Mutagenetix > Incidental Mutations

Incidental Mutation 'R7603:Slc4a1ap'

588113

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31526995-31556932 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31546195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 49 (L49P)

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

probably benign
Transcript: ENSMUST00000201925

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: ENSMUST00000202950
AA Change: L658P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
AA Change: L658P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably damaging	Het

Other mutations in Slc4a1ap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Slc4a1ap	APN	5	31553777	missense	probably damaging	1.00
IGL01526:Slc4a1ap	APN	5	31528227	missense	possibly damaging	0.86
R1556:Slc4a1ap	UTSW	5	31534210	splice site	probably null
R1694:Slc4a1ap	UTSW	5	31543754	missense	probably damaging	1.00
R1884:Slc4a1ap	UTSW	5	31534180	missense	probably damaging	1.00
R3787:Slc4a1ap	UTSW	5	31528139	missense	possibly damaging	0.92
R4510:Slc4a1ap	UTSW	5	31527403	missense	probably benign	0.00
R4511:Slc4a1ap	UTSW	5	31527403	missense	probably benign	0.00
R4562:Slc4a1ap	UTSW	5	31532029	missense	probably damaging	1.00
R4828:Slc4a1ap	UTSW	5	31530709	nonsense	probably null
R5611:Slc4a1ap	UTSW	5	31553829	utr 3 prime	probably benign
R5648:Slc4a1ap	UTSW	5	31550785	splice site	probably null
R5991:Slc4a1ap	UTSW	5	31534069	missense	possibly damaging	0.92
R6531:Slc4a1ap	UTSW	5	31548638	missense	probably benign	0.18
R6602:Slc4a1ap	UTSW	5	31527641	missense	probably damaging	1.00
R6770:Slc4a1ap	UTSW	5	31527882	splice site	probably null
R6844:Slc4a1ap	UTSW	5	31527478	missense	probably damaging	1.00
R7103:Slc4a1ap	UTSW	5	31543857	missense	probably benign
R7342:Slc4a1ap	UTSW	5	31536290	missense	possibly damaging	0.89
R7378:Slc4a1ap	UTSW	5	31527527	missense	probably benign
R7527:Slc4a1ap	UTSW	5	31534131	missense	probably benign	0.04
R7608:Slc4a1ap	UTSW	5	31536189	missense	possibly damaging	0.51
R7781:Slc4a1ap	UTSW	5	31527478	missense	probably damaging	1.00
R8867:Slc4a1ap	UTSW	5	31550715	missense	probably benign
R9083:Slc4a1ap	UTSW	5	31527113	missense	probably benign	0.00
R9109:Slc4a1ap	UTSW	5	31536194	missense	probably damaging	1.00
R9161:Slc4a1ap	UTSW	5	31528130	missense
R9298:Slc4a1ap	UTSW	5	31536194	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTGGAACTGCAGTGGTTCTG -3'
(R):5'- AGAAACCTCTGTACAGCCCTAG -3'

Sequencing Primer
(F):5'- TTCTGCTAGGCTTCCGGAGAC -3'
(R):5'- GTACAGCCCTAGCATCTGTATG -3'

Posted On

2019-10-24