Mutagenetix > Incidental Mutation

Incidental Mutation 'R7238:Slc4a9'

563042

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

045345-MU

Accession Numbers

Essential gene?

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

Stock #

R7238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36661200-36689326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36662773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 176 (E176G)

Ref Sequence

ENSEMBL: ENSMUSP00000111358 (fasta)

Gene Model

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

AlphaFold

A0A494BA31

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074298
AA Change: E176G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: E176G

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: E176G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: E176G

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

Meta Mutation Damage Score

0.2005

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

97% (104/107)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,775,712 (GRCm39)	T1634S	probably damaging	Het
Adgrl1	T	A	8: 84,665,693 (GRCm39)	M1460K	probably damaging	Het
Adig	T	A	2: 158,347,773 (GRCm39)	L29Q	unknown	Het
Adnp	T	G	2: 168,025,887 (GRCm39)	K469N	probably damaging	Het
Akap3	A	G	6: 126,842,200 (GRCm39)	D273G	probably benign	Het
Albfm1	A	T	5: 90,727,519 (GRCm39)	Y379F	probably damaging	Het
Ankrd34b	T	C	13: 92,575,139 (GRCm39)	Y124H	possibly damaging	Het
Ap2b1	T	G	11: 83,223,948 (GRCm39)	F221C	possibly damaging	Het
Atp2c2	A	G	8: 120,469,160 (GRCm39)	I358V	possibly damaging	Het
BC051665	G	A	13: 60,930,536 (GRCm39)	T272I	probably benign	Het
Cdan1	G	T	2: 120,560,783 (GRCm39)	A262E	probably benign	Het
Ces1d	C	T	8: 93,904,763 (GRCm39)	V326I	probably benign	Het
Chd3	T	C	11: 69,254,873 (GRCm39)	R156G	probably benign	Het
Clip1	C	T	5: 123,751,328 (GRCm39)	E818K		Het
Col6a4	C	T	9: 105,877,519 (GRCm39)	V2153M	probably damaging	Het
Crlf3	T	C	11: 79,947,351 (GRCm39)	N296D	possibly damaging	Het
Cstdc6	C	T	16: 36,142,193 (GRCm39)	G61D	probably benign	Het
D130052B06Rik	A	G	11: 33,573,594 (GRCm39)	I109V	probably benign	Het
Dcaf5	G	T	12: 80,385,483 (GRCm39)	T881K	probably benign	Het
Dennd4a	C	A	9: 64,769,238 (GRCm39)	T408K	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnah2	A	G	11: 69,349,972 (GRCm39)		probably null	Het
Eif1ad8	A	T	12: 87,564,006 (GRCm39)	K114*	probably null	Het
Eif2ak2	C	T	17: 79,173,760 (GRCm39)	V273I	probably benign	Het
Elac1	C	T	18: 73,872,359 (GRCm39)	G212D	probably damaging	Het
Ercc6l2	A	G	13: 64,013,798 (GRCm39)	D623G	probably damaging	Het
Exo1	T	C	1: 175,716,413 (GRCm39)	F177L	probably damaging	Het
Fat4	A	G	3: 38,944,562 (GRCm39)	T1152A	probably benign	Het
Fbxl12	G	T	9: 20,529,709 (GRCm39)		probably null	Het
Fbxo43	T	C	15: 36,151,971 (GRCm39)	Y582C	probably damaging	Het
Fsip2	T	A	2: 82,812,484 (GRCm39)	N2934K	possibly damaging	Het
Gna12	A	G	5: 140,815,847 (GRCm39)	S69P	probably damaging	Het
Gpatch8	C	A	11: 102,369,354 (GRCm39)	G1395C	probably damaging	Het
Gpr137c	A	G	14: 45,516,148 (GRCm39)	Y294C	probably damaging	Het
Greb1	A	G	12: 16,724,673 (GRCm39)	S1834P	probably damaging	Het
Grin2b	T	C	6: 135,757,249 (GRCm39)	D404G	probably damaging	Het
Hectd2	A	T	19: 36,574,478 (GRCm39)	N236I	probably damaging	Het
Hhip	C	T	8: 80,713,641 (GRCm39)	V562I	probably benign	Het
Hipk2	G	T	6: 38,692,992 (GRCm39)	T867N	probably benign	Het
Hmgcl	T	C	4: 135,689,424 (GRCm39)	V294A	possibly damaging	Het
Hnrnpl	T	A	7: 28,513,400 (GRCm39)	F158I		Het
Hspa5	T	C	2: 34,662,383 (GRCm39)	V17A	unknown	Het
Hspg2	T	C	4: 137,235,704 (GRCm39)	V168A	probably damaging	Het
Idh1	A	G	1: 65,205,284 (GRCm39)	F227S	probably damaging	Het
Iigp1c	A	G	18: 60,379,355 (GRCm39)	S297G	possibly damaging	Het
Immp2l	T	C	12: 41,160,915 (GRCm39)	V71A	possibly damaging	Het
Iqce	G	A	5: 140,675,713 (GRCm39)	R193*	probably null	Het
Kcnq5	T	C	1: 21,472,526 (GRCm39)	D907G	probably benign	Het
Krt17	T	A	11: 100,148,613 (GRCm39)	T306S	probably benign	Het
Lhx3	T	C	2: 26,093,009 (GRCm39)	D149G	probably damaging	Het
Lrrc73	G	A	17: 46,565,488 (GRCm39)	R73H	probably damaging	Het
Mgat5b	T	C	11: 116,875,809 (GRCm39)	S678P	probably benign	Het
Mink1	T	C	11: 70,502,305 (GRCm39)		probably null	Het
Mroh5	T	G	15: 73,663,278 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,363,254 (GRCm39)	H2188Q	unknown	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Musk	G	A	4: 58,344,312 (GRCm39)	G305D	probably benign	Het
Mx1	A	G	16: 97,249,496 (GRCm39)	I347T	unknown	Het
Mybbp1a	G	T	11: 72,334,338 (GRCm39)	V198F	probably damaging	Het
Mycbp2	A	G	14: 103,393,733 (GRCm39)	S2943P	probably damaging	Het
Myo18a	G	A	11: 77,733,059 (GRCm39)	R1363K	probably damaging	Het
Nav3	T	A	10: 109,689,185 (GRCm39)	D364V	possibly damaging	Het
Or13g1	T	C	7: 85,955,799 (GRCm39)	H174R	probably damaging	Het
Or14j6	T	C	17: 38,215,328 (GRCm39)	L297S	probably benign	Het
Or1e26	A	T	11: 73,480,561 (GRCm39)	M1K	probably null	Het
Or1j13	T	A	2: 36,369,726 (GRCm39)	N139Y	possibly damaging	Het
Or5k15	T	A	16: 58,710,252 (GRCm39)	E110D	probably damaging	Het
Pecr	T	C	1: 72,298,592 (GRCm39)	D276G	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1cb	A	T	5: 32,648,376 (GRCm39)	T320S	probably benign	Het
Ppp1r9a	G	T	6: 5,159,716 (GRCm39)	K1084N	probably damaging	Het
Prdm2	A	G	4: 142,862,391 (GRCm39)	S300P	probably benign	Het
Prkg1	C	T	19: 30,602,090 (GRCm39)	V389I	probably damaging	Het
Psg25	C	T	7: 18,266,127 (GRCm39)		probably benign	Het
Ptpn6	A	G	6: 124,698,821 (GRCm39)	S498P	possibly damaging	Het
Pus3	A	G	9: 35,477,965 (GRCm39)	H399R	probably benign	Het
Pus7	T	C	5: 23,983,450 (GRCm39)	T6A	probably benign	Het
Rnf169	A	G	7: 99,574,954 (GRCm39)	V547A	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,128 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,794,807 (GRCm39)	D1194N	probably benign	Het
Scn5a	T	C	9: 119,320,610 (GRCm39)	M1490V	possibly damaging	Het
Sec23b	A	G	2: 144,432,258 (GRCm39)	D756G	possibly damaging	Het
Selenoo	T	A	15: 88,973,427 (GRCm39)	M39K	probably benign	Het
Septin8	T	G	11: 53,427,519 (GRCm39)	V246G	possibly damaging	Het
Serpina3k	T	A	12: 104,309,367 (GRCm39)	N270K	probably damaging	Het
Setd5	G	A	6: 113,098,091 (GRCm39)	R710H	probably damaging	Het
Sirt4	A	T	5: 115,621,049 (GRCm39)	I41N	possibly damaging	Het
Slc26a9	T	A	1: 131,686,556 (GRCm39)	Y425*	probably null	Het
Speer1m	T	C	5: 11,970,712 (GRCm39)	I127T		Het
Spidr	A	T	16: 15,784,680 (GRCm39)	W463R	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmcc1	G	A	6: 116,111,198 (GRCm39)	Q28*	probably null	Het
Tmem52b	A	G	6: 129,493,651 (GRCm39)	E88G	probably damaging	Het
Trpc7	A	T	13: 56,974,710 (GRCm39)	I402K	probably benign	Het
Tshz3	T	C	7: 36,469,522 (GRCm39)	Y504H	probably damaging	Het
Ttn	T	C	2: 76,542,549 (GRCm39)	E33479G	possibly damaging	Het
Ttn	G	A	2: 76,711,672 (GRCm39)	R8290C	unknown	Het
Urb1	T	C	16: 90,549,003 (GRCm39)	D2235G	possibly damaging	Het
Usp10	T	C	8: 120,668,283 (GRCm39)	F195L	probably benign	Het
Vmn1r31	A	T	6: 58,449,858 (GRCm39)	F2L		Het
Vmn2r109	C	T	17: 20,761,336 (GRCm39)	V674M	probably damaging	Het
Vmn2r12	G	A	5: 109,245,655 (GRCm39)	P26S	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,629 (GRCm39)	M414K	possibly damaging	Het
Yipf3	T	C	17: 46,562,585 (GRCm39)	V330A	probably benign	Het
Zic4	A	T	9: 91,261,450 (GRCm39)	H235L	probably benign	Het
Zxdc	T	A	6: 90,346,642 (GRCm39)	W16R	unknown	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
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
R9165:Slc4a9	UTSW	18	36,666,676 (GRCm39)	missense	probably benign	0.00
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'- GAGTGCCAGGGACTTAACAG -3'
(R):5'- CTCAAAGGGTTCTGGTGCTG -3'

Sequencing Primer
(F):5'- CTCCCAAGGGCTGTATTTGGC -3'
(R):5'- CTGGGTGGCAGAGCATG -3'

Posted On

2019-06-26