Mutagenetix > Incidental Mutation

Incidental Mutation 'R4510:Slc4a1ap'

331203

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

041585-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R4510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31684339-31714276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31684747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 128 (T128S)

Ref Sequence

ENSEMBL: ENSMUSP00000144613 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000114533
AA Change: T128S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141
AA Change: T128S

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: ENSMUST00000117319
AA Change: T128S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114077
Gene: ENSMUSG00000029141
AA Change: T128S

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

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

probably benign
Transcript: ENSMUST00000202950
AA Change: T128S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
AA Change: T128S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201858
AA Change: T128S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143960
Gene: ENSMUSG00000029141
AA Change: T128S

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 benign
Transcript: ENSMUST00000202214
AA Change: T128S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141
AA Change: T128S

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

noncoding transcript
Transcript: ENSMUST00000202932

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 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,819 (GRCm39)	D397E	probably benign	Het
Abcc10	A	G	17: 46,618,136 (GRCm39)	F1005L	probably damaging	Het
Ackr4	T	C	9: 103,975,930 (GRCm39)	E339G	probably benign	Het
Adam39	G	T	8: 41,279,328 (GRCm39)	C573F	probably damaging	Het
Anks1b	A	G	10: 90,346,652 (GRCm39)	T651A	probably benign	Het
Aoc1	C	A	6: 48,884,740 (GRCm39)	H594Q	probably damaging	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
Atp4a	G	T	7: 30,423,678 (GRCm39)	E928*	probably null	Het
Atp5pf	T	C	16: 84,624,862 (GRCm39)	D104G	probably benign	Het
Atp8b5	A	G	4: 43,320,629 (GRCm39)	T206A	probably damaging	Het
Atrn	G	A	2: 130,777,497 (GRCm39)	W182*	probably null	Het
Bltp2	T	C	11: 78,168,154 (GRCm39)	S1530P	possibly damaging	Het
Cacna1e	G	A	1: 154,437,579 (GRCm39)	T257I	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Crebrf	A	G	17: 26,961,938 (GRCm39)	Y345C	probably benign	Het
Cyp26b1	G	A	6: 84,551,473 (GRCm39)	R248W	probably damaging	Het
Dclk3	C	A	9: 111,297,060 (GRCm39)	H201Q	probably benign	Het
Ddx17	A	T	15: 79,422,793 (GRCm39)	V315E	probably damaging	Het
Dhrs11	T	C	11: 84,716,342 (GRCm39)	*51W	probably null	Het
Fgfr4	C	A	13: 55,309,328 (GRCm39)	P455Q	possibly damaging	Het
Gabbr1	A	G	17: 37,380,103 (GRCm39)	K697E	probably damaging	Het
Gcnt1	G	A	19: 17,307,641 (GRCm39)	T28I	probably benign	Het
Gga2	G	A	7: 121,620,301 (GRCm39)	T4M	unknown	Het
Gm12185	T	A	11: 48,799,305 (GRCm39)	H396L	possibly damaging	Het
Gm21976	A	G	13: 98,441,839 (GRCm39)	R123G	probably benign	Het
Hecw1	A	C	13: 14,531,776 (GRCm39)	V166G	probably damaging	Het
Hpx	A	G	7: 105,241,295 (GRCm39)	V372A	possibly damaging	Het
Igkv2-109	A	G	6: 68,279,962 (GRCm39)	Y61C	probably damaging	Het
Igsf1	A	G	X: 48,875,050 (GRCm39)	F789S	probably damaging	Het
Il4ra	A	G	7: 125,175,280 (GRCm39)	D496G	possibly damaging	Het
Ilf3	A	G	9: 21,310,511 (GRCm39)	T547A	possibly damaging	Het
Insrr	C	A	3: 87,715,978 (GRCm39)	P558T	possibly damaging	Het
Ints9	A	G	14: 65,266,381 (GRCm39)	D411G	possibly damaging	Het
Irak3	T	A	10: 119,981,813 (GRCm39)	H393L	probably damaging	Het
Isx	G	A	8: 75,600,298 (GRCm39)	M10I	probably benign	Het
Itga11	A	G	9: 62,668,870 (GRCm39)	D709G	probably damaging	Het
Kcng2	G	T	18: 80,338,930 (GRCm39)	R453S	probably benign	Het
Kif5b	A	G	18: 6,214,011 (GRCm39)	V664A	probably benign	Het
Lalba	A	G	15: 98,380,422 (GRCm39)	L44P	probably benign	Het
Ldlrad1	T	G	4: 107,066,715 (GRCm39)	F17V	probably benign	Het
Lnx1	C	T	5: 74,780,853 (GRCm39)	D382N	probably damaging	Het
Lrp1	T	C	10: 127,429,717 (GRCm39)	Y451C	probably damaging	Het
Lrp2	A	T	2: 69,310,406 (GRCm39)	N2722K	possibly damaging	Het
Mctp1	G	A	13: 76,973,391 (GRCm39)	V431I	probably benign	Het
Mmrn2	T	C	14: 34,125,016 (GRCm39)	F866L	possibly damaging	Het
Mylk2	A	G	2: 152,759,330 (GRCm39)	E367G	probably damaging	Het
Nfatc1	A	G	18: 80,678,794 (GRCm39)	S865P	probably damaging	Het
Nol6	G	C	4: 41,123,526 (GRCm39)	T74R	probably damaging	Het
Notch2	T	C	3: 98,053,637 (GRCm39)	M2100T	probably benign	Het
Parp1	A	G	1: 180,418,841 (GRCm39)	K667R	possibly damaging	Het
Phlda3	A	G	1: 135,694,400 (GRCm39)	T72A	probably damaging	Het
Polg	T	C	7: 79,105,270 (GRCm39)	Q758R	probably benign	Het
Polq	G	A	16: 36,868,925 (GRCm39)	R765H	probably damaging	Het
Pramel19	A	T	4: 101,798,757 (GRCm39)	M243L	probably benign	Het
Prkd1	T	C	12: 50,439,762 (GRCm39)	D355G	possibly damaging	Het
Prpf8	T	C	11: 75,382,652 (GRCm39)	Y398H	probably damaging	Het
Ripk1	T	C	13: 34,210,731 (GRCm39)	Y309H	probably damaging	Het
Rngtt	A	T	4: 33,339,032 (GRCm39)	Q279L	possibly damaging	Het
Rusf1	A	T	7: 127,875,312 (GRCm39)	F319Y	probably damaging	Het
Samd4	T	A	14: 47,315,042 (GRCm39)	V114D	probably benign	Het
Sec23ip	G	A	7: 128,380,900 (GRCm39)	E956K	probably damaging	Het
Slc5a11	A	T	7: 122,834,858 (GRCm39)	I6F	probably benign	Het
Slc6a19	A	C	13: 73,832,094 (GRCm39)	L494R	probably damaging	Het
Slc6a21	A	G	7: 44,936,713 (GRCm39)	D189G	probably damaging	Het
Slc7a1	G	T	5: 148,277,372 (GRCm39)	A381D	probably damaging	Het
Smc4	T	A	3: 68,923,980 (GRCm39)		probably null	Het
Stk19	T	C	17: 35,051,504 (GRCm39)	E17G	probably damaging	Het
Tekt5	A	C	16: 10,175,877 (GRCm39)	V556G	probably benign	Het
Tenm4	T	C	7: 96,544,070 (GRCm39)	F2029L	probably benign	Het
Thnsl1	T	C	2: 21,217,236 (GRCm39)	V330A	probably damaging	Het
Tnfrsf21	A	G	17: 43,375,910 (GRCm39)	D432G	probably damaging	Het
Tnip1	T	A	11: 54,817,616 (GRCm39)	S244C	probably benign	Het
Tnrc6c	A	T	11: 117,633,784 (GRCm39)	N1294I	possibly damaging	Het
Trpm3	A	G	19: 22,965,381 (GRCm39)	I1625M	probably benign	Het
Ttn	A	T	2: 76,575,773 (GRCm39)	V25040E	probably damaging	Het
Vwa5a	A	G	9: 38,633,853 (GRCm39)	N19D	possibly damaging	Het
Washc2	A	T	6: 116,197,517 (GRCm39)	D250V	probably damaging	Het
Xpo1	A	G	11: 23,237,401 (GRCm39)	T755A	possibly damaging	Het
Zfp462	C	T	4: 55,008,934 (GRCm39)	T300I	possibly damaging	Het
Zfp937	A	C	2: 150,080,431 (GRCm39)	T154P	probably damaging	Het
Zzef1	A	G	11: 72,778,996 (GRCm39)	D1819G	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
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
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

PCR Primer
(F):5'- AGCTGGACTCTGGATGTGAG -3'
(R):5'- ACTCTACAGTAAGTGCGGGG -3'

Sequencing Primer
(F):5'- ACTCTGGATGTGAGGAGCC -3'
(R):5'- AACGTGCCGTGGGTACTTC -3'

Posted On

2015-07-21