Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03104:Slc4a4'

418863

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc4a4

Ensembl Gene

ENSMUSG00000060961

Gene Name

solute carrier family 4 (anion exchanger), member 4

Synonyms

NBC, NBC1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03104

Quality Score

Status

Chromosome

Chromosomal Location

89034345-89387512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89297231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 480 (T480A)

Ref Sequence

ENSEMBL: ENSMUSP00000118413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113218] [ENSMUST00000130041] [ENSMUST00000148750] [ENSMUST00000156238]

AlphaFold

O88343

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113218
AA Change: T515A

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108844
Gene: ENSMUSG00000060961
AA Change: T515A

Domain	Start	End	E-Value	Type
low complexity region	40	59	N/A	INTRINSIC
low complexity region	76	87	N/A	INTRINSIC
Pfam:Band_3_cyto	137	379	1.1e-100	PFAM
low complexity region	408	423	N/A	INTRINSIC
Pfam:HCO3_cotransp	426	947	3e-246	PFAM
transmembrane domain	953	975	N/A	INTRINSIC
low complexity region	999	1015	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130041
AA Change: T480A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118413
Gene: ENSMUSG00000060961
AA Change: T480A

Domain	Start	End	E-Value	Type
Pfam:Band_3_cyto	93	344	1.5e-101	PFAM
low complexity region	373	388	N/A	INTRINSIC
Pfam:HCO3_cotransp	391	912	2.7e-246	PFAM
transmembrane domain	918	940	N/A	INTRINSIC
low complexity region	964	980	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148750
AA Change: T524A

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119325
Gene: ENSMUSG00000060961
AA Change: T524A

Domain	Start	End	E-Value	Type
low complexity region	40	59	N/A	INTRINSIC
low complexity region	76	87	N/A	INTRINSIC
Pfam:Band_3_cyto	137	388	3.7e-101	PFAM
low complexity region	417	432	N/A	INTRINSIC
Pfam:HCO3_cotransp	435	956	7.3e-246	PFAM
transmembrane domain	962	984	N/A	INTRINSIC
low complexity region	1008	1024	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156238
AA Change: T524A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121744
Gene: ENSMUSG00000060961
AA Change: T524A

Domain	Start	End	E-Value	Type
low complexity region	40	59	N/A	INTRINSIC
low complexity region	76	87	N/A	INTRINSIC
Pfam:Band_3_cyto	137	388	4.6e-101	PFAM
low complexity region	417	432	N/A	INTRINSIC
Pfam:HCO3_cotransp	436	956	4.1e-231	PFAM
transmembrane domain	962	984	N/A	INTRINSIC
low complexity region	1008	1024	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	C	A	1: 58,321,918 (GRCm39)	T70K	probably benign	Het
Armt1	T	A	10: 4,389,615 (GRCm39)	Y91N	possibly damaging	Het
Atp1a2	A	G	1: 172,120,934 (GRCm39)	L46S	probably damaging	Het
Baz1a	A	G	12: 54,941,743 (GRCm39)	S1488P	probably damaging	Het
Coro7	T	A	16: 4,446,990 (GRCm39)	E793V	probably damaging	Het
Ctnnbl1	G	T	2: 157,732,885 (GRCm39)	R555L	probably damaging	Het
Dclk2	A	G	3: 86,743,666 (GRCm39)	C268R	probably damaging	Het
Dock7	A	T	4: 98,847,260 (GRCm39)	M1684K	possibly damaging	Het
Dock8	T	A	19: 25,178,384 (GRCm39)	C2092*	probably null	Het
Dtx1	T	A	5: 120,833,030 (GRCm39)	Q136L	possibly damaging	Het
Egln3	C	T	12: 54,249,981 (GRCm39)		probably benign	Het
Eml5	A	T	12: 98,827,504 (GRCm39)	Y575*	probably null	Het
Entpd5	A	T	12: 84,431,022 (GRCm39)	V310E	probably damaging	Het
Fkbp5	A	G	17: 28,634,946 (GRCm39)	F188L	probably damaging	Het
Frrs1	T	C	3: 116,675,431 (GRCm39)	S120P	probably benign	Het
Gadl1	T	C	9: 115,903,108 (GRCm39)	I479T	possibly damaging	Het
Gfra2	A	T	14: 71,205,725 (GRCm39)	M106L	probably benign	Het
Gm17455	T	A	10: 60,239,060 (GRCm39)	C108*	probably null	Het
Grhpr	A	G	4: 44,983,867 (GRCm39)		probably benign	Het
Hsp90ab1	G	A	17: 45,882,449 (GRCm39)	R82C	probably damaging	Het
Igsf10	T	C	3: 59,226,905 (GRCm39)	Y2256C	probably damaging	Het
Ivd	A	T	2: 118,703,384 (GRCm39)	I160F	probably benign	Het
Krtap5-5	A	G	7: 141,783,450 (GRCm39)	C67R	unknown	Het
Lhx4	A	T	1: 155,580,967 (GRCm39)	V186E	probably damaging	Het
Lrrk2	T	C	15: 91,631,958 (GRCm39)	I1294T	possibly damaging	Het
Map3k5	C	T	10: 20,007,801 (GRCm39)	S1202L	probably benign	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Mov10	G	A	3: 104,704,623 (GRCm39)	R763W	probably damaging	Het
Mto1	T	C	9: 78,356,802 (GRCm39)	S106P	probably damaging	Het
Naca	C	T	10: 127,876,233 (GRCm39)		probably benign	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or8s10	A	G	15: 98,336,127 (GRCm39)	Y259C	possibly damaging	Het
Pan2	T	C	10: 128,151,532 (GRCm39)		probably benign	Het
Pold1	T	C	7: 44,190,004 (GRCm39)	Y394C	probably damaging	Het
Sipa1l1	T	A	12: 82,388,904 (GRCm39)	S377T	probably benign	Het
Sirpd	G	T	3: 15,397,283 (GRCm39)		probably benign	Het
Slc36a3	A	G	11: 55,015,946 (GRCm39)	S403P	probably damaging	Het
Slu7	G	A	11: 43,332,883 (GRCm39)	V315I	probably benign	Het
St6galnac3	T	C	3: 152,911,115 (GRCm39)	E282G	probably damaging	Het
Tlr12	A	G	4: 128,509,685 (GRCm39)	V855A	probably benign	Het
Tut7	T	C	13: 59,962,717 (GRCm39)	D350G	probably benign	Het
Vmn1r53	T	A	6: 90,200,944 (GRCm39)	K127*	probably null	Het
Vmn1r72	T	G	7: 11,403,812 (GRCm39)	H212P	probably damaging	Het
Vmn2r86	T	A	10: 130,282,501 (GRCm39)	Q705L	probably damaging	Het
Vps33b	C	T	7: 79,925,831 (GRCm39)	R93C	probably damaging	Het
Wdr91	T	A	6: 34,882,491 (GRCm39)	E219D	probably benign	Het
Zan	G	A	5: 137,461,762 (GRCm39)	T1139I	unknown	Het
Zc3hav1	T	A	6: 38,317,278 (GRCm39)	K107N	probably damaging	Het
Zmym2	A	G	14: 57,187,784 (GRCm39)	E1150G	possibly damaging	Het

Other mutations in Slc4a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Slc4a4	APN	5	89,327,545 (GRCm39)	missense	probably benign	0.01
IGL00976:Slc4a4	APN	5	89,102,657 (GRCm39)	missense	probably damaging	1.00
IGL01074:Slc4a4	APN	5	89,327,633 (GRCm39)	missense	probably damaging	1.00
IGL01120:Slc4a4	APN	5	89,280,238 (GRCm39)	missense	probably damaging	1.00
IGL01284:Slc4a4	APN	5	89,277,532 (GRCm39)	missense	probably benign	0.22
IGL01375:Slc4a4	APN	5	89,327,593 (GRCm39)	missense	probably damaging	1.00
IGL01399:Slc4a4	APN	5	89,376,794 (GRCm39)	missense	probably damaging	1.00
IGL01487:Slc4a4	APN	5	89,376,715 (GRCm39)	missense	probably benign	0.19
IGL02501:Slc4a4	APN	5	89,277,508 (GRCm39)	missense	probably benign	0.13
IGL03157:Slc4a4	APN	5	89,304,372 (GRCm39)	missense	probably damaging	0.99
IGL03205:Slc4a4	APN	5	89,297,189 (GRCm39)	missense	probably benign	0.00
IGL03356:Slc4a4	APN	5	89,270,342 (GRCm39)	missense	probably benign	0.00
IGL03372:Slc4a4	APN	5	89,304,285 (GRCm39)	missense	probably damaging	1.00
IGL03382:Slc4a4	APN	5	89,376,695 (GRCm39)	missense	probably damaging	1.00
camera	UTSW	5	89,280,366 (GRCm39)	missense	probably damaging	1.00
pixels	UTSW	5	89,270,262 (GRCm39)	missense	probably damaging	0.99
Shutter	UTSW	5	89,373,807 (GRCm39)	missense	probably damaging	1.00
Tetrapod	UTSW	5	89,376,831 (GRCm39)	missense	probably damaging	1.00
Therapod	UTSW	5	89,283,581 (GRCm39)	missense	probably damaging	1.00
tripod	UTSW	5	89,297,192 (GRCm39)	missense	possibly damaging	0.52
BB008:Slc4a4	UTSW	5	89,318,640 (GRCm39)	missense	probably benign	0.00
BB018:Slc4a4	UTSW	5	89,318,640 (GRCm39)	missense	probably benign	0.00
PIT4515001:Slc4a4	UTSW	5	89,281,112 (GRCm39)	missense	probably damaging	1.00
PIT4544001:Slc4a4	UTSW	5	89,186,402 (GRCm39)	missense	probably damaging	1.00
R0007:Slc4a4	UTSW	5	89,186,437 (GRCm39)	missense	probably damaging	1.00
R0052:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0052:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0054:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0055:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0230:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0234:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0234:Slc4a4	UTSW	5	89,304,195 (GRCm39)	missense	possibly damaging	0.71
R0632:Slc4a4	UTSW	5	89,277,500 (GRCm39)	missense	probably damaging	1.00
R1199:Slc4a4	UTSW	5	89,363,653 (GRCm39)	critical splice donor site	probably null
R1597:Slc4a4	UTSW	5	89,283,587 (GRCm39)	missense	probably benign	0.01
R1783:Slc4a4	UTSW	5	89,280,273 (GRCm39)	missense	probably damaging	1.00
R1813:Slc4a4	UTSW	5	89,194,167 (GRCm39)	missense	probably damaging	0.98
R1896:Slc4a4	UTSW	5	89,194,167 (GRCm39)	missense	probably damaging	0.98
R2000:Slc4a4	UTSW	5	89,176,206 (GRCm39)	missense	probably damaging	1.00
R2139:Slc4a4	UTSW	5	89,194,123 (GRCm39)	missense	probably damaging	1.00
R2163:Slc4a4	UTSW	5	89,362,435 (GRCm39)	missense	probably damaging	1.00
R2513:Slc4a4	UTSW	5	89,304,257 (GRCm39)	missense	probably benign	0.00
R2873:Slc4a4	UTSW	5	89,283,623 (GRCm39)	missense	probably damaging	1.00
R2995:Slc4a4	UTSW	5	89,082,673 (GRCm39)	missense	probably damaging	1.00
R3054:Slc4a4	UTSW	5	89,373,807 (GRCm39)	missense	probably damaging	1.00
R3055:Slc4a4	UTSW	5	89,373,807 (GRCm39)	missense	probably damaging	1.00
R3055:Slc4a4	UTSW	5	89,280,366 (GRCm39)	missense	probably damaging	1.00
R3056:Slc4a4	UTSW	5	89,373,807 (GRCm39)	missense	probably damaging	1.00
R3617:Slc4a4	UTSW	5	89,382,663 (GRCm39)	missense	probably benign	0.00
R3856:Slc4a4	UTSW	5	89,380,698 (GRCm39)	missense	probably benign	0.00
R3863:Slc4a4	UTSW	5	89,283,507 (GRCm39)	missense	possibly damaging	0.95
R3896:Slc4a4	UTSW	5	89,345,625 (GRCm39)	splice site	probably benign
R4007:Slc4a4	UTSW	5	89,362,452 (GRCm39)	missense	probably damaging	1.00
R4616:Slc4a4	UTSW	5	89,186,420 (GRCm39)	missense	probably damaging	1.00
R4740:Slc4a4	UTSW	5	89,373,753 (GRCm39)	missense	probably damaging	1.00
R5009:Slc4a4	UTSW	5	89,297,157 (GRCm39)	critical splice acceptor site	probably null
R5119:Slc4a4	UTSW	5	89,102,721 (GRCm39)	missense	probably null	0.97
R5228:Slc4a4	UTSW	5	89,304,384 (GRCm39)	missense	possibly damaging	0.50
R5394:Slc4a4	UTSW	5	89,345,623 (GRCm39)	critical splice donor site	probably null
R5396:Slc4a4	UTSW	5	89,194,076 (GRCm39)	missense	probably benign	0.00
R5662:Slc4a4	UTSW	5	89,176,103 (GRCm39)	missense	probably damaging	0.96
R5664:Slc4a4	UTSW	5	89,176,103 (GRCm39)	missense	probably damaging	0.96
R6021:Slc4a4	UTSW	5	89,188,261 (GRCm39)	intron	probably benign
R6088:Slc4a4	UTSW	5	89,345,563 (GRCm39)	missense	probably benign	0.12
R6337:Slc4a4	UTSW	5	89,194,231 (GRCm39)	missense	probably benign	0.21
R6416:Slc4a4	UTSW	5	89,327,588 (GRCm39)	missense	probably benign	0.26
R6452:Slc4a4	UTSW	5	89,376,839 (GRCm39)	missense	probably benign	0.05
R6524:Slc4a4	UTSW	5	89,380,623 (GRCm39)	missense	probably benign	0.01
R6566:Slc4a4	UTSW	5	89,297,192 (GRCm39)	missense	possibly damaging	0.52
R6727:Slc4a4	UTSW	5	89,318,624 (GRCm39)	missense	probably benign	0.00
R6844:Slc4a4	UTSW	5	89,376,831 (GRCm39)	missense	probably damaging	1.00
R6970:Slc4a4	UTSW	5	89,327,690 (GRCm39)	missense	probably damaging	0.98
R7021:Slc4a4	UTSW	5	89,188,205 (GRCm39)	splice site	probably null
R7180:Slc4a4	UTSW	5	89,194,095 (GRCm39)	missense	probably damaging	0.97
R7197:Slc4a4	UTSW	5	89,082,433 (GRCm39)	intron	probably benign
R7246:Slc4a4	UTSW	5	89,270,262 (GRCm39)	missense	probably damaging	0.99
R7309:Slc4a4	UTSW	5	89,318,610 (GRCm39)	missense	probably benign
R7412:Slc4a4	UTSW	5	89,362,506 (GRCm39)	splice site	probably null
R7492:Slc4a4	UTSW	5	89,277,509 (GRCm39)	missense	possibly damaging	0.92
R7561:Slc4a4	UTSW	5	89,347,556 (GRCm39)	missense	probably damaging	1.00
R7577:Slc4a4	UTSW	5	89,373,726 (GRCm39)	missense	probably damaging	0.97
R7609:Slc4a4	UTSW	5	89,283,545 (GRCm39)	missense	probably damaging	1.00
R7781:Slc4a4	UTSW	5	89,376,791 (GRCm39)	missense	possibly damaging	0.78
R7931:Slc4a4	UTSW	5	89,318,640 (GRCm39)	missense	probably benign	0.00
R7950:Slc4a4	UTSW	5	89,206,137 (GRCm39)	splice site	probably null
R8078:Slc4a4	UTSW	5	89,327,566 (GRCm39)	missense	probably benign	0.00
R8313:Slc4a4	UTSW	5	89,194,122 (GRCm39)	missense	possibly damaging	0.84
R8332:Slc4a4	UTSW	5	89,327,680 (GRCm39)	missense	probably benign	0.11
R8534:Slc4a4	UTSW	5	89,283,581 (GRCm39)	missense	probably damaging	1.00
R8735:Slc4a4	UTSW	5	89,280,301 (GRCm39)	missense	probably damaging	1.00
R8786:Slc4a4	UTSW	5	89,232,549 (GRCm39)	missense	probably benign	0.07
R8968:Slc4a4	UTSW	5	89,232,512 (GRCm39)	missense	probably benign
R9014:Slc4a4	UTSW	5	89,280,245 (GRCm39)	missense	probably damaging	1.00
R9031:Slc4a4	UTSW	5	89,205,568 (GRCm39)	intron	probably benign
R9195:Slc4a4	UTSW	5	89,281,055 (GRCm39)	missense	possibly damaging	0.82
R9236:Slc4a4	UTSW	5	89,194,158 (GRCm39)	nonsense	probably null
R9261:Slc4a4	UTSW	5	89,347,568 (GRCm39)	missense	probably damaging	1.00
R9325:Slc4a4	UTSW	5	89,376,756 (GRCm39)	missense	probably damaging	1.00
R9401:Slc4a4	UTSW	5	89,327,525 (GRCm39)	missense	probably damaging	1.00
R9457:Slc4a4	UTSW	5	89,362,432 (GRCm39)	missense	probably damaging	1.00
R9462:Slc4a4	UTSW	5	89,194,131 (GRCm39)	missense	probably damaging	1.00
R9681:Slc4a4	UTSW	5	89,102,723 (GRCm39)	nonsense	probably null
R9709:Slc4a4	UTSW	5	89,188,205 (GRCm39)	splice site	probably null
Z1177:Slc4a4	UTSW	5	89,280,318 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02