Mutagenetix > Incidental Mutation

Incidental Mutation 'R6120:Ankef1'

485695

Institutional Source

Beutler Lab

Gene Symbol

Ankef1

Ensembl Gene

ENSMUSG00000074771

Gene Name

ankyrin repeat and EF-hand domain containing 1

Synonyms

Ankrd5

MMRRC Submission

044268-MU

Accession Numbers

Essential gene?

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

Stock #

R6120 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136374241-136397774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136392296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 495 (N495S)

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: N495S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: N495S

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: N495S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: N495S

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: N495S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: N495S

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

Meta Mutation Damage Score

0.1335

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.6%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,638,795 (GRCm39)	V398E	possibly damaging	Het
Bpifb3	G	T	2: 153,773,363 (GRCm39)	V428L	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
Ccdc178	A	G	18: 22,230,785 (GRCm39)	L362S	probably benign	Het
Ccdc33	G	A	9: 57,993,883 (GRCm39)	P88S	probably damaging	Het
Cdk14	A	T	5: 4,944,029 (GRCm39)	D385E	probably damaging	Het
Chrna4	A	G	2: 180,666,599 (GRCm39)	L613P	probably damaging	Het
Cnot3	T	A	7: 3,648,335 (GRCm39)		probably null	Het
Csf1	T	A	3: 107,661,170 (GRCm39)	I116L	probably damaging	Het
Csrp2	G	T	10: 110,775,140 (GRCm39)	A192S	probably benign	Het
Dnah9	T	C	11: 66,038,225 (GRCm39)	T104A	probably benign	Het
Eml1	C	T	12: 108,493,983 (GRCm39)	P593S	probably damaging	Het
Entpd2	T	A	2: 25,289,478 (GRCm39)	I320N	probably benign	Het
Exosc9	A	T	3: 36,608,821 (GRCm39)	N140I	probably damaging	Het
Fam186a	T	C	15: 99,838,244 (GRCm39)	T2667A	probably benign	Het
Fes	T	C	7: 80,030,615 (GRCm39)	D558G	probably damaging	Het
Fgfr2	G	T	7: 129,830,420 (GRCm39)	T186K	probably benign	Het
Fnip1	A	G	11: 54,400,826 (GRCm39)	E1075G	probably benign	Het
Gbf1	A	G	19: 46,267,760 (GRCm39)	I1203V	possibly damaging	Het
Gja1	T	A	10: 56,264,601 (GRCm39)	M320K	probably benign	Het
Gm5431	A	G	11: 48,785,608 (GRCm39)	Y256H	probably benign	Het
Gpr20	C	T	15: 73,567,853 (GRCm39)	V179M	probably damaging	Het
Greb1	T	G	12: 16,758,622 (GRCm39)	D698A	probably damaging	Het
Hook2	A	G	8: 85,724,754 (GRCm39)	E500G	probably damaging	Het
Kif13b	A	T	14: 64,989,007 (GRCm39)	N796I	probably damaging	Het
Kif1a	C	T	1: 92,952,296 (GRCm39)		probably null	Het
Lama1	T	C	17: 68,087,612 (GRCm39)		probably null	Het
Mfsd1	C	T	3: 67,501,718 (GRCm39)	Q246*	probably null	Het
Mkrn3	A	G	7: 62,069,282 (GRCm39)	S170P	probably benign	Het
Ms4a6b	A	G	19: 11,499,059 (GRCm39)	M58V	probably benign	Het
Muc4	T	C	16: 32,577,169 (GRCm39)	V2223A	unknown	Het
Mycbp2	A	T	14: 103,513,323 (GRCm39)	V811D	probably benign	Het
Or5p59	A	T	7: 107,703,340 (GRCm39)	N275Y	probably damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or9g4b	T	C	2: 85,616,685 (GRCm39)	F277L	probably damaging	Het
Pcsk2	A	G	2: 143,643,031 (GRCm39)	E436G	probably damaging	Het
Pet100	T	G	8: 3,671,764 (GRCm39)		probably null	Het
Pira2	A	G	7: 3,844,553 (GRCm39)	Y493H	probably damaging	Het
Prkdc	C	A	16: 15,557,335 (GRCm39)	R2213S	probably benign	Het
Prmt2	A	G	10: 76,045,280 (GRCm39)	I342T	possibly damaging	Het
Psmc6	A	G	14: 45,586,130 (GRCm39)	E381G	possibly damaging	Het
Rrm1	G	A	7: 102,110,063 (GRCm39)		probably null	Het
Sema3c	A	G	5: 17,932,630 (GRCm39)	D711G	probably benign	Het
Sgcb	T	C	5: 73,798,153 (GRCm39)	E103G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,848 (GRCm39)	S957P	probably damaging	Het
Slc26a2	A	G	18: 61,332,489 (GRCm39)	V314A	possibly damaging	Het
Smarca5	G	T	8: 81,438,372 (GRCm39)	H655N	probably damaging	Het
Sspo	T	A	6: 48,442,510 (GRCm39)	S2002T	probably damaging	Het
Sync	T	C	4: 129,187,544 (GRCm39)	L192P	probably damaging	Het
Ush2a	T	C	1: 188,090,800 (GRCm39)	M477T	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vcam1	A	G	3: 115,918,049 (GRCm39)	V304A	probably damaging	Het
Vmn2r115	T	A	17: 23,565,003 (GRCm39)	W297R	probably damaging	Het
Vmn2r120	T	A	17: 57,832,973 (GRCm39)	M69L	probably benign	Het
Wdr11	A	G	7: 129,226,515 (GRCm39)	D771G	probably damaging	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
R5113:Ankef1	UTSW	2	136,394,361 (GRCm39)	missense	probably benign	0.20
R5743:Ankef1	UTSW	2	136,391,629 (GRCm39)	splice site	probably null
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'- ATTGGGATCTTTCGGGCCTAAG -3'
(R):5'- CTGAAAGCATACCCCTTTTCG -3'

Sequencing Primer
(F):5'- CCAAGGAAAGGCAAGTTTGTTTTG -3'
(R):5'- CTGAAAGCATACCCCTTTTCGATAAG -3'

Posted On

2017-08-16