Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:Slc4a1ap'

525340

Institutional Source

Beutler Lab

Gene Symbol

Slc4a1ap

Ensembl Gene

ENSMUSG00000029141

Gene Name

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

Synonyms

kanadaptin

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.720) question?

Stock #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31526995-31556932 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31527641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 207 (H207R)

Ref Sequence

ENSEMBL: ENSMUSP00000144613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065388] [ENSMUST00000114533] [ENSMUST00000200721] [ENSMUST00000201769] [ENSMUST00000201858] [ENSMUST00000202214] [ENSMUST00000202421] [ENSMUST00000202950]

AlphaFold

E9PX68

Predicted Effect

probably benign
Transcript: ENSMUST00000065388

SMART Domains

Protein: ENSMUSP00000067337
Gene: ENSMUSG00000053134

Domain	Start	End	E-Value	Type
low complexity region	79	89	N/A	INTRINSIC
low complexity region	95	117	N/A	INTRINSIC
BTP	149	228	5.13e-25	SMART
low complexity region	378	393	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114533
AA Change: H207R

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

SMART Domains

Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141
AA Change: H207R

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: ENSMUST00000200721

SMART Domains

Protein: ENSMUSP00000144294
Gene: ENSMUSG00000053134

Domain	Start	End	E-Value	Type
low complexity region	30	40	N/A	INTRINSIC
low complexity region	46	68	N/A	INTRINSIC
BTP	100	179	5.13e-25	SMART
low complexity region	329	344	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201692

Predicted Effect

probably benign
Transcript: ENSMUST00000201769

SMART Domains

Protein: ENSMUSP00000144065
Gene: ENSMUSG00000053134

Domain	Start	End	E-Value	Type
low complexity region	79	89	N/A	INTRINSIC
low complexity region	95	117	N/A	INTRINSIC
BTP	149	228	5.13e-25	SMART
low complexity region	378	393	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201858
AA Change: H207R

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

SMART Domains

Protein: ENSMUSP00000143960
Gene: ENSMUSG00000029141
AA Change: H207R

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

noncoding transcript
Transcript: ENSMUST00000202016

Predicted Effect

probably damaging
Transcript: ENSMUST00000202214
AA Change: H207R

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

SMART Domains

Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141
AA Change: H207R

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: ENSMUST00000202421

SMART Domains

Protein: ENSMUSP00000143795
Gene: ENSMUSG00000053134

Domain	Start	End	E-Value	Type
low complexity region	79	89	N/A	INTRINSIC
low complexity region	95	117	N/A	INTRINSIC
BTP	149	228	5.13e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202932

Predicted Effect

probably damaging
Transcript: ENSMUST00000202950
AA Change: H207R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
AA Change: H207R

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

0.9110

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 124,639,254	L250P	probably damaging	Het
4921539E11Rik	T	C	4: 103,255,572	H12R	probably benign	Het
Abca4	A	C	3: 122,138,501	Q268P	probably benign	Het
Adgrf5	T	A	17: 43,450,304	N963K	probably benign	Het
Arl10	A	G	13: 54,578,937	D176G	probably damaging	Het
Btnl1	T	A	17: 34,385,748	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,615,980	T1079K	probably benign	Het
Cd163	T	A	6: 124,311,635	W342R	probably damaging	Het
Cd70	T	C	17: 57,149,562	S14G	probably benign	Het
Chil4	C	A	3: 106,210,590	K121N	probably benign	Het
Csf1r	A	G	18: 61,110,425	D171G	possibly damaging	Het
Cyp4a31	A	T	4: 115,569,707		probably null	Het
D3Ertd254e	G	T	3: 36,164,855	L341F	possibly damaging	Het
Dapk1	A	T	13: 60,749,204	I746F	probably benign	Het
Erbb4	A	G	1: 68,370,503	S192P	probably damaging	Het
Exoc8	C	A	8: 124,896,411	V406L	probably damaging	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Greb1	A	T	12: 16,709,440	V652E	probably benign	Het
Ift88	A	G	14: 57,507,259	S745G	probably benign	Het
Il18bp	T	C	7: 102,016,030		probably benign	Het
Il6st	A	G	13: 112,504,413	T908A	probably damaging	Het
Klk11	A	G	7: 43,774,774	S6G	probably benign	Het
Mastl	T	C	2: 23,132,677	Y678C	probably benign	Het
Msra	A	T	14: 64,123,339	H184Q	probably benign	Het
Muc16	A	C	9: 18,609,476		probably null	Het
Myo3a	T	G	2: 22,577,787	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 66,681,540		probably null	Het
Olfr463	T	C	11: 87,893,652	T91A	probably benign	Het
Olfr830	A	G	9: 18,875,849	D174G	possibly damaging	Het
Olfr867	C	T	9: 20,055,046	R139Q	probably benign	Het
Pcdhb18	A	T	18: 37,490,480	I288F	probably damaging	Het
Pitpna	T	G	11: 75,620,315	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,978,221	V81E	possibly damaging	Het
Rab11fip2	T	A	19: 59,942,856	T49S	probably damaging	Het
Rsl24d1	T	A	9: 73,113,510	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,219,318	N161S	probably damaging	Het
Shank1	A	G	7: 44,352,336	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,229,209	S550P	probably damaging	Het
Sphkap	T	A	1: 83,275,758	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,881,753		probably benign	Het
Ubqln5	T	A	7: 104,129,489	S43C	probably benign	Het
Vps13d	G	A	4: 145,103,664		probably benign	Het
Wwp1	A	T	4: 19,641,816	V413D	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
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
R7603:Slc4a1ap	UTSW	5	31546195	missense
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
R9460:Slc4a1ap	UTSW	5	31528119	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TATGTCTGGAGCATCCTTCCG -3'
(R):5'- CAGAATGAGGCCTGTGCTTTTG -3'

Sequencing Primer
(F):5'- GTGTCTCGGTACCATGCTGTAC -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'

Posted On

2018-06-22