Mutagenetix > Incidental Mutation

Incidental Mutation 'R5611:Slc4a1ap'

457994

Institutional Source

Beutler Lab

Gene Symbol

Slc4a1ap

Ensembl Gene

ENSMUSG00000029141

Gene Name

solute carrier family 4 (anion exchanger), member 1, adaptor protein

Synonyms

kanadaptin

MMRRC Submission

043273-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R5611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31684339-31714276 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 31711173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114533] [ENSMUST00000202214] [ENSMUST00000202950]

AlphaFold

E9PX68

Predicted Effect

probably benign
Transcript: ENSMUST00000114533

SMART Domains

Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141

Domain	Start	End	E-Value	Type
FHA	134	195	3.21e-13	SMART
Blast:DSRM	316	385	9e-41	BLAST
low complexity region	405	419	N/A	INTRINSIC
coiled coil region	443	475	N/A	INTRINSIC
coiled coil region	588	619	N/A	INTRINSIC
low complexity region	622	631	N/A	INTRINSIC
low complexity region	666	679	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201789

Predicted Effect

unknown
Transcript: ENSMUST00000201925
AA Change: M178V

Predicted Effect

probably benign
Transcript: ENSMUST00000202214

SMART Domains

Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141

Domain	Start	End	E-Value	Type
FHA	134	195	3.21e-13	SMART
Blast:DSRM	316	385	9e-41	BLAST
low complexity region	405	419	N/A	INTRINSIC
coiled coil region	443	475	N/A	INTRINSIC
coiled coil region	588	619	N/A	INTRINSIC
low complexity region	622	631	N/A	INTRINSIC
low complexity region	666	679	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202575

Predicted Effect

probably benign
Transcript: ENSMUST00000202950

SMART Domains

Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141

Domain	Start	End	E-Value	Type
FHA	134	195	3.21e-13	SMART
Blast:DSRM	316	385	1e-40	BLAST
low complexity region	405	419	N/A	INTRINSIC
coiled coil region	443	475	N/A	INTRINSIC
coiled coil region	588	619	N/A	INTRINSIC
low complexity region	622	631	N/A	INTRINSIC
low complexity region	695	708	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	C	11: 48,910,828 (GRCm39)	T535R	possibly damaging	Het
Adam34	A	T	8: 44,104,749 (GRCm39)	F299I	probably benign	Het
Adamts20	A	G	15: 94,171,161 (GRCm39)	M1854T	possibly damaging	Het
Adrm1b	G	A	3: 92,335,758 (GRCm39)	P315S	probably damaging	Het
Apbb1	A	G	7: 105,208,690 (GRCm39)	V581A	probably damaging	Het
Apol6	T	A	15: 76,935,240 (GRCm39)		probably null	Het
Arhgef37	T	C	18: 61,640,334 (GRCm39)	T242A	probably benign	Het
Asxl2	T	C	12: 3,534,598 (GRCm39)	V265A	probably damaging	Het
Bicd1	A	T	6: 149,414,954 (GRCm39)	R556*	probably null	Het
C2	A	G	17: 35,091,360 (GRCm39)	I101T	probably damaging	Het
Cd22	T	A	7: 30,577,575 (GRCm39)		probably benign	Het
Cd33	T	C	7: 43,181,542 (GRCm39)	H206R	probably damaging	Het
Cd5l	G	A	3: 87,275,082 (GRCm39)	G207D	possibly damaging	Het
Chrd	A	T	16: 20,557,724 (GRCm39)	D774V	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Csn1s1	A	T	5: 87,825,503 (GRCm39)		probably null	Het
Dpyd	G	A	3: 118,987,942 (GRCm39)	V704I	probably benign	Het
Dscc1	C	A	15: 54,945,569 (GRCm39)	Q312H	probably benign	Het
Dysf	A	T	6: 84,041,860 (GRCm39)	T154S	probably damaging	Het
Foxi2	T	C	7: 135,013,433 (GRCm39)	V221A	probably benign	Het
Gabbr2	A	T	4: 46,804,105 (GRCm39)	I250N	probably damaging	Het
Gfap	T	A	11: 102,787,895 (GRCm39)	T17S	probably benign	Het
Hcrtr2	A	G	9: 76,230,596 (GRCm39)	V64A	probably damaging	Het
Igkv4-86	A	G	6: 68,887,659 (GRCm39)	S27P	probably damaging	Het
Kalrn	G	T	16: 33,996,150 (GRCm39)	F903L	probably damaging	Het
Lrrc31	A	G	3: 30,745,304 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,314,219 (GRCm39)	T656A	probably benign	Het
Mss51	G	T	14: 20,533,174 (GRCm39)	S432R	possibly damaging	Het
Mzf1	A	G	7: 12,778,554 (GRCm39)		probably benign	Het
Nop58	T	A	1: 59,749,672 (GRCm39)		probably benign	Het
Or10al5	A	T	17: 38,062,975 (GRCm39)	I77F	possibly damaging	Het
Otogl	T	C	10: 107,622,630 (GRCm39)	E1652G	probably damaging	Het
Pikfyve	C	A	1: 65,295,247 (GRCm39)	N1459K	probably damaging	Het
Pkn3	G	A	2: 29,969,673 (GRCm39)	G61D	probably damaging	Het
Plekha4	T	C	7: 45,203,065 (GRCm39)	S581P	probably benign	Het
Ppm1g	A	G	5: 31,363,441 (GRCm39)	F256L	probably damaging	Het
Proser1	A	G	3: 53,386,296 (GRCm39)	N726S	probably benign	Het
Rapgef1	A	G	2: 29,592,448 (GRCm39)	D480G	probably damaging	Het
Reln	G	A	5: 22,244,663 (GRCm39)	Q772*	probably null	Het
Sh3gl2	T	C	4: 85,273,568 (GRCm39)	V40A	probably benign	Het
Slc22a23	G	A	13: 34,489,222 (GRCm39)	T221I	probably benign	Het
Slc22a28	T	A	19: 8,040,698 (GRCm39)	T518S	probably damaging	Het
St8sia4	T	C	1: 95,555,409 (GRCm39)	D207G	probably damaging	Het
Syde1	T	A	10: 78,421,725 (GRCm39)	T609S	probably benign	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tle4	T	C	19: 14,427,159 (GRCm39)	D754G	probably damaging	Het
Ttn	C	T	2: 76,562,869 (GRCm39)	W26949*	probably null	Het
Vmn1r222	A	C	13: 23,416,743 (GRCm39)	S157A	probably damaging	Het
Vmn1r51	T	A	6: 90,106,692 (GRCm39)	L203M	probably benign	Het
Vmn1r6	T	C	6: 56,979,362 (GRCm39)	L8P	probably damaging	Het
Vmn2r103	A	G	17: 20,013,904 (GRCm39)	D232G	probably damaging	Het
Vmn2r17	T	A	5: 109,576,030 (GRCm39)	D300E	probably damaging	Het
Vmn2r66	T	A	7: 84,654,951 (GRCm39)	K453*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Vps54	A	G	11: 21,261,130 (GRCm39)	N599S	possibly damaging	Het
Zc3h13	A	T	14: 75,568,348 (GRCm39)	N1214Y	probably benign	Het
Zc3h18	T	G	8: 123,135,109 (GRCm39)		probably null	Het
Zfp51	A	G	17: 21,684,354 (GRCm39)	E323G	probably damaging	Het

Other mutations in Slc4a1ap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Slc4a1ap	APN	5	31,711,121 (GRCm39)	missense	probably damaging	1.00
IGL01526:Slc4a1ap	APN	5	31,685,571 (GRCm39)	missense	possibly damaging	0.86
R1556:Slc4a1ap	UTSW	5	31,691,554 (GRCm39)	splice site	probably null
R1694:Slc4a1ap	UTSW	5	31,701,098 (GRCm39)	missense	probably damaging	1.00
R1884:Slc4a1ap	UTSW	5	31,691,524 (GRCm39)	missense	probably damaging	1.00
R3787:Slc4a1ap	UTSW	5	31,685,483 (GRCm39)	missense	possibly damaging	0.92
R4510:Slc4a1ap	UTSW	5	31,684,747 (GRCm39)	missense	probably benign	0.00
R4511:Slc4a1ap	UTSW	5	31,684,747 (GRCm39)	missense	probably benign	0.00
R4562:Slc4a1ap	UTSW	5	31,689,373 (GRCm39)	missense	probably damaging	1.00
R4828:Slc4a1ap	UTSW	5	31,688,053 (GRCm39)	nonsense	probably null
R5648:Slc4a1ap	UTSW	5	31,708,129 (GRCm39)	splice site	probably null
R5991:Slc4a1ap	UTSW	5	31,691,413 (GRCm39)	missense	possibly damaging	0.92
R6531:Slc4a1ap	UTSW	5	31,705,982 (GRCm39)	missense	probably benign	0.18
R6602:Slc4a1ap	UTSW	5	31,684,985 (GRCm39)	missense	probably damaging	1.00
R6770:Slc4a1ap	UTSW	5	31,685,226 (GRCm39)	splice site	probably null
R6844:Slc4a1ap	UTSW	5	31,684,822 (GRCm39)	missense	probably damaging	1.00
R7103:Slc4a1ap	UTSW	5	31,701,201 (GRCm39)	missense	probably benign
R7342:Slc4a1ap	UTSW	5	31,693,634 (GRCm39)	missense	possibly damaging	0.89
R7378:Slc4a1ap	UTSW	5	31,684,871 (GRCm39)	missense	probably benign
R7527:Slc4a1ap	UTSW	5	31,691,475 (GRCm39)	missense	probably benign	0.04
R7603:Slc4a1ap	UTSW	5	31,703,539 (GRCm39)	missense
R7608:Slc4a1ap	UTSW	5	31,693,533 (GRCm39)	missense	possibly damaging	0.51
R7781:Slc4a1ap	UTSW	5	31,684,822 (GRCm39)	missense	probably damaging	1.00
R8867:Slc4a1ap	UTSW	5	31,708,059 (GRCm39)	missense	probably benign
R9083:Slc4a1ap	UTSW	5	31,684,457 (GRCm39)	missense	probably benign	0.00
R9109:Slc4a1ap	UTSW	5	31,693,538 (GRCm39)	missense	probably damaging	1.00
R9161:Slc4a1ap	UTSW	5	31,685,474 (GRCm39)	missense
R9298:Slc4a1ap	UTSW	5	31,693,538 (GRCm39)	missense	probably damaging	1.00
R9460:Slc4a1ap	UTSW	5	31,685,463 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2017-02-16