Mutagenetix > Incidental Mutation

Incidental Mutation 'R7608:Slc4a1ap'

588427

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

045678-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R7608 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31684339-31714276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31693533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 489 (M489K)

Ref Sequence

ENSEMBL: ENSMUSP00000110179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114533] [ENSMUST00000201858] [ENSMUST00000202214] [ENSMUST00000202950]

AlphaFold

E9PX68

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114533
AA Change: M489K

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141
AA Change: M489K

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

possibly damaging
Transcript: ENSMUST00000201858
AA Change: M489K

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143960
Gene: ENSMUSG00000029141
AA Change: M489K

Domain	Start	End	E-Value	Type
FHA	134	195	3.21e-13	SMART
Blast:DSRM	316	385	2e-41	BLAST
low complexity region	405	419	N/A	INTRINSIC
coiled coil region	443	475	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202214
AA Change: M489K

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141
AA Change: M489K

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

possibly damaging
Transcript: ENSMUST00000202950
AA Change: M489K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
AA Change: M489K

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

Meta Mutation Damage Score

0.2268

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,154,347 (GRCm39)	F311S	probably benign	Het
Adamts7	C	A	9: 90,055,826 (GRCm39)	T193N	possibly damaging	Het
Akr1b7	A	G	6: 34,397,457 (GRCm39)	N273S	probably damaging	Het
Asz1	G	A	6: 18,077,252 (GRCm39)	T151M	probably damaging	Het
Atosb	A	G	4: 43,036,533 (GRCm39)	L66P	probably damaging	Het
Atrnl1	T	A	19: 57,703,119 (GRCm39)	Y1046N	probably damaging	Het
Cacna2d1	T	C	5: 16,564,022 (GRCm39)	S902P	probably damaging	Het
Casp3	T	A	8: 47,087,368 (GRCm39)	I105K	probably benign	Het
Ccdc146	C	T	5: 21,506,450 (GRCm39)	V664I	probably benign	Het
Cfap61	G	A	2: 145,805,451 (GRCm39)	C267Y	possibly damaging	Het
Dgkz	A	T	2: 91,764,399 (GRCm39)		probably null	Het
Dnah11	G	T	12: 118,104,505 (GRCm39)		probably null	Het
Duox1	C	A	2: 122,156,616 (GRCm39)	Y514*	probably null	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fan1	A	T	7: 64,003,979 (GRCm39)		probably null	Het
Fgfrl1	A	T	5: 108,853,211 (GRCm39)	K278M	probably damaging	Het
Fign	T	C	2: 63,809,063 (GRCm39)	I736V	possibly damaging	Het
Galns	A	G	8: 123,318,184 (GRCm39)	F410S	probably benign	Het
Hspbp1	C	A	7: 4,663,821 (GRCm39)	K341N	possibly damaging	Het
Idh3b	A	T	2: 130,122,900 (GRCm39)	S296R	probably damaging	Het
Ifi44	A	G	3: 151,438,045 (GRCm39)	F414S	probably damaging	Het
Kdm3a	T	A	6: 71,577,731 (GRCm39)	M690L	probably benign	Het
Ldaf1	A	G	7: 119,704,011 (GRCm39)	K19E	probably damaging	Het
Lrrc49	C	T	9: 60,510,005 (GRCm39)	G488S	probably null	Het
Mcc	T	C	18: 44,624,294 (GRCm39)	N417S	possibly damaging	Het
Melk	T	A	4: 44,325,571 (GRCm39)		probably null	Het
Mtcl1	T	C	17: 66,650,300 (GRCm39)	R1722G	probably damaging	Het
Or4a79	A	G	2: 89,551,642 (GRCm39)	V271A	probably benign	Het
Or51f23c-ps1	A	G	7: 102,431,132 (GRCm39)	I150V	probably benign	Het
Or5b119	G	A	19: 13,456,956 (GRCm39)	T202I	possibly damaging	Het
Or8d2	T	A	9: 38,759,806 (GRCm39)	V132D	possibly damaging	Het
Pdzrn3	T	C	6: 101,128,713 (GRCm39)	E651G	probably damaging	Het
Pop5	A	G	5: 115,375,931 (GRCm39)		probably benign	Het
Prox1	T	A	1: 189,885,642 (GRCm39)	M602L	probably benign	Het
Prpf39	G	A	12: 65,100,220 (GRCm39)	A298T	probably benign	Het
Scg2	T	C	1: 79,413,898 (GRCm39)	E275G	probably benign	Het
Scn11a	A	T	9: 119,644,379 (GRCm39)		probably null	Het
Slc16a4	A	T	3: 107,210,443 (GRCm39)	Y371F	probably damaging	Het
Spata13	A	G	14: 60,929,956 (GRCm39)	N505D	possibly damaging	Het
Tas2r129	A	G	6: 132,928,156 (GRCm39)	N31S	probably damaging	Het
Tnn	A	T	1: 159,915,984 (GRCm39)	Y1508*	probably null	Het
Trim23	T	C	13: 104,328,541 (GRCm39)	V354A	probably benign	Het
Tsc1	A	T	2: 28,548,748 (GRCm39)	T18S	probably benign	Het
Txlnb	A	G	10: 17,691,146 (GRCm39)	K232R	probably damaging	Het
Vmn1r53	C	T	6: 90,201,104 (GRCm39)	M73I	probably benign	Het
Vmn1r67	G	A	7: 10,181,290 (GRCm39)	V185M	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,276 (GRCm39)	I99T	probably benign	Het
Zfp318	T	G	17: 46,710,935 (GRCm39)	V886G	probably damaging	Het
Zfp760	A	G	17: 21,941,797 (GRCm39)	N324S	probably benign	Het
Zfp819	T	C	7: 43,266,357 (GRCm39)	V280A	probably benign	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
R5611:Slc4a1ap	UTSW	5	31,711,173 (GRCm39)	utr 3 prime	probably benign
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
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

PCR Primer
(F):5'- CCAAGGTCTCACACAGCTATAG -3'
(R):5'- TAGCCCTCTGGGTAAACATTTAG -3'

Sequencing Primer
(F):5'- GCCCTTTGTTGGACTGAA -3'
(R):5'- CAGGCTAGCTACATGAGATACTGTC -3'

Posted On

2019-10-24