Mutagenetix > Incidental Mutation

Incidental Mutation 'R9165:Slc4a9'

696027

Institutional Source

Beutler Lab

Gene Symbol

Slc4a9

Ensembl Gene

ENSMUSG00000024485

Gene Name

solute carrier family 4, sodium bicarbonate cotransporter, member 9

Synonyms

D630024F24Rik, AE4

MMRRC Submission

068945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R9165 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36661200-36689326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36666676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 580 (R580L)

Ref Sequence

ENSEMBL: ENSMUSP00000111358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074298] [ENSMUST00000115694]

AlphaFold

A0A494BA31

Predicted Effect

probably benign
Transcript: ENSMUST00000074298
AA Change: R508L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: R508L

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
Pfam:Band_3_cyto	80	174	4.6e-19	PFAM
Pfam:Band_3_cyto	161	300	7.1e-45	PFAM
Pfam:HCO3_cotransp	367	788	2.7e-168	PFAM
transmembrane domain	794	816	N/A	INTRINSIC
low complexity region	830	853	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115694
AA Change: R580L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: R580L

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
Pfam:Band_3_cyto	80	170	1.9e-15	PFAM
Pfam:Band_3_cyto	159	300	1e-38	PFAM
Pfam:HCO3_cotransp	349	805	3.1e-174	PFAM
Pfam:HCO3_cotransp	801	837	1.1e-11	PFAM
transmembrane domain	845	867	N/A	INTRINSIC
low complexity region	879	902	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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 is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered ion exchange in intestinal epithelia and kidney. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,357 (GRCm39)	I27V	probably benign	Het
A2ml1	T	A	6: 128,537,632 (GRCm39)	H693L	probably benign	Het
Acacb	A	G	5: 114,354,744 (GRCm39)	E1206G	probably benign	Het
Acoxl	A	G	2: 127,726,432 (GRCm39)	T269A	probably benign	Het
Ak9	A	G	10: 41,309,235 (GRCm39)	K1879R	unknown	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Bnc2	A	T	4: 84,329,731 (GRCm39)	L95Q		Het
Bpifa2	G	T	2: 153,851,741 (GRCm39)	W59L	probably benign	Het
Cd209a	T	A	8: 3,795,602 (GRCm39)	Q156H	probably damaging	Het
Cep104	T	A	4: 154,078,971 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,608,925 (GRCm39)	*799R	probably null	Het
Csn2	A	T	5: 87,842,418 (GRCm39)	M203K	possibly damaging	Het
Dclre1a	C	G	19: 56,526,801 (GRCm39)	A872P	probably damaging	Het
Dlg5	C	A	14: 24,196,309 (GRCm39)	L1629F	probably damaging	Het
Dmxl1	A	G	18: 50,011,992 (GRCm39)	D1383G	probably damaging	Het
Dnah6	A	G	6: 73,121,924 (GRCm39)	V1381A	probably damaging	Het
Dnttip2	G	T	3: 122,070,355 (GRCm39)	E523D	probably benign	Het
Dync2h1	A	T	9: 7,114,883 (GRCm39)	V2425D	probably damaging	Het
Eif1ad11	A	G	12: 87,994,077 (GRCm39)	S102G	possibly damaging	Het
Eif2a	G	A	3: 58,452,695 (GRCm39)	R199Q	probably damaging	Het
F10	T	C	8: 13,089,564 (GRCm39)	F60L	probably benign	Het
Faf2	A	G	13: 54,799,951 (GRCm39)	I253V	probably benign	Het
Flt1	T	A	5: 147,552,047 (GRCm39)	S715C	probably damaging	Het
Garin4	A	G	1: 190,895,258 (GRCm39)	S462P	probably benign	Het
Gm5150	G	T	3: 16,045,060 (GRCm39)	T55K	probably damaging	Het
Gria1	T	C	11: 57,076,759 (GRCm39)	F121L	possibly damaging	Het
Gucy2d	A	G	7: 98,103,271 (GRCm39)	Q505R	probably benign	Het
Gzma	A	T	13: 113,237,455 (GRCm39)	S11T	probably benign	Het
Hoxa6	G	A	6: 52,185,535 (GRCm39)	Q24*	probably null	Het
Kcnj14	T	A	7: 45,469,068 (GRCm39)	I146L	possibly damaging	Het
Kiss1r	G	A	10: 79,756,605 (GRCm39)	R149H	probably damaging	Het
Lama2	A	G	10: 26,929,022 (GRCm39)		probably null	Het
Lama5	C	A	2: 179,821,286 (GRCm39)	R3092L	probably damaging	Het
Lca5l	T	A	16: 95,977,218 (GRCm39)	N196I	probably damaging	Het
Lig4	A	G	8: 10,022,394 (GRCm39)	L462S	probably damaging	Het
Nbea	A	T	3: 55,912,289 (GRCm39)	V1166E	probably benign	Het
Nr2c1	T	A	10: 94,017,465 (GRCm39)	F401Y	probably benign	Het
Or10ak12	T	A	4: 118,666,195 (GRCm39)	R289*	probably null	Het
Or14c43	A	T	7: 86,114,825 (GRCm39)	M69L	probably benign	Het
Or4e5	A	G	14: 52,727,830 (GRCm39)	I197T	possibly damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Otop3	A	C	11: 115,235,424 (GRCm39)	Y352S	possibly damaging	Het
Plekha6	T	G	1: 133,200,375 (GRCm39)	L318R	probably damaging	Het
Pm20d1	G	T	1: 131,743,825 (GRCm39)	V497F	possibly damaging	Het
Pnma2	G	A	14: 67,154,572 (GRCm39)	R332H	probably damaging	Het
Ppip5k1	C	A	2: 121,162,045 (GRCm39)	G1013C	probably damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prdm2	A	G	4: 142,858,674 (GRCm39)	S1539P	possibly damaging	Het
Ptger2	A	G	14: 45,227,235 (GRCm39)	T272A	probably damaging	Het
Qser1	T	C	2: 104,618,815 (GRCm39)	T576A	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Sacm1l	G	T	9: 123,398,021 (GRCm39)	V238L	probably damaging	Het
Sanbr	T	C	11: 23,565,244 (GRCm39)	I248V	probably benign	Het
Sec16a	C	T	2: 26,313,645 (GRCm39)	G454D		Het
Sil1	A	G	18: 35,450,899 (GRCm39)	S259P	possibly damaging	Het
Sirpb1b	A	G	3: 15,639,964 (GRCm39)	L16P	probably damaging	Het
Slc22a20	A	T	19: 6,032,879 (GRCm39)	V262D	probably damaging	Het
Ssr3	A	G	3: 65,290,521 (GRCm39)	V128A	probably damaging	Het
Stpg2	G	T	3: 139,014,993 (GRCm39)	S386I	possibly damaging	Het
Taar8c	C	A	10: 23,977,500 (GRCm39)	C104F	probably damaging	Het
Tex2	T	C	11: 106,458,095 (GRCm39)	E445G	unknown	Het
Tmem253	A	C	14: 52,256,099 (GRCm39)	D126A	probably benign	Het
Tox4	A	G	14: 52,523,247 (GRCm39)	Q69R	possibly damaging	Het
Tpi1	T	A	6: 124,788,501 (GRCm39)	S254C	probably benign	Het
Trmt12	T	G	15: 58,745,594 (GRCm39)	S331A	probably benign	Het
Ttn	A	G	2: 76,543,350 (GRCm39)	V33212A	probably damaging	Het
Tubb4a	C	T	17: 57,387,734 (GRCm39)	E431K	unknown	Het
Ugt1a10	A	T	1: 87,983,509 (GRCm39)	E102D	probably benign	Het
Unc80	A	T	1: 66,589,000 (GRCm39)	E1055V	probably null	Het
Vav1	C	A	17: 57,618,895 (GRCm39)	S708R	probably damaging	Het
Vmn1r20	A	G	6: 57,409,246 (GRCm39)	M191V	probably damaging	Het
Vmn1r37	A	T	6: 66,709,054 (GRCm39)	T227S	probably damaging	Het
Vmn1r72	C	A	7: 11,412,951 (GRCm39)		probably benign	Het
Vps33b	G	A	7: 79,924,434 (GRCm39)		probably null	Het
Vrtn	T	A	12: 84,697,251 (GRCm39)	L667Q	probably benign	Het
Xirp1	G	A	9: 119,847,302 (GRCm39)	T527M	probably benign	Het
Ylpm1	T	A	12: 85,077,342 (GRCm39)	Y1356N	probably damaging	Het
Zfp980	A	T	4: 145,428,024 (GRCm39)	Y251F	possibly damaging	Het
Zmym2	A	T	14: 57,185,464 (GRCm39)	Y1032F	probably damaging	Het

Other mutations in Slc4a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Slc4a9	APN	18	36,672,649 (GRCm39)	splice site	probably benign
IGL01890:Slc4a9	APN	18	36,662,760 (GRCm39)	missense	possibly damaging	0.63
IGL01995:Slc4a9	APN	18	36,672,828 (GRCm39)	missense	possibly damaging	0.64
IGL02293:Slc4a9	APN	18	36,666,268 (GRCm39)	missense	probably benign	0.00
IGL02476:Slc4a9	APN	18	36,668,498 (GRCm39)	critical splice donor site	probably null
IGL02690:Slc4a9	APN	18	36,665,040 (GRCm39)	missense	probably damaging	1.00
IGL02726:Slc4a9	APN	18	36,672,670 (GRCm39)	missense	probably benign	0.24
IGL03003:Slc4a9	APN	18	36,669,946 (GRCm39)	missense	probably damaging	1.00
IGL03344:Slc4a9	APN	18	36,668,654 (GRCm39)	missense	probably damaging	1.00
IGL03410:Slc4a9	APN	18	36,662,740 (GRCm39)	missense	probably benign
R0025:Slc4a9	UTSW	18	36,664,719 (GRCm39)	splice site	probably benign
R0242:Slc4a9	UTSW	18	36,674,286 (GRCm39)	missense	probably damaging	1.00
R0242:Slc4a9	UTSW	18	36,674,286 (GRCm39)	missense	probably damaging	1.00
R0242:Slc4a9	UTSW	18	36,666,733 (GRCm39)	missense	probably damaging	1.00
R0242:Slc4a9	UTSW	18	36,666,733 (GRCm39)	missense	probably damaging	1.00
R0330:Slc4a9	UTSW	18	36,668,592 (GRCm39)	missense	probably damaging	1.00
R0457:Slc4a9	UTSW	18	36,668,471 (GRCm39)	missense	probably damaging	1.00
R0831:Slc4a9	UTSW	18	36,668,331 (GRCm39)	splice site	probably benign
R0989:Slc4a9	UTSW	18	36,669,920 (GRCm39)	nonsense	probably null
R1016:Slc4a9	UTSW	18	36,664,478 (GRCm39)	missense	probably benign	0.12
R1469:Slc4a9	UTSW	18	36,664,154 (GRCm39)	missense	probably benign
R1469:Slc4a9	UTSW	18	36,664,154 (GRCm39)	missense	probably benign
R1598:Slc4a9	UTSW	18	36,661,424 (GRCm39)	nonsense	probably null
R1710:Slc4a9	UTSW	18	36,665,075 (GRCm39)	missense	probably benign
R2041:Slc4a9	UTSW	18	36,663,846 (GRCm39)	missense	possibly damaging	0.93
R2216:Slc4a9	UTSW	18	36,663,798 (GRCm39)	missense	probably benign	0.05
R3899:Slc4a9	UTSW	18	36,668,616 (GRCm39)	missense	probably benign	0.09
R5236:Slc4a9	UTSW	18	36,663,900 (GRCm39)	missense	probably benign
R5902:Slc4a9	UTSW	18	36,664,560 (GRCm39)	missense	probably damaging	1.00
R5902:Slc4a9	UTSW	18	36,662,386 (GRCm39)	splice site	probably null
R5978:Slc4a9	UTSW	18	36,668,456 (GRCm39)	missense	probably damaging	1.00
R6438:Slc4a9	UTSW	18	36,668,740 (GRCm39)	missense	probably benign	0.00
R6452:Slc4a9	UTSW	18	36,664,512 (GRCm39)	missense	probably damaging	1.00
R7238:Slc4a9	UTSW	18	36,662,773 (GRCm39)	missense	probably benign	0.00
R7329:Slc4a9	UTSW	18	36,673,874 (GRCm39)	missense	possibly damaging	0.76
R7409:Slc4a9	UTSW	18	36,663,858 (GRCm39)	missense	probably damaging	0.99
R7649:Slc4a9	UTSW	18	36,661,430 (GRCm39)	missense	probably benign	0.16
R7694:Slc4a9	UTSW	18	36,669,902 (GRCm39)	missense	probably damaging	0.99
R7856:Slc4a9	UTSW	18	36,661,751 (GRCm39)	missense	probably benign	0.04
R8523:Slc4a9	UTSW	18	36,665,196 (GRCm39)	missense	possibly damaging	0.91
R9003:Slc4a9	UTSW	18	36,673,787 (GRCm39)	critical splice acceptor site	probably null
R9475:Slc4a9	UTSW	18	36,662,269 (GRCm39)	missense	probably null	1.00
R9509:Slc4a9	UTSW	18	36,668,443 (GRCm39)	missense	probably damaging	0.98
R9573:Slc4a9	UTSW	18	36,668,589 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc4a9	UTSW	18	36,664,481 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGTAGTGCTCTTTGGCTCTCC -3'
(R):5'- AAACCAGACTTTTCACGCAGG -3'

Sequencing Primer
(F):5'- GAAGAAAGCTTCCCTGGTCTTCAG -3'
(R):5'- CTTTTCACGCAGGAAAGAAAAATGAC -3'

Posted On

2022-02-07