Mutagenetix > Incidental Mutation

Incidental Mutation 'R9195:Slc4a4'

697896

Institutional Source

Beutler Lab

Gene Symbol

Slc4a4

Ensembl Gene

ENSMUSG00000060961

Gene Name

solute carrier family 4 (anion exchanger), member 4

Synonyms

NBC, NBC1

MMRRC Submission

068954-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89034345-89387512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89281055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 407 (N407K)

Ref Sequence

ENSEMBL: ENSMUSP00000108844 (fasta)

Gene Model

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

AlphaFold

O88343

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113218
AA Change: N407K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108844
Gene: ENSMUSG00000060961
AA Change: N407K

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 benign
Transcript: ENSMUST00000130041
AA Change: N372K

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118413
Gene: ENSMUSG00000060961
AA Change: N372K

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: N416K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119325
Gene: ENSMUSG00000060961
AA Change: N416K

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: N416K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121744
Gene: ENSMUSG00000060961
AA Change: N416K

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

Meta Mutation Damage Score

0.1217

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (39/39)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot10	G	C	15: 20,665,517 (GRCm39)	T408R	probably damaging	Het
Ak9	A	G	10: 41,283,479 (GRCm39)	Y1310C		Het
Atp6v1c1	T	A	15: 38,674,198 (GRCm39)	F64I	probably damaging	Het
Bahcc1	A	G	11: 120,167,337 (GRCm39)	E1246G	probably benign	Het
Brca2	T	A	5: 150,463,418 (GRCm39)	S1061T	possibly damaging	Het
Brd10	A	G	19: 29,763,703 (GRCm39)	I124T		Het
Cep83	A	G	10: 94,604,801 (GRCm39)	R505G	possibly damaging	Het
Clasp2	A	G	9: 113,671,045 (GRCm39)	E382G	probably benign	Het
Cnksr3	A	T	10: 7,088,379 (GRCm39)	H235Q	probably damaging	Het
Ctsh	A	T	9: 89,944,815 (GRCm39)	H90L	probably benign	Het
Cybrd1	G	A	2: 70,968,742 (GRCm39)	G205D	probably damaging	Het
Cyfip2	A	T	11: 46,161,455 (GRCm39)	I345N	probably damaging	Het
Ech1	T	C	7: 28,525,446 (GRCm39)	L67P	probably damaging	Het
Ect2l	T	C	10: 18,018,836 (GRCm39)	N612S	probably benign	Het
Gm8186	T	A	17: 26,318,092 (GRCm39)	D35V	probably damaging	Het
Ighv1-15	T	C	12: 114,621,139 (GRCm39)	H62R	probably benign	Het
Kcns1	A	T	2: 164,009,778 (GRCm39)	L327Q	probably damaging	Het
Lbr	T	C	1: 181,663,837 (GRCm39)	K61R	probably benign	Het
Mrpl36	G	A	13: 73,479,498 (GRCm39)	A3T	unknown	Het
Nectin3	G	A	16: 46,279,259 (GRCm39)	R240*	probably null	Het
Nek10	T	C	14: 14,821,139 (GRCm38)	L35P	probably benign	Het
Nr1d1	A	G	11: 98,659,883 (GRCm39)	V547A	possibly damaging	Het
Obscn	A	T	11: 58,942,040 (GRCm39)	I4445N	probably damaging	Het
Or51i2	T	C	7: 103,689,345 (GRCm39)	I114T	probably damaging	Het
Pcdhgb1	T	G	18: 37,814,157 (GRCm39)	V216G	probably damaging	Het
Pklr	T	C	3: 89,048,636 (GRCm39)	S100P	probably damaging	Het
R3hdm1	T	A	1: 128,089,975 (GRCm39)	S70T	probably benign	Het
Rec114	T	G	9: 58,567,534 (GRCm39)	T151P	probably benign	Het
Riok3	TTTCATT	TTT	18: 12,282,642 (GRCm39)		probably null	Het
Slc33a1	A	G	3: 63,871,188 (GRCm39)	S142P	probably damaging	Het
Slc5a4b	A	G	10: 75,898,149 (GRCm39)	C522R	probably damaging	Het
Tcim	A	T	8: 24,928,878 (GRCm39)	M12K	probably damaging	Het
Tenm4	T	A	7: 96,542,126 (GRCm39)	Y1917N	probably damaging	Het
Ttll1	A	G	15: 83,373,779 (GRCm39)	Y345H	probably benign	Het
Urb1	A	G	16: 90,589,638 (GRCm39)	V381A	probably benign	Het
Wnt16	T	C	6: 22,297,932 (GRCm39)	M266T	probably benign	Het
Zfyve26	T	C	12: 79,311,168 (GRCm39)	I1562V	probably benign	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
IGL03104:Slc4a4	APN	5	89,297,231 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAACTCTTTGTTGACCCAACCATC -3'
(R):5'- GGCTGACCAATGGAACAAAC -3'

Sequencing Primer
(F):5'- GAACACTTCAAGAATTACCTGTTAGC -3'
(R):5'- GGAACAAACCAACAAAGAAAACACTG -3'

Posted On

2022-02-07