Mutagenetix > Incidental Mutation

Incidental Mutation 'R5113:Ankef1'

394001

Institutional Source

Beutler Lab

Gene Symbol

Ankef1

Ensembl Gene

ENSMUSG00000074771

Gene Name

ankyrin repeat and EF-hand domain containing 1

Synonyms

Ankrd5

MMRRC Submission

042701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136374241-136397774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136394361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 590 (N590S)

Ref Sequence

ENSEMBL: ENSMUSP00000135947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028726] [ENSMUST00000121717] [ENSMUST00000123214] [ENSMUST00000149712] [ENSMUST00000180246]

AlphaFold

Q9D2J7

Predicted Effect

probably benign
Transcript: ENSMUST00000028726
AA Change: N590S

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: N590S

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121717
AA Change: N590S

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: N590S

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123214

SMART Domains

Protein: ENSMUSP00000120000
Gene: ENSMUSG00000074771

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	4e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138967

Predicted Effect

probably benign
Transcript: ENSMUST00000149712

SMART Domains

Protein: ENSMUSP00000114440
Gene: ENSMUSG00000074771

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180246
AA Change: N590S

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: N590S

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,206,821 (GRCm39)	V622A	possibly damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano3	A	T	2: 110,491,825 (GRCm39)	N867K	possibly damaging	Het
Ash1l	T	C	3: 88,973,582 (GRCm39)	V2547A	probably damaging	Het
Chil5	A	T	3: 105,925,294 (GRCm39)	V209E	possibly damaging	Het
Cltc	A	T	11: 86,613,147 (GRCm39)	C459S	probably damaging	Het
Col6a4	T	A	9: 105,944,159 (GRCm39)	D1105V	possibly damaging	Het
Cyp2c66	A	G	19: 39,151,882 (GRCm39)	D199G	probably benign	Het
Cyp4f18	A	G	8: 72,742,902 (GRCm39)		probably null	Het
Cysrt1	A	T	2: 25,129,363 (GRCm39)	C50S	possibly damaging	Het
Dapk1	A	G	13: 60,869,592 (GRCm39)	K278R	probably benign	Het
Eefsec	C	A	6: 88,258,557 (GRCm39)	S512I	probably damaging	Het
Emilin1	T	C	5: 31,077,964 (GRCm39)	F908L	possibly damaging	Het
Eml1	T	C	12: 108,503,596 (GRCm39)	V731A	possibly damaging	Het
Erc2	T	C	14: 27,374,829 (GRCm39)	S16P	probably benign	Het
Gfpt2	A	G	11: 49,714,626 (GRCm39)	R342G	probably damaging	Het
Gpr142	A	T	11: 114,695,143 (GRCm39)	Q36L	probably benign	Het
Grik5	A	G	7: 24,714,952 (GRCm39)	S681P	probably damaging	Het
Hecw1	A	T	13: 14,520,614 (GRCm39)	S208T	possibly damaging	Het
Hmgcr	G	A	13: 96,793,240 (GRCm39)	A464V	probably benign	Het
Igkv2-109	A	G	6: 68,280,069 (GRCm39)	T97A	possibly damaging	Het
Ino80	G	T	2: 119,262,426 (GRCm39)	Q687K	probably damaging	Het
Kdm4d	T	C	9: 14,375,409 (GRCm39)	N150D	probably damaging	Het
Klf4	A	G	4: 55,530,481 (GRCm39)	I210T	possibly damaging	Het
Klkb1	C	A	8: 45,723,734 (GRCm39)	Q560H	probably benign	Het
Lce1a2	A	T	3: 92,576,442 (GRCm39)	V40E	unknown	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mipol1	C	T	12: 57,543,285 (GRCm39)	T393I	probably benign	Het
Mst1	A	G	9: 107,959,446 (GRCm39)	D244G	probably damaging	Het
Nexn	G	A	3: 151,949,525 (GRCm39)	R258C	probably damaging	Het
Optc	T	C	1: 133,828,715 (GRCm39)		probably benign	Het
Or10d5	T	C	9: 39,861,221 (GRCm39)	N282S	probably damaging	Het
Or11h23	A	C	14: 50,948,371 (GRCm39)	I195L	probably benign	Het
Or6c207	A	G	10: 129,104,535 (GRCm39)	I219T	probably damaging	Het
Or7a37	A	G	10: 78,806,037 (GRCm39)	I185V	probably benign	Het
Pabpc2	C	A	18: 39,908,436 (GRCm39)	P567Q	probably benign	Het
Pierce2	T	A	9: 72,887,175 (GRCm39)	R111*	probably null	Het
Ppm1j	A	G	3: 104,691,990 (GRCm39)	H324R	possibly damaging	Het
Reg3g	A	T	6: 78,443,544 (GRCm39)		probably null	Het
Sipa1l1	C	T	12: 82,487,682 (GRCm39)	A1652V	probably benign	Het
Ski	T	C	4: 155,243,849 (GRCm39)	T554A	probably benign	Het
Slfn5	G	A	11: 82,852,522 (GRCm39)	V883M	probably benign	Het
Stradb	T	C	1: 59,030,333 (GRCm39)		probably benign	Het
Tex19.1	A	G	11: 121,038,625 (GRCm39)	T328A	probably benign	Het
Tpsab1	T	C	17: 25,564,373 (GRCm39)	N27S	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	A	T	2: 76,643,244 (GRCm39)	L13225Q	probably damaging	Het
Vmn1r28	A	G	6: 58,242,843 (GRCm39)	T229A	probably benign	Het
Wapl	A	G	14: 34,446,711 (GRCm39)	K600E	probably damaging	Het
Zfp217	T	C	2: 169,955,978 (GRCm39)		probably null	Het

Other mutations in Ankef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Ankef1	APN	2	136,394,451 (GRCm39)	missense	possibly damaging	0.87
IGL02194:Ankef1	APN	2	136,392,429 (GRCm39)	missense	probably benign	0.01
IGL02318:Ankef1	APN	2	136,386,695 (GRCm39)	missense	possibly damaging	0.48
IGL02398:Ankef1	APN	2	136,397,702 (GRCm39)	missense	probably damaging	0.98
IGL02930:Ankef1	APN	2	136,392,245 (GRCm39)	missense	possibly damaging	0.79
R1482:Ankef1	UTSW	2	136,392,078 (GRCm39)	missense	possibly damaging	0.74
R1692:Ankef1	UTSW	2	136,392,346 (GRCm39)	missense	probably benign
R2045:Ankef1	UTSW	2	136,396,658 (GRCm39)	missense	probably benign	0.00
R2074:Ankef1	UTSW	2	136,387,658 (GRCm39)	missense	possibly damaging	0.62
R4952:Ankef1	UTSW	2	136,392,449 (GRCm39)	missense	probably damaging	1.00
R5057:Ankef1	UTSW	2	136,392,280 (GRCm39)	splice site	probably null
R5743:Ankef1	UTSW	2	136,391,629 (GRCm39)	splice site	probably null
R6120:Ankef1	UTSW	2	136,392,296 (GRCm39)	missense	probably benign	0.04
R6243:Ankef1	UTSW	2	136,379,077 (GRCm39)	missense	probably damaging	0.96
R7456:Ankef1	UTSW	2	136,387,734 (GRCm39)	missense	probably benign	0.01
R7898:Ankef1	UTSW	2	136,395,618 (GRCm39)	missense	probably benign	0.05
R8421:Ankef1	UTSW	2	136,379,085 (GRCm39)	missense	probably damaging	1.00
R9054:Ankef1	UTSW	2	136,395,594 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGGGTCCAAGGTTTGAAAC -3'
(R):5'- GGGAAACAGTTTCTCTACAAGAGC -3'

Sequencing Primer
(F):5'- ACTTTGTAGACCAAGCTGGC -3'
(R):5'- TACAAGAGCAAAACCAACAGGATTTG -3'

Posted On

2016-06-15