Mutagenetix > Incidental Mutation

Incidental Mutation 'R8221:Slc4a3'

636666

Institutional Source

Beutler Lab

Gene Symbol

Slc4a3

Ensembl Gene

ENSMUSG00000006576

Gene Name

solute carrier family 4 (anion exchanger), member 3

Synonyms

Ae3, A930038D23Rik

MMRRC Submission

067639-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R8221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75522688-75536075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75528810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 491 (M491K)

Ref Sequence

ENSEMBL: ENSMUSP00000116747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027415] [ENSMUST00000124341] [ENSMUST00000138814] [ENSMUST00000150142] [ENSMUST00000154101]

AlphaFold

P16283

Predicted Effect

unknown
Transcript: ENSMUST00000027415
AA Change: H499Q

SMART Domains

Protein: ENSMUSP00000027415
Gene: ENSMUSG00000006576
AA Change: H499Q

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC
low complexity region	88	100	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	128	161	N/A	INTRINSIC
low complexity region	194	216	N/A	INTRINSIC
low complexity region	304	316	N/A	INTRINSIC
Pfam:Band_3_cyto	349	500	7.9e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124341
AA Change: M491K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: M491K

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC
low complexity region	88	100	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	128	161	N/A	INTRINSIC
low complexity region	194	216	N/A	INTRINSIC
low complexity region	304	316	N/A	INTRINSIC
Pfam:Band_3_cyto	349	618	2.9e-106	PFAM
low complexity region	629	639	N/A	INTRINSIC
Pfam:HCO3_cotransp	674	1156	3.6e-203	PFAM
transmembrane domain	1161	1183	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119942
Gene: ENSMUSG00000006576
AA Change: M42K

Domain	Start	End	E-Value	Type
SCOP:d1hynp_	4	72	9e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138814

SMART Domains

Protein: ENSMUSP00000122749
Gene: ENSMUSG00000006576

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119860
Gene: ENSMUSG00000006576
AA Change: C196S

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Pfam:Band_3_cyto	50	193	4.2e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150142

SMART Domains

Protein: ENSMUSP00000120078
Gene: ENSMUSG00000006576

Domain	Start	End	E-Value	Type
low complexity region	74	83	N/A	INTRINSIC
low complexity region	88	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154101

SMART Domains

Protein: ENSMUSP00000116488
Gene: ENSMUSG00000006576

Domain	Start	End	E-Value	Type
low complexity region	107	119	N/A	INTRINSIC
Pfam:Band_3_cyto	152	227	2e-32	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (74/74)

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 plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for one knock-out allele show inner retina defects including selective ERG b-wave depression, optic nerve and retinal vessel anomalies, sheathing of retinal vessels and late onset photoreceptor death. Homozygotes for another knock-out allele are more sensitive to seizure-inducing agents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,410,576 (GRCm39)	F134S	probably damaging	Het
Acsl5	T	C	19: 55,257,262 (GRCm39)		probably null	Het
Adam29	G	T	8: 56,325,463 (GRCm39)	N330K	probably benign	Het
Adgrv1	A	G	13: 81,677,033 (GRCm39)	S1933P	probably benign	Het
Afap1l2	T	C	19: 56,902,824 (GRCm39)	H785R	probably damaging	Het
Ahnak	T	A	19: 8,987,800 (GRCm39)	L3028*	probably null	Het
Ajuba	T	C	14: 54,807,847 (GRCm39)	T462A	possibly damaging	Het
Ankrd36	A	G	11: 5,534,016 (GRCm39)	N289S	possibly damaging	Het
Ankrd46	A	T	15: 36,486,001 (GRCm39)	L84Q	probably damaging	Het
Ankrd54	T	G	15: 78,940,270 (GRCm39)	D163A	probably damaging	Het
Arhgef28	A	G	13: 98,282,064 (GRCm39)	L10P	probably benign	Het
Atm	A	T	9: 53,367,288 (GRCm39)		probably null	Het
Azin1	G	C	15: 38,492,572 (GRCm39)	F312L	probably damaging	Het
C2cd4c	A	G	10: 79,448,482 (GRCm39)	S222P	probably damaging	Het
Cdyl	A	G	13: 36,000,147 (GRCm39)	T143A	probably benign	Het
Clhc1	G	A	11: 29,503,751 (GRCm39)	V56I	possibly damaging	Het
Cntn4	T	C	6: 106,486,471 (GRCm39)	S300P	probably benign	Het
Col12a1	A	G	9: 79,551,224 (GRCm39)	Y2131H	probably damaging	Het
Cyp3a41b	A	G	5: 145,506,190 (GRCm39)	S287P	probably benign	Het
Dctn4	A	G	18: 60,689,401 (GRCm39)	D424G	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dop1b	A	G	16: 93,546,847 (GRCm39)	T284A	probably benign	Het
E330034G19Rik	A	C	14: 24,346,135 (GRCm39)		probably null	Het
Ehhadh	G	A	16: 21,581,373 (GRCm39)	P540S	possibly damaging	Het
Emsy	T	C	7: 98,297,111 (GRCm39)	E24G	probably damaging	Het
F930015N05Rik	A	C	11: 64,326,418 (GRCm39)	L74W	unknown	Het
Fat1	A	G	8: 45,406,390 (GRCm39)	D1047G		Het
Galnt7	A	G	8: 58,005,600 (GRCm39)	V211A	possibly damaging	Het
Gdap2	T	C	3: 100,109,611 (GRCm39)	C543R	unknown	Het
Ghr	A	C	15: 3,362,901 (GRCm39)	D190E	probably benign	Het
Glrx	A	G	13: 75,995,346 (GRCm39)	M89V	probably benign	Het
Gm10323	A	C	13: 67,000,859 (GRCm39)	Y91*	noncoding transcript	Het
Gnb4	A	T	3: 32,644,184 (GRCm39)	D153E	possibly damaging	Het
Gnptab	G	T	10: 88,276,254 (GRCm39)		probably null	Het
Grip2	T	C	6: 91,762,665 (GRCm39)	D193G	possibly damaging	Het
Igsf3	T	C	3: 101,347,038 (GRCm39)	W658R	probably damaging	Het
Ip6k1	T	A	9: 107,923,115 (GRCm39)	F416I	probably benign	Het
Klhl1	T	G	14: 96,517,546 (GRCm39)	T377P	possibly damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Lrrfip1	T	C	1: 91,042,878 (GRCm39)	S428P	probably benign	Het
Megf10	A	G	18: 57,416,893 (GRCm39)	D754G	probably benign	Het
Mrgprx2	T	A	7: 48,132,527 (GRCm39)	Y97F	probably benign	Het
Msantd2	T	G	9: 37,400,684 (GRCm39)	V22G	probably damaging	Het
Myl6b	T	C	10: 128,333,209 (GRCm39)	K11R	unknown	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Npas1	T	C	7: 16,189,890 (GRCm39)	E552G	probably damaging	Het
Pknox2	T	C	9: 36,821,040 (GRCm39)	N274S	possibly damaging	Het
Pmepa1	A	T	2: 173,069,700 (GRCm39)	L247Q	probably damaging	Het
Poll	T	C	19: 45,542,047 (GRCm39)	K420E	probably damaging	Het
Polr2a	A	G	11: 69,628,344 (GRCm39)	V1283A	probably benign	Het
Ppil4	A	T	10: 7,671,444 (GRCm39)	Y36F	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Psd2	C	T	18: 36,113,478 (GRCm39)	R317W	probably damaging	Het
Pspc1	T	A	14: 57,015,616 (GRCm39)	M1L	probably benign	Het
Qrsl1	A	T	10: 43,758,080 (GRCm39)	F338I	possibly damaging	Het
Rcor3	A	G	1: 191,814,749 (GRCm39)	Y77H	unknown	Het
Sbno2	G	A	10: 79,905,845 (GRCm39)	P157L	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Setd3	C	G	12: 108,073,612 (GRCm39)	G555A	possibly damaging	Het
Slc12a4	A	T	8: 106,678,601 (GRCm39)	M245K	probably benign	Het
Slc1a5	T	A	7: 16,515,902 (GRCm39)	L26Q	probably benign	Het
Slc38a3	T	G	9: 107,534,908 (GRCm39)	M156L	probably damaging	Het
Slc45a2	A	T	15: 11,001,233 (GRCm39)	I111F	probably benign	Het
Son	A	G	16: 91,453,734 (GRCm39)	D827G	probably damaging	Het
Sppl2c	A	T	11: 104,077,710 (GRCm39)	H170L	probably damaging	Het
St6gal2	T	A	17: 55,797,935 (GRCm39)		probably null	Het
Taf4b	T	A	18: 15,031,106 (GRCm39)	L830H	probably damaging	Het
Tex22	A	G	12: 113,038,696 (GRCm39)		probably null	Het
Tiam2	C	T	17: 3,568,860 (GRCm39)	R1669C	probably damaging	Het
Tmprss15	T	A	16: 78,821,223 (GRCm39)	N506I	probably damaging	Het
Topors	A	T	4: 40,260,686 (GRCm39)	I866K	unknown	Het
Trip12	G	T	1: 84,743,771 (GRCm39)	T512K	possibly damaging	Het
Ubr1	T	A	2: 120,791,585 (GRCm39)	H133L	probably damaging	Het
Wwtr1	T	C	3: 57,366,441 (GRCm39)	D422G	probably damaging	Het
Zfp689	A	C	7: 127,043,758 (GRCm39)	C291G	probably damaging	Het
Zfyve9	A	G	4: 108,576,877 (GRCm39)	L68P	possibly damaging	Het
Zswim5	G	T	4: 116,735,219 (GRCm39)	R188L	probably benign	Het

Other mutations in Slc4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Slc4a3	APN	1	75,531,727 (GRCm39)	missense	probably damaging	1.00
IGL00979:Slc4a3	APN	1	75,530,891 (GRCm39)	missense	probably damaging	1.00
IGL01488:Slc4a3	APN	1	75,525,520 (GRCm39)	missense	probably benign	0.45
IGL01567:Slc4a3	APN	1	75,527,526 (GRCm39)	missense	probably damaging	1.00
IGL03090:Slc4a3	APN	1	75,531,661 (GRCm39)	missense	probably benign	0.00
IGL03135:Slc4a3	APN	1	75,524,579 (GRCm39)	unclassified	probably benign
R0004:Slc4a3	UTSW	1	75,533,653 (GRCm39)	unclassified	probably benign
R0479:Slc4a3	UTSW	1	75,528,472 (GRCm39)	unclassified	probably benign
R0507:Slc4a3	UTSW	1	75,532,725 (GRCm39)	missense	probably damaging	1.00
R0591:Slc4a3	UTSW	1	75,525,665 (GRCm39)	missense	probably damaging	1.00
R0742:Slc4a3	UTSW	1	75,532,725 (GRCm39)	missense	probably damaging	1.00
R1577:Slc4a3	UTSW	1	75,527,535 (GRCm39)	missense	probably damaging	1.00
R1794:Slc4a3	UTSW	1	75,533,952 (GRCm39)	missense	probably damaging	0.99
R1804:Slc4a3	UTSW	1	75,528,361 (GRCm39)	missense	probably damaging	1.00
R1911:Slc4a3	UTSW	1	75,530,367 (GRCm39)	missense	probably damaging	1.00
R1974:Slc4a3	UTSW	1	75,528,835 (GRCm39)	nonsense	probably null
R2696:Slc4a3	UTSW	1	75,532,119 (GRCm39)	missense	possibly damaging	0.46
R2995:Slc4a3	UTSW	1	75,529,306 (GRCm39)	nonsense	probably null
R3962:Slc4a3	UTSW	1	75,533,398 (GRCm39)	missense	probably damaging	0.99
R4025:Slc4a3	UTSW	1	75,525,685 (GRCm39)	missense	probably damaging	1.00
R4824:Slc4a3	UTSW	1	75,527,267 (GRCm39)	missense	possibly damaging	0.54
R4858:Slc4a3	UTSW	1	75,531,729 (GRCm39)	missense	probably damaging	1.00
R5075:Slc4a3	UTSW	1	75,534,012 (GRCm39)	missense	probably damaging	1.00
R5450:Slc4a3	UTSW	1	75,529,300 (GRCm39)	missense	probably damaging	1.00
R5636:Slc4a3	UTSW	1	75,530,860 (GRCm39)	missense	possibly damaging	0.82
R5728:Slc4a3	UTSW	1	75,526,484 (GRCm39)	missense	probably benign	0.05
R5921:Slc4a3	UTSW	1	75,534,088 (GRCm39)	critical splice donor site	probably null
R5969:Slc4a3	UTSW	1	75,526,623 (GRCm39)	missense	probably damaging	0.98
R6272:Slc4a3	UTSW	1	75,531,341 (GRCm39)	critical splice donor site	probably null
R6749:Slc4a3	UTSW	1	75,531,182 (GRCm39)	nonsense	probably null
R6788:Slc4a3	UTSW	1	75,527,959 (GRCm39)	missense	probably damaging	1.00
R7308:Slc4a3	UTSW	1	75,534,006 (GRCm39)	missense	probably benign	0.00
R7487:Slc4a3	UTSW	1	75,530,021 (GRCm39)	missense	probably benign	0.05
R7673:Slc4a3	UTSW	1	75,533,995 (GRCm39)	missense	probably damaging	1.00
R7968:Slc4a3	UTSW	1	75,528,007 (GRCm39)	missense	probably benign	0.00
R8004:Slc4a3	UTSW	1	75,525,711 (GRCm39)	critical splice donor site	probably null
R8084:Slc4a3	UTSW	1	75,532,589 (GRCm39)	missense	probably benign	0.25
R8109:Slc4a3	UTSW	1	75,528,448 (GRCm39)	missense	possibly damaging	0.88
R8358:Slc4a3	UTSW	1	75,530,359 (GRCm39)	missense	probably damaging	1.00
R8520:Slc4a3	UTSW	1	75,526,506 (GRCm39)	missense	probably benign
R8759:Slc4a3	UTSW	1	75,531,282 (GRCm39)	missense	probably damaging	1.00
R8988:Slc4a3	UTSW	1	75,527,957 (GRCm39)	missense	probably damaging	1.00
R9515:Slc4a3	UTSW	1	75,533,612 (GRCm39)	missense	probably damaging	0.98
R9758:Slc4a3	UTSW	1	75,534,319 (GRCm39)	missense	probably damaging	1.00
Z1176:Slc4a3	UTSW	1	75,530,879 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCCTGTGCTGATGATACAG -3'
(R):5'- GAAGATAGGACTCAGTAGCTTCCTC -3'

Sequencing Primer
(F):5'- ATGTGCCTGACCCATTGGAG -3'
(R):5'- TTCCTCTAGAAGCTCAGGGG -3'

Posted On

2020-07-13