Mutagenetix > Incidental Mutation

Incidental Mutation 'R6988:Ankrd31'

543105

Institutional Source

Beutler Lab

Gene Symbol

Ankrd31

Ensembl Gene

ENSMUSG00000109561

Gene Name

ankyrin repeat domain 31

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96748272-96910039 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96878249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 1342 (I1342K)

Ref Sequence

ENSEMBL: ENSMUSP00000146720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207464] [ENSMUST00000208758]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207464
AA Change: I1192K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208758
AA Change: I1342K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,454,579 (GRCm38)	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,411,756 (GRCm38)	V31I	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,899 (GRCm38)	D1759G	possibly damaging	Het
Adgre1	C	T	17: 57,408,445 (GRCm38)	S255F	probably benign	Het
Aff4	T	G	11: 53,398,237 (GRCm38)	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,233,758 (GRCm38)		probably benign	Het
Arhgap5	T	A	12: 52,518,125 (GRCm38)	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,916,923 (GRCm38)	V332I	probably benign	Het
AY358078	A	G	14: 51,826,187 (GRCm38)	E430G	probably damaging	Het
B4gat1	T	A	19: 5,040,434 (GRCm38)	I395N	probably benign	Het
Bub1b	T	A	2: 118,636,830 (GRCm38)	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,355,709 (GRCm38)	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885 (GRCm38)	I87N	probably damaging	Het
Ces2g	G	C	8: 104,963,908 (GRCm38)	G107A	probably benign	Het
Chpt1	A	G	10: 88,488,406 (GRCm38)	V180A	probably damaging	Het
Col2a1	T	C	15: 98,004,454 (GRCm38)	T14A	unknown	Het
Dnah7a	T	C	1: 53,582,625 (GRCm38)	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,666,213 (GRCm38)	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,643,275 (GRCm38)	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,714,210 (GRCm38)	E3993G	probably damaging	Het
Erv3	C	T	2: 131,855,966 (GRCm38)	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,609,091 (GRCm38)	F647I	probably damaging	Het
Fbrs	G	A	7: 127,479,508 (GRCm38)		probably benign	Het
Fgfr1op2	T	C	6: 146,589,965 (GRCm38)	F109L	probably damaging	Het
Fv1	T	C	4: 147,869,271 (GRCm38)	F98S	possibly damaging	Het
Gm436	A	G	4: 144,686,325 (GRCm38)	F15S	probably benign	Het
H2-M10.1	T	C	17: 36,325,592 (GRCm38)	K107E	probably benign	Het
Hspg2	A	T	4: 137,528,890 (GRCm38)	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,802,763 (GRCm38)	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,396,585 (GRCm38)	V102I	probably benign	Het
Mnt	C	A	11: 74,842,809 (GRCm38)		probably benign	Het
Mrpl15	T	C	1: 4,782,660 (GRCm38)	T112A	probably benign	Het
Ncdn	T	C	4: 126,747,189 (GRCm38)	D506G	probably benign	Het
Ogdh	C	T	11: 6,313,806 (GRCm38)	R81*	probably null	Het
Olfr791	T	A	10: 129,526,673 (GRCm38)	S149T	probably benign	Het
Olfr815	G	C	10: 129,902,409 (GRCm38)	F100L	probably damaging	Het
Pole	G	T	5: 110,329,583 (GRCm38)	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,274,007 (GRCm38)		probably benign	Het
Rabep1	A	G	11: 70,934,537 (GRCm38)	K636E	probably damaging	Het
Rasgrf2	T	A	13: 91,885,635 (GRCm38)	Y1151F	probably benign	Het
Rrad	A	G	8: 104,630,636 (GRCm38)	V93A	probably damaging	Het
Sesn3	A	T	9: 14,310,257 (GRCm38)	R118*	probably null	Het
Slc27a3	T	C	3: 90,386,290 (GRCm38)	N596S	probably benign	Het
Snx19	C	A	9: 30,428,935 (GRCm38)	D456E	probably damaging	Het
Supt20	T	C	3: 54,698,597 (GRCm38)	S35P	probably damaging	Het
Syde2	G	T	3: 146,019,809 (GRCm38)	R885L	probably benign	Het
Synm	G	A	7: 67,733,658 (GRCm38)	L1419F	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644 (GRCm38)	G40W	possibly damaging	Het
Tekt2	A	G	4: 126,323,443 (GRCm38)	F221L	probably benign	Het
Ticam1	C	T	17: 56,269,900 (GRCm38)	E732K	probably benign	Het
Tmem39b	A	G	4: 129,693,148 (GRCm38)	I90T	possibly damaging	Het
Trib2	A	G	12: 15,815,338 (GRCm38)	S79P	probably damaging	Het
Usp32	T	C	11: 85,010,143 (GRCm38)	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,984,847 (GRCm38)	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,511 (GRCm38)	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716 (GRCm38)	E1357G	probably benign	Het
Zhx3	A	G	2: 160,779,868 (GRCm38)	M793T	probably benign	Het

Other mutations in Ankrd31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6001:Ankrd31	UTSW	13	96,826,209 (GRCm38)	missense	probably damaging	1.00
R6035:Ankrd31	UTSW	13	96,832,213 (GRCm38)	missense	probably benign	0.00
R6035:Ankrd31	UTSW	13	96,832,213 (GRCm38)	missense	probably benign	0.00
R6273:Ankrd31	UTSW	13	96,851,673 (GRCm38)	missense	possibly damaging	0.61
R6291:Ankrd31	UTSW	13	96,878,238 (GRCm38)	missense	possibly damaging	0.72
R6387:Ankrd31	UTSW	13	96,830,573 (GRCm38)	missense	probably damaging	0.99
R6608:Ankrd31	UTSW	13	96,832,780 (GRCm38)	missense	probably damaging	0.99
R6680:Ankrd31	UTSW	13	96,830,609 (GRCm38)	critical splice donor site	probably null
R6738:Ankrd31	UTSW	13	96,904,127 (GRCm38)	missense	possibly damaging	0.79
R6860:Ankrd31	UTSW	13	96,831,586 (GRCm38)	missense	probably benign	0.01
R7305:Ankrd31	UTSW	13	96,878,971 (GRCm38)	missense	probably damaging	0.99
R7586:Ankrd31	UTSW	13	96,832,054 (GRCm38)	missense	possibly damaging	0.92
R7631:Ankrd31	UTSW	13	96,878,954 (GRCm38)	missense	probably benign	0.04
R7842:Ankrd31	UTSW	13	96,821,458 (GRCm38)	critical splice donor site	probably null
R7890:Ankrd31	UTSW	13	96,831,871 (GRCm38)	missense	probably benign	0.27
R7911:Ankrd31	UTSW	13	96,879,100 (GRCm38)	missense	possibly damaging	0.47
R8052:Ankrd31	UTSW	13	96,832,528 (GRCm38)	missense	probably benign	0.07
R8133:Ankrd31	UTSW	13	96,866,495 (GRCm38)	critical splice donor site	probably null
R8430:Ankrd31	UTSW	13	96,851,691 (GRCm38)	missense	possibly damaging	0.78
R8752:Ankrd31	UTSW	13	96,780,371 (GRCm38)	missense	probably damaging	0.99
R8767:Ankrd31	UTSW	13	96,832,716 (GRCm38)	missense	probably damaging	1.00
R8793:Ankrd31	UTSW	13	96,831,713 (GRCm38)	missense	probably damaging	0.97
R8903:Ankrd31	UTSW	13	96,832,821 (GRCm38)	missense	probably damaging	1.00
R8917:Ankrd31	UTSW	13	96,832,704 (GRCm38)	missense	probably damaging	0.98
R8946:Ankrd31	UTSW	13	96,909,529 (GRCm38)	makesense	probably null
R9006:Ankrd31	UTSW	13	96,830,596 (GRCm38)	missense	probably benign	0.00
R9022:Ankrd31	UTSW	13	96,826,147 (GRCm38)	missense	probably benign	0.01
R9045:Ankrd31	UTSW	13	96,831,526 (GRCm38)	nonsense	probably null
R9098:Ankrd31	UTSW	13	96,780,371 (GRCm38)	missense	probably damaging	0.97
R9115:Ankrd31	UTSW	13	96,804,265 (GRCm38)	critical splice donor site	probably null
R9202:Ankrd31	UTSW	13	96,878,875 (GRCm38)	nonsense	probably null
R9211:Ankrd31	UTSW	13	96,893,043 (GRCm38)	missense	possibly damaging	0.93
R9297:Ankrd31	UTSW	13	96,878,577 (GRCm38)	missense	probably benign	0.04
R9318:Ankrd31	UTSW	13	96,878,577 (GRCm38)	missense	probably benign	0.04
R9377:Ankrd31	UTSW	13	96,878,225 (GRCm38)	missense	probably benign	0.10
R9454:Ankrd31	UTSW	13	96,780,338 (GRCm38)	missense	possibly damaging	0.70
R9454:Ankrd31	UTSW	13	96,780,334 (GRCm38)	missense	probably damaging	0.97
R9538:Ankrd31	UTSW	13	96,872,685 (GRCm38)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- TAAAGCTGATGCGCATTAAGAG -3'
(R):5'- GAGACAATGGTATTTCTTGCATGC -3'

Sequencing Primer
(F):5'- AAGAGAGGGAGTATCTTTTATATCCC -3'
(R):5'- CTTCCGTAAGCCAGACTGACAGG -3'

Posted On

2018-11-28