm39)		probably null	Het
Sf3a3	A	T	4: 124,616,708 (GRCm39)	T197S	probably benign	Het
Slc20a1	A	T	2: 129,051,844 (GRCm39)	I618F	possibly damaging	Het
Slc38a3	A	T	9: 107,533,865 (GRCm39)	M186K	probably benign	Het
Slc39a13	T	C	2: 90,893,503 (GRCm39)	T319A	probably benign	Het
St3gal1	A	C	15: 66,978,578 (GRCm39)	D314E	possibly damaging	Het
Suclg1	A	G	6: 73,248,074 (GRCm39)	N265S	probably benign	Het
Sult2b1	A	T	7: 45,433,361 (GRCm39)	V2D	unknown	Het
Supv3l1	T	A	10: 62,280,846 (GRCm39)	I182F	probably damaging	Het
Tcp11l2	T	C	10: 84,423,105 (GRCm39)		probably null	Het
Tenm2	C	A	11: 35,963,625 (GRCm39)	L935F	probably damaging	Het
Tnks	T	A	8: 35,318,912 (GRCm39)	I790F	probably damaging	Het
Top2b	C	T	14: 16,420,411 (GRCm38)	T1274I	probably benign	Het
Tpi1	A	T	6: 124,789,441 (GRCm39)	I178N	probably damaging	Het
Trav9d-1	A	T	14: 53,030,153 (GRCm39)	S86C	probably damaging	Het
Treml2	A	G	17: 48,616,155 (GRCm39)	E265G	probably benign	Het
Trpm7	A	T	2: 126,668,685 (GRCm39)	S744T	possibly damaging	Het
Usp33	T	A	3: 152,097,999 (GRCm39)	L909*	probably null	Het
Vcan	A	G	13: 89,869,805 (GRCm39)	I210T	probably damaging	Het
Vcan	A	T	13: 89,879,576 (GRCm39)		probably null	Het
Vsig10l	A	T	7: 43,113,099 (GRCm39)	D17V	probably benign	Het
Zbtb7b	T	A	3: 89,286,976 (GRCm39)	T498S	probably benign	Het
Zfp366	T	A	13: 99,366,076 (GRCm39)	H412Q	probably damaging	Het
Zfp53	C	A	17: 21,729,840 (GRCm39)	D624E	probably damaging	Het
Zfp827	A	T	8: 79,916,721 (GRCm39)	D432V		Het
Zic1	T	C	9: 91,247,028 (GRCm39)	T15A	probably damaging	Het
Zswim8	T	C	14: 20,770,036 (GRCm39)	C1368R	probably damaging	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
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'- TGAGAATGGCCTACAGTGCC -3'
(R):5'- TCCACTATCTGGGGATGGAG -3'

Sequencing Primer
(F):5'- TCAGAAGCCAGGACCTGC -3'
(R):5'- GCATCATAACTAAGACCATTATCACC -3'

Posted On

2019-06-26