Mutagenetix > Incidental Mutation

Incidental Mutation 'R5991:Slc4a1ap'

482005

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

044171-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R5991 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

31684339-31714276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31691413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 403 (N403S)

Ref Sequence

ENSEMBL: ENSMUSP00000144613 (fasta)

Gene Model

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

AlphaFold

E9PX68

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114533
AA Change: N403S

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141
AA Change: N403S

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: ENSMUST00000201294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201481

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201858
AA Change: N403S

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143960
Gene: ENSMUSG00000029141
AA Change: N403S

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: ENSMUST00000201925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202214
AA Change: N403S

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141
AA Change: N403S

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: N403S

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
AA Change: N403S

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

0.0747

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,777,032 (GRCm39)	R683Q	probably damaging	Het
Adam8	T	A	7: 139,570,200 (GRCm39)	H69L	probably damaging	Het
Bbs2	G	T	8: 94,824,914 (GRCm39)	R23S	probably benign	Het
Bod1l	A	T	5: 41,974,206 (GRCm39)	C2369*	probably null	Het
Capn11	G	T	17: 45,970,278 (GRCm39)		probably null	Het
Carmil2	A	G	8: 106,418,023 (GRCm39)	Q679R	probably null	Het
Cep120	T	C	18: 53,854,870 (GRCm39)	I422V	probably benign	Het
Cnot7	A	C	8: 40,948,696 (GRCm39)		probably null	Het
Col1a1	T	C	11: 94,828,745 (GRCm39)	V29A	unknown	Het
Dnttip1	A	T	2: 164,596,100 (GRCm39)	Q115L	possibly damaging	Het
Dyrk4	A	G	6: 126,857,188 (GRCm39)	V497A	probably benign	Het
Ep300	A	G	15: 81,532,667 (GRCm39)	D1635G	unknown	Het
Ercc5	T	A	1: 44,219,990 (GRCm39)	C1087*	probably null	Het
Fap	A	T	2: 62,348,865 (GRCm39)	M517K	probably damaging	Het
Focad	C	A	4: 88,319,256 (GRCm39)	D1574E	possibly damaging	Het
Fsip2	C	T	2: 82,820,812 (GRCm39)	P5515L	probably benign	Het
Gpr158	T	C	2: 21,373,319 (GRCm39)	Y85H	probably damaging	Het
Hc	A	G	2: 34,896,117 (GRCm39)	V1222A	possibly damaging	Het
Hipk3	C	T	2: 104,268,328 (GRCm39)	M546I	probably damaging	Het
Jup	T	C	11: 100,270,395 (GRCm39)	N371D	possibly damaging	Het
Ltbp4	A	G	7: 27,008,741 (GRCm39)	Y1262H	probably damaging	Het
Lyar	A	G	5: 38,385,209 (GRCm39)	E83G	probably damaging	Het
Lyg2	C	T	1: 37,954,800 (GRCm39)		probably null	Het
Mtmr11	T	A	3: 96,075,905 (GRCm39)		probably null	Het
Myct1	A	T	10: 5,554,426 (GRCm39)	R98*	probably null	Het
Nol11	T	C	11: 107,061,971 (GRCm39)	T612A	probably benign	Het
Or2l5	T	C	16: 19,333,507 (GRCm39)	N293S	probably damaging	Het
Or4b1d	T	A	2: 89,968,578 (GRCm39)	K302*	probably null	Het
Or4c113	C	T	2: 88,885,126 (GRCm39)	V215I	probably benign	Het
Or4f61	C	T	2: 111,922,960 (GRCm39)	V29M	probably benign	Het
Or5m9	A	G	2: 85,877,254 (GRCm39)	I143V	probably benign	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Pcdhb3	T	C	18: 37,434,561 (GRCm39)	S176P	probably benign	Het
Pdcd1lg2	C	T	19: 29,431,867 (GRCm39)	R212W	probably benign	Het
Plin3	T	C	17: 56,593,576 (GRCm39)	Y46C	probably damaging	Het
Rfx7	G	A	9: 72,526,820 (GRCm39)	E1337K	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ryr1	G	T	7: 28,804,035 (GRCm39)	N584K	probably damaging	Het
Scmh1	T	C	4: 120,379,817 (GRCm39)	V544A	probably benign	Het
Sdk2	G	A	11: 113,834,080 (GRCm39)	T34M	probably damaging	Het
Serpinb9e	T	A	13: 33,443,790 (GRCm39)	L270H	probably damaging	Het
Shoc2	T	A	19: 53,991,480 (GRCm39)	N248K	probably damaging	Het
Sirpd	G	T	3: 15,385,818 (GRCm39)	A28E	probably benign	Het
Slc25a4	T	C	8: 46,662,373 (GRCm39)	Y95C	probably damaging	Het
Spink10	T	A	18: 62,790,956 (GRCm39)	W7R	probably null	Het
Ssrp1	A	G	2: 84,872,640 (GRCm39)	K426R	possibly damaging	Het
Tbc1d24	G	A	17: 24,428,043 (GRCm39)		probably benign	Het
Tead3	A	T	17: 28,553,352 (GRCm39)		probably null	Het
Timd4	A	G	11: 46,734,030 (GRCm39)	*344W	probably null	Het
Tmem181a	T	A	17: 6,339,312 (GRCm39)	W115R	probably damaging	Het
Tmem245	G	A	4: 56,916,733 (GRCm39)	T65I	probably damaging	Het
Vmn1r12	G	C	6: 57,136,640 (GRCm39)	V202L	probably damaging	Het
Vmn1r80	A	G	7: 11,927,423 (GRCm39)	T178A	probably benign	Het
Vps33b	T	A	7: 79,933,162 (GRCm39)		probably null	Het
Zmym6	T	A	4: 127,002,266 (GRCm39)		probably null	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
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'- GGCACCTTGTACATGTAACTTATTTCC -3'
(R):5'- AACGCTTTTCTCCACTAACTGG -3'

Sequencing Primer
(F):5'- GGCCTCAATCCTGTTATATAGCCAAG -3'
(R):5'- CCACTGAATTTAGACCACAAAAGTTG -3'

Posted On

2017-06-26