Mutagenetix > Incidental Mutation

Incidental Mutation 'R5977:Anks6'

481173

Institutional Source

Beutler Lab

Gene Symbol

Anks6

Ensembl Gene

ENSMUSG00000066191

Gene Name

ankyrin repeat and sterile alpha motif domain containing 6

Synonyms

SamCystin, 2210417J20Rik, Samd6, b2b1801.1Clo, LOC269533

MMRRC Submission

044159-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5977 (G1)

Quality Score

122.008

Status

Validated

Chromosome

Chromosomal Location

47015669-47057427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47035748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 588 (A588S)

Ref Sequence

ENSEMBL: ENSMUSP00000103376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084616] [ENSMUST00000107747] [ENSMUST00000229609]

AlphaFold

Q6GQX6

Predicted Effect

probably benign
Transcript: ENSMUST00000084616

SMART Domains

Protein: ENSMUSP00000081665
Gene: ENSMUSG00000066191

Domain	Start	End	E-Value	Type
ANK	8	37	2.39e2	SMART
ANK	68	97	5.62e-4	SMART
ANK	101	130	2.05e-6	SMART
ANK	134	163	1.9e-1	SMART
ANK	181	210	8.99e-3	SMART
ANK	215	244	7.83e-3	SMART
ANK	282	312	5.87e2	SMART
ANK	316	345	1.22e-4	SMART
ANK	350	379	3.57e-6	SMART
ANK	383	414	1.23e3	SMART
low complexity region	539	575	N/A	INTRINSIC
low complexity region	619	673	N/A	INTRINSIC
SAM	700	766	2.73e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107747
AA Change: A588S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103376
Gene: ENSMUSG00000066191
AA Change: A588S

Domain	Start	End	E-Value	Type
ANK	8	37	2.39e2	SMART
ANK	68	97	5.62e-4	SMART
ANK	101	130	2.05e-6	SMART
ANK	134	163	1.9e-1	SMART
ANK	181	210	8.99e-3	SMART
ANK	215	244	7.83e-3	SMART
ANK	282	312	5.87e2	SMART
ANK	316	345	1.22e-4	SMART
ANK	350	379	3.57e-6	SMART
ANK	383	414	1.23e3	SMART
low complexity region	607	643	N/A	INTRINSIC
low complexity region	687	741	N/A	INTRINSIC
low complexity region	748	768	N/A	INTRINSIC
Blast:SAM	769	796	1e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154664

Predicted Effect

probably benign
Transcript: ENSMUST00000229609
AA Change: A588S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart defects including TGA, DORV and septal defects associated with heterotaxy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,451,106 (GRCm39)	R446S	probably damaging	Het
2900092C05Rik	A	T	7: 12,288,664 (GRCm39)	H159L	probably benign	Het
4933405O20Rik	G	A	7: 50,249,838 (GRCm39)	V291I	probably damaging	Het
A2ml1	A	G	6: 128,558,085 (GRCm39)	Y24H	probably damaging	Het
Adgrv1	C	T	13: 81,583,678 (GRCm39)		probably null	Het
Ankrd52	C	T	10: 128,218,566 (GRCm39)	H351Y	probably damaging	Het
Arl15	T	G	13: 114,070,645 (GRCm39)	V80G	probably damaging	Het
Atp8a1	A	G	5: 67,904,628 (GRCm39)	I532T	possibly damaging	Het
Birc6	T	C	17: 74,910,031 (GRCm39)	C1475R	probably damaging	Het
Carmil1	C	T	13: 24,253,719 (GRCm39)	R394Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,359,697 (GRCm39)	I254T	probably damaging	Het
Cemip2	A	G	19: 21,803,447 (GRCm39)	T827A	probably benign	Het
Col6a3	A	G	1: 90,749,571 (GRCm39)	V421A	possibly damaging	Het
Cped1	T	C	6: 22,254,607 (GRCm39)	V1000A	probably damaging	Het
Cr1l	A	T	1: 194,797,076 (GRCm39)	Y282*	probably null	Het
Cryl1	G	T	14: 57,620,236 (GRCm39)	T43K	probably benign	Het
Csmd2	C	T	4: 127,952,827 (GRCm39)	P92L	probably damaging	Het
Ddx60	G	A	8: 62,474,444 (GRCm39)		probably null	Het
Dhrs7b	C	T	11: 60,743,328 (GRCm39)	R187*	probably null	Het
Dmtf1	T	C	5: 9,190,451 (GRCm39)	T88A	probably damaging	Het
Dnah2	T	C	11: 69,411,707 (GRCm39)	E305G	possibly damaging	Het
Dscaml1	A	C	9: 45,632,596 (GRCm39)	N1154T	probably benign	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Egflam	T	A	15: 7,347,726 (GRCm39)	Y68F	possibly damaging	Het
Gcm2	A	G	13: 41,256,603 (GRCm39)	V382A	probably damaging	Het
Gm18358	A	G	7: 84,739,756 (GRCm39)		noncoding transcript	Het
Gm3443	T	G	19: 21,534,960 (GRCm39)	I75S	probably benign	Het
Gpr182	C	A	10: 127,586,748 (GRCm39)	V68F	possibly damaging	Het
Herc1	T	A	9: 66,340,604 (GRCm39)	M1651K	possibly damaging	Het
Hey1	A	T	3: 8,731,418 (GRCm39)		probably null	Het
Ighv1-43	A	C	12: 114,909,829 (GRCm39)	V31G	probably benign	Het
Il17rc	T	C	6: 113,459,692 (GRCm39)	V450A	probably damaging	Het
Kbtbd4	T	G	2: 90,736,487 (GRCm39)	V166G	probably benign	Het
Marveld2	T	C	13: 100,748,197 (GRCm39)	N294S	possibly damaging	Het
Mtdh	A	G	15: 34,099,720 (GRCm39)	K61E	probably damaging	Het
Muc5ac	T	C	7: 141,350,104 (GRCm39)	S616P	possibly damaging	Het
Myh15	T	C	16: 48,973,866 (GRCm39)	L1292P	probably damaging	Het
Nek8	C	T	11: 78,058,651 (GRCm39)	V550M	probably benign	Het
Nup155	T	A	15: 8,159,721 (GRCm39)		probably null	Het
Or2y17	G	A	11: 49,231,592 (GRCm39)	V78M	probably damaging	Het
Or7c70	A	T	10: 78,683,572 (GRCm39)	M59K	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	A	12: 83,831,143 (GRCm39)	W1099*	probably null	Het
Pcdhb17	A	G	18: 37,618,720 (GRCm39)	Y170C	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Prss39	T	G	1: 34,541,783 (GRCm39)	C287G	probably damaging	Het
Pyroxd2	A	G	19: 42,723,911 (GRCm39)	V338A	probably damaging	Het
Rab19	T	A	6: 39,360,860 (GRCm39)	F3I	probably benign	Het
Relt	A	G	7: 100,512,355 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 109,977,193 (GRCm39)	H647L	probably benign	Het
Scube1	C	T	15: 83,513,689 (GRCm39)	C327Y	probably damaging	Het
Sec14l4	A	C	11: 3,990,055 (GRCm39)	Q118P	possibly damaging	Het
Shisa9	C	G	16: 12,085,292 (GRCm39)	D300E	probably benign	Het
Smg1	A	G	7: 117,740,580 (GRCm39)		probably benign	Het
Sncaip	A	G	18: 53,002,393 (GRCm39)	T305A	probably benign	Het
Sorcs3	T	C	19: 48,784,889 (GRCm39)	V1104A	probably damaging	Het
Ugt1a6b	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc119b	A	G	5: 115,268,612 (GRCm39)	V91A	probably benign	Het
Uvssa	A	G	5: 33,547,204 (GRCm39)	K257E	probably damaging	Het
Vmn1r199	A	C	13: 22,567,416 (GRCm39)	M237L	probably benign	Het
Vmn1r69	G	A	7: 10,314,417 (GRCm39)	R26W	probably damaging	Het
Vmn2r54	A	G	7: 12,366,143 (GRCm39)	F264L	probably damaging	Het
Vmn2r7	C	T	3: 64,623,464 (GRCm39)	W285*	probably null	Het
Vmn2r78	T	A	7: 86,569,541 (GRCm39)	S145T	possibly damaging	Het
Vmn2r78	T	A	7: 86,604,115 (GRCm39)	N764K	probably benign	Het
Wdr5b	T	G	16: 35,862,374 (GRCm39)	H164Q	probably damaging	Het
Zcchc7	G	A	4: 44,894,982 (GRCm39)	V236I	possibly damaging	Het
Zfp729b	G	A	13: 67,739,740 (GRCm39)	R842C	probably benign	Het

Other mutations in Anks6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Anks6	APN	4	47,046,054 (GRCm39)	missense	probably damaging	0.98
IGL01886:Anks6	APN	4	47,044,850 (GRCm39)	missense	probably damaging	1.00
IGL02903:Anks6	APN	4	47,045,004 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Anks6	UTSW	4	47,027,109 (GRCm39)	missense	probably damaging	1.00
R0632:Anks6	UTSW	4	47,033,167 (GRCm39)	missense	possibly damaging	0.95
R1220:Anks6	UTSW	4	47,025,767 (GRCm39)	splice site	probably benign
R1398:Anks6	UTSW	4	47,044,926 (GRCm39)	missense	possibly damaging	0.75
R1479:Anks6	UTSW	4	47,044,874 (GRCm39)	missense	probably damaging	1.00
R1519:Anks6	UTSW	4	47,027,152 (GRCm39)	missense	probably damaging	0.99
R1713:Anks6	UTSW	4	47,039,726 (GRCm39)	missense	probably benign	0.00
R1781:Anks6	UTSW	4	47,043,639 (GRCm39)	missense	possibly damaging	0.87
R1853:Anks6	UTSW	4	47,049,387 (GRCm39)	missense	probably benign	0.00
R2364:Anks6	UTSW	4	47,027,248 (GRCm39)	missense	possibly damaging	0.93
R3790:Anks6	UTSW	4	47,049,212 (GRCm39)	missense	probably damaging	0.97
R4432:Anks6	UTSW	4	47,044,905 (GRCm39)	nonsense	probably null
R4700:Anks6	UTSW	4	47,033,127 (GRCm39)	missense	possibly damaging	0.86
R4847:Anks6	UTSW	4	47,033,266 (GRCm39)	missense	probably benign
R4876:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4877:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4878:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4879:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4961:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4962:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4968:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4970:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R4971:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R5092:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R5113:Anks6	UTSW	4	47,030,795 (GRCm39)	missense	probably damaging	1.00
R5389:Anks6	UTSW	4	47,038,900 (GRCm39)	splice site	probably benign
R5569:Anks6	UTSW	4	47,045,007 (GRCm39)	missense	probably damaging	1.00
R5857:Anks6	UTSW	4	47,039,736 (GRCm39)	missense	possibly damaging	0.92
R5978:Anks6	UTSW	4	47,049,252 (GRCm39)	missense	probably damaging	1.00
R6933:Anks6	UTSW	4	47,049,164 (GRCm39)	missense	probably benign	0.25
R7175:Anks6	UTSW	4	47,046,268 (GRCm39)	splice site	probably null
R7454:Anks6	UTSW	4	47,038,919 (GRCm39)	missense	unknown
R7874:Anks6	UTSW	4	47,049,275 (GRCm39)	missense	unknown
R8146:Anks6	UTSW	4	47,043,605 (GRCm39)	missense	unknown
R8437:Anks6	UTSW	4	47,030,705 (GRCm39)	missense	probably benign	0.00
R9454:Anks6	UTSW	4	47,016,789 (GRCm39)	missense	possibly damaging	0.86
R9462:Anks6	UTSW	4	47,033,142 (GRCm39)	missense	unknown
R9567:Anks6	UTSW	4	47,044,880 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGAGTACATGCTCACACCGTG -3'
(R):5'- TTCCAGGGCCCATCTAATCCTG -3'

Sequencing Primer
(F):5'- AGAAGCCAGAGGTCCCTG -3'
(R):5'- ATCTTTTTCAGCTGCGAAACGG -3'

Posted On

2017-06-26