Mutagenetix > Incidental Mutation

Incidental Mutation 'R7609:Ankrd39'

588458

Institutional Source

Beutler Lab

Gene Symbol

Ankrd39

Ensembl Gene

ENSMUSG00000079610

Gene Name

ankyrin repeat domain 39

Synonyms

9130416N05Rik, C030004B10Rik

MMRRC Submission

045714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R7609 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36577252-36586333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36578546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 160 (R160W)

Ref Sequence

ENSEMBL: ENSMUSP00000001172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001172] [ENSMUST00000054665] [ENSMUST00000191849] [ENSMUST00000193083] [ENSMUST00000194853] [ENSMUST00000194894] [ENSMUST00000207088] [ENSMUST00000207843]

AlphaFold

Q9D2X0

Predicted Effect

probably damaging
Transcript: ENSMUST00000001172
AA Change: R160W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001172
Gene: ENSMUSG00000079610
AA Change: R160W

Domain	Start	End	E-Value	Type
ANK	30	59	8.77e2	SMART
ANK	63	92	1.08e-5	SMART
ANK	96	127	1.27e-2	SMART
ANK	129	158	5.62e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054665

SMART Domains

Protein: ENSMUSP00000061168
Gene: ENSMUSG00000067653

Domain	Start	End	E-Value	Type
coiled coil region	45	74	N/A	INTRINSIC
low complexity region	79	94	N/A	INTRINSIC
Blast:ANK	111	140	1e-9	BLAST
ANK	144	173	1.12e-3	SMART
ANK	177	206	1.4e-4	SMART
ANK	210	239	9.27e-5	SMART
ANK	243	272	7.42e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191849

SMART Domains

Protein: ENSMUSP00000142202
Gene: ENSMUSG00000109510

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	9e-9	BLAST
ANK	30	59	1.12e-3	SMART
ANK	63	92	1.4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193083

SMART Domains

Protein: ENSMUSP00000141394
Gene: ENSMUSG00000067653

Domain	Start	End	E-Value	Type
Blast:ANK	1	26	1e-8	BLAST
ANK	30	59	6.9e-6	SMART
ANK	63	92	8.9e-7	SMART
ANK	96	125	5.7e-7	SMART
ANK	129	158	4.6e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194853

SMART Domains

Protein: ENSMUSP00000141541
Gene: ENSMUSG00000067653

Domain	Start	End	E-Value	Type
coiled coil region	45	74	N/A	INTRINSIC
low complexity region	79	94	N/A	INTRINSIC
Blast:ANK	111	140	2e-9	BLAST
ANK	144	173	1.12e-3	SMART
ANK	177	206	1.4e-4	SMART
ANK	210	239	7.42e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194894

SMART Domains

Protein: ENSMUSP00000141712
Gene: ENSMUSG00000079610

Domain	Start	End	E-Value	Type
ANK	30	59	5.6e0	SMART
ANK	63	92	7.1e-8	SMART
ANK	96	127	8.2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207088

Predicted Effect

probably benign
Transcript: ENSMUST00000207843

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,896,744 (GRCm39)	Y288C	probably benign	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Agl	C	A	3: 116,600,928 (GRCm39)	R24I	possibly damaging	Het
Aldoart2	A	G	12: 55,612,833 (GRCm39)	T253A	probably benign	Het
Aspscr1	C	T	11: 120,568,348 (GRCm39)	T57M	probably damaging	Het
Baz2b	A	G	2: 59,792,817 (GRCm39)	L437S	probably benign	Het
Bcl9l	T	A	9: 44,417,044 (GRCm39)	L331Q	probably damaging	Het
Cdhr4	C	A	9: 107,874,482 (GRCm39)	P546T	probably damaging	Het
Cfap61	T	C	2: 145,954,453 (GRCm39)	C231R	unknown	Het
Cnih4	T	C	1: 180,983,467 (GRCm39)	L61P	probably damaging	Het
Dtx4	A	G	19: 12,469,645 (GRCm39)	Y161H	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ercc6	A	G	14: 32,288,318 (GRCm39)	H830R	probably benign	Het
Exoc7	T	C	11: 116,180,085 (GRCm39)	N673S	possibly damaging	Het
Gm12185	T	C	11: 48,806,850 (GRCm39)	S114G	possibly damaging	Het
Hsfy2	A	T	1: 56,676,310 (GRCm39)	F76I	probably benign	Het
Igsf9b	A	G	9: 27,257,186 (GRCm39)	D1413G	probably benign	Het
Klk1b8	G	A	7: 43,451,603 (GRCm39)	C198Y	probably damaging	Het
Lama3	G	T	18: 12,664,891 (GRCm39)		probably null	Het
Lce3f	A	T	3: 92,900,403 (GRCm39)	S75C	unknown	Het
Ldhal6b	T	C	17: 5,468,266 (GRCm39)	M223V	probably benign	Het
Magoh	T	C	4: 107,744,409 (GRCm39)	V126A	possibly damaging	Het
Mc1r	A	T	8: 124,135,032 (GRCm39)	I262F	probably damaging	Het
Mecom	A	G	3: 30,010,591 (GRCm39)	I629T	probably damaging	Het
Mkrn2os	A	G	6: 115,563,687 (GRCm39)	V116A	possibly damaging	Het
Mtcl3	A	T	10: 29,024,224 (GRCm39)	D380V	probably damaging	Het
Muc5b	T	A	7: 141,415,466 (GRCm39)	V2804D	possibly damaging	Het
Myo15a	T	C	11: 60,379,637 (GRCm39)	V279A		Het
Nhlrc2	A	G	19: 56,583,328 (GRCm39)	I600V	probably benign	Het
Nipbl	T	C	15: 8,335,356 (GRCm39)	Q2183R	probably benign	Het
Obscn	C	T	11: 58,891,125 (GRCm39)	E7136K	unknown	Het
Or10ag56	T	C	2: 87,139,853 (GRCm39)	V260A	probably benign	Het
Or5p4	T	A	7: 107,680,753 (GRCm39)	F251I	probably damaging	Het
Or8c9	A	C	9: 38,241,520 (GRCm39)	L209F	possibly damaging	Het
Or8g37	C	T	9: 39,731,583 (GRCm39)	T216I	probably benign	Het
Otop3	T	C	11: 115,230,546 (GRCm39)	I141T	possibly damaging	Het
Pde4dip	C	A	3: 97,622,881 (GRCm39)	V1443F	possibly damaging	Het
Pdgfra	T	C	5: 75,327,382 (GRCm39)	V193A	probably benign	Het
Phf3	T	C	1: 30,844,582 (GRCm39)	Y1459C	probably benign	Het
Pias4	A	T	10: 80,993,860 (GRCm39)		probably null	Het
Plcg2	A	G	8: 118,284,852 (GRCm39)	N159S	probably benign	Het
Plekha7	T	C	7: 115,763,681 (GRCm39)	D307G	probably benign	Het
Ptprd	T	C	4: 75,990,240 (GRCm39)	K491E	probably benign	Het
Rbpjl	A	T	2: 164,247,734 (GRCm39)	R62S	probably benign	Het
Rgs11	T	C	17: 26,426,415 (GRCm39)	S245P	probably damaging	Het
Ripor3	G	A	2: 167,826,490 (GRCm39)	A685V	possibly damaging	Het
Rnase9	G	A	14: 51,276,940 (GRCm39)	P13S	possibly damaging	Het
Saxo5	A	T	8: 3,526,057 (GRCm39)	H70L	probably benign	Het
Scin	C	T	12: 40,174,588 (GRCm39)	C165Y	probably damaging	Het
Senp7	T	C	16: 55,932,000 (GRCm39)	W100R	probably benign	Het
Slc26a2	T	C	18: 61,331,532 (GRCm39)	D633G	probably benign	Het
Slc4a4	C	T	5: 89,283,545 (GRCm39)	P446S	probably damaging	Het
Spag17	T	A	3: 100,002,911 (GRCm39)	C1878*	probably null	Het
Ssc5d	A	G	7: 4,930,575 (GRCm39)	E129G	possibly damaging	Het
Supt6	T	C	11: 78,117,777 (GRCm39)	N480D	probably benign	Het
Tbk1	A	G	10: 121,388,406 (GRCm39)	L590S	probably damaging	Het
Tmem63a	T	A	1: 180,780,539 (GRCm39)		probably null	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trio	A	G	15: 27,912,728 (GRCm39)	S109P	unknown	Het
Tsga10	A	T	1: 37,843,974 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,626,107 (GRCm39)	L14984*	probably null	Het
Tyr	T	C	7: 87,133,092 (GRCm39)	T325A	probably benign	Het
U2surp	A	T	9: 95,367,732 (GRCm39)		probably null	Het
Uba6	C	A	5: 86,294,934 (GRCm39)	K368N	probably benign	Het
Upb1	A	G	10: 75,272,035 (GRCm39)	T283A	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,455 (GRCm39)	Y137H	probably damaging	Het
Wdtc1	T	C	4: 133,023,748 (GRCm39)	K541R	probably damaging	Het
Wrn	A	G	8: 33,800,741 (GRCm39)	I624T	possibly damaging	Het
Zfp804b	T	A	5: 6,820,066 (GRCm39)	D999V	possibly damaging	Het
Zmym4	T	A	4: 126,819,588 (GRCm39)	H105L	probably benign	Het

Other mutations in Ankrd39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Ankrd39	APN	1	36,581,142 (GRCm39)	missense	probably damaging	0.98
R1637:Ankrd39	UTSW	1	36,578,573 (GRCm39)	nonsense	probably null
R4249:Ankrd39	UTSW	1	36,586,236 (GRCm39)	missense	probably benign	0.00
R5548:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5551:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5552:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5553:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5554:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5591:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R5594:Ankrd39	UTSW	1	36,581,062 (GRCm39)	missense	probably damaging	1.00
R7974:Ankrd39	UTSW	1	36,585,999 (GRCm39)	unclassified	probably benign
R8973:Ankrd39	UTSW	1	36,578,439 (GRCm39)	utr 3 prime	probably benign
R9095:Ankrd39	UTSW	1	36,586,241 (GRCm39)	missense	probably benign	0.40
Z1176:Ankrd39	UTSW	1	36,581,086 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCAGACTCACAAGCCTTCAG -3'
(R):5'- AAAGTGCAGGTACCAGCTTGG -3'

Sequencing Primer
(F):5'- GCTCTTCTGGGCAATCTGGC -3'
(R):5'- AGGGTCACGAGGACATTT -3'

Posted On

2019-10-24