Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Slc4a9'

715738

Institutional Source

Beutler Lab

Gene Symbol

Slc4a9

Ensembl Gene

ENSMUSG00000024485

Gene Name

solute carrier family 4, sodium bicarbonate cotransporter, member 9

Synonyms

AE4, D630024F24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36528157-36541293 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36529216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 127 (E127V)

Ref Sequence

ENSEMBL: ENSMUSP00000111358 (fasta)

Gene Model

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

AlphaFold

A0A494BA31

Predicted Effect

probably damaging
Transcript: ENSMUST00000074298
AA Change: E127V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: E127V

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 null
Transcript: ENSMUST00000115694
AA Change: E127V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: E127V

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: 99.6%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,016,468	W243R	probably damaging	Het
Ablim1	T	G	19: 57,239,180	K18Q	probably benign	Het
Adamts18	T	A	8: 113,777,938	N174Y	possibly damaging	Het
Agbl2	A	G	2: 90,784,093	H23R	probably benign	Het
Akap6	T	G	12: 53,010,552	Y934D	probably damaging	Het
Alas1	C	T	9: 106,234,062	S635N	probably benign	Het
Ankrd24	A	G	10: 81,642,299		probably null	Het
Atp6v0a4	A	G	6: 38,060,982	L560P	probably damaging	Het
Cacng1	C	T	11: 107,716,292	V34M	possibly damaging	Het
Clcn3	C	T	8: 60,934,517	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,799,135	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,130	S719G	probably damaging	Het
Exosc2	G	A	2: 31,674,743	V107I	probably benign	Het
Fam83b	C	A	9: 76,491,803	V673F	probably benign	Het
Fras1	T	C	5: 96,780,070	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,998,660	L289H	probably damaging	Het
Garem1	T	C	18: 21,148,313	I329V	probably benign	Het
Gli3	G	A	13: 15,725,711	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,574,361	F72S	possibly damaging	Het
Hao1	T	A	2: 134,548,261	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Iqcm	A	G	8: 75,753,455	E347G	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnrg	A	G	14: 61,607,657	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,235,346	G524S	probably benign	Het
Lrrn1	A	T	6: 107,568,300	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,805,471	T623A	probably benign	Het
Ndst4	C	A	3: 125,714,647	S287*	probably null	Het
Ntrk3	A	C	7: 78,302,732	M579R	probably benign	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr169	T	C	16: 19,566,520	D121G	probably benign	Het
Olfr857	T	C	9: 19,713,643	M272T	probably benign	Het
Paqr5	T	A	9: 61,956,225	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,007,538	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,167,927	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,494,380	Q186*	probably null	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,495,738	G161C	probably damaging	Het
Ptprk	T	C	10: 28,334,480	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Rpap2	T	A	5: 107,620,589	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,102,064	K160*	probably null	Het
Sema7a	T	C	9: 57,954,905	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,753,027	L741F	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Skint6	C	T	4: 112,806,840		probably null	Het
Skiv2l	A	T	17: 34,841,102	D897E	probably benign	Het
Slc35f3	T	C	8: 126,382,254	S181P	probably damaging	Het
Spata5	T	C	3: 37,431,909	V260A	probably benign	Het
Speg	C	T	1: 75,388,091	T372I	probably damaging	Het
Syce1l	A	G	8: 113,655,103	T204A	probably benign	Het
Tas2r138	T	A	6: 40,612,458	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,213,604	K285N	probably damaging	Het
Trim9	T	A	12: 70,346,454	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,209,280	S1293P	probably benign	Het
Uaca	C	T	9: 60,872,216	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,875,569	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,216,260	R201C	probably damaging	Het
Vps45	T	G	3: 96,042,925	T231P	probably damaging	Het
Wdr17	A	T	8: 54,635,477	D1186E	probably benign	Het
Zfp534	G	A	4: 147,682,274	T8I	probably benign	Het
Zfp68	T	C	5: 138,607,255	N269D	probably benign	Het

Other mutations in Slc4a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Slc4a9	APN	18	36539596	splice site	probably benign
IGL01890:Slc4a9	APN	18	36529707	missense	possibly damaging	0.63
IGL01995:Slc4a9	APN	18	36539775	missense	possibly damaging	0.64
IGL02293:Slc4a9	APN	18	36533215	missense	probably benign	0.00
IGL02476:Slc4a9	APN	18	36535445	critical splice donor site	probably null
IGL02690:Slc4a9	APN	18	36531987	missense	probably damaging	1.00
IGL02726:Slc4a9	APN	18	36539617	missense	probably benign	0.24
IGL03003:Slc4a9	APN	18	36536893	missense	probably damaging	1.00
IGL03344:Slc4a9	APN	18	36535601	missense	probably damaging	1.00
IGL03410:Slc4a9	APN	18	36529687	missense	probably benign
R0025:Slc4a9	UTSW	18	36531666	splice site	probably benign
R0242:Slc4a9	UTSW	18	36533680	missense	probably damaging	1.00
R0242:Slc4a9	UTSW	18	36541233	missense	probably damaging	1.00
R0242:Slc4a9	UTSW	18	36533680	missense	probably damaging	1.00
R0242:Slc4a9	UTSW	18	36541233	missense	probably damaging	1.00
R0330:Slc4a9	UTSW	18	36535539	missense	probably damaging	1.00
R0457:Slc4a9	UTSW	18	36535418	missense	probably damaging	1.00
R0831:Slc4a9	UTSW	18	36535278	splice site	probably benign
R0989:Slc4a9	UTSW	18	36536867	nonsense	probably null
R1016:Slc4a9	UTSW	18	36531425	missense	probably benign	0.12
R1469:Slc4a9	UTSW	18	36531101	missense	probably benign
R1469:Slc4a9	UTSW	18	36531101	missense	probably benign
R1598:Slc4a9	UTSW	18	36528371	nonsense	probably null
R1710:Slc4a9	UTSW	18	36532022	missense	probably benign
R2041:Slc4a9	UTSW	18	36530793	missense	possibly damaging	0.93
R2216:Slc4a9	UTSW	18	36530745	missense	probably benign	0.05
R3899:Slc4a9	UTSW	18	36535563	missense	probably benign	0.09
R5236:Slc4a9	UTSW	18	36530847	missense	probably benign
R5902:Slc4a9	UTSW	18	36529333	splice site	probably null
R5902:Slc4a9	UTSW	18	36531507	missense	probably damaging	1.00
R5978:Slc4a9	UTSW	18	36535403	missense	probably damaging	1.00
R6438:Slc4a9	UTSW	18	36535687	missense	probably benign	0.00
R6452:Slc4a9	UTSW	18	36531459	missense	probably damaging	1.00
R7238:Slc4a9	UTSW	18	36529720	missense	probably benign	0.00
R7329:Slc4a9	UTSW	18	36540821	missense	possibly damaging	0.76
R7409:Slc4a9	UTSW	18	36530805	missense	probably damaging	0.99
R7649:Slc4a9	UTSW	18	36528377	missense	probably benign	0.16
R7694:Slc4a9	UTSW	18	36536849	missense	probably damaging	0.99
R7856:Slc4a9	UTSW	18	36528698	missense	probably benign	0.04
R8523:Slc4a9	UTSW	18	36532143	missense	possibly damaging	0.91
R9003:Slc4a9	UTSW	18	36540734	critical splice acceptor site	probably null
R9165:Slc4a9	UTSW	18	36533623	missense	probably benign	0.00
R9509:Slc4a9	UTSW	18	36535390	missense	probably damaging	0.98
R9573:Slc4a9	UTSW	18	36535536	missense	probably damaging	1.00
Z1177:Slc4a9	UTSW	18	36531428	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCTCAGAGATAGTGATGGTAAGGC -3'
(R):5'- AAACGTAGAGGATCCCTGGGAC -3'

Sequencing Primer
(F):5'- CAGCTCGGTCTATGTAGTAAGACC -3'
(R):5'- TGGGACCCTCCTACCCTAGAATC -3'

Posted On

2022-06-15