Mutagenetix > Incidental Mutation

Incidental Mutation 'R8946:Ankrd31'

681321

Institutional Source

Beutler Lab

Gene Symbol

Ankrd31

Ensembl Gene

ENSMUSG00000109561

Gene Name

ankyrin repeat domain 31

Synonyms

MMRRC Submission

068784-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96748272-96910039 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 96909529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 1546 (*1546Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146751 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000207464
AA Change: *1546Q

Predicted Effect

probably damaging
Transcript: ENSMUST00000208758
AA Change: I1729T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	G	10: 4,354,368	S393G	probably damaging	Het
Ankrd28	A	G	14: 31,708,126	F862L	probably damaging	Het
Ankrd33b	T	C	15: 31,297,748	T288A	probably benign	Het
Aox1	T	C	1: 58,106,068	I1331T	possibly damaging	Het
Atp13a5	A	G	16: 29,327,783	L231P	probably damaging	Het
C1qtnf12	T	C	4: 155,966,425	F284L	probably damaging	Het
Caprin1	A	T	2: 103,778,033	H250Q	probably damaging	Het
Cd2bp2	A	C	7: 127,194,751	I122S	probably damaging	Het
Cd300lf	T	A	11: 115,133,912		probably benign	Het
Ceacam14	A	G	7: 17,814,074	I30V	probably benign	Het
Chchd1	T	A	14: 20,703,317	*56R	probably null	Het
Ckap5	A	G	2: 91,579,516	T948A	probably benign	Het
Clec12a	A	T	6: 129,363,986	N243I	possibly damaging	Het
Col11a2	A	G	17: 34,051,783	M462V	probably benign	Het
Col6a5	C	T	9: 105,945,634	E175K	unknown	Het
Csnka2ip	T	C	16: 64,480,304		probably benign	Het
D130040H23Rik	C	A	8: 69,302,381	T146N	possibly damaging	Het
Dennd5b	T	C	6: 149,041,987		probably benign	Het
E130309D02Rik	C	G	5: 143,315,040	E19Q	probably benign	Het
Fanci	A	G	7: 79,395,978	T23A	probably benign	Het
Fmnl1	T	C	11: 103,180,915	Y83H	probably damaging	Het
Galnt13	C	A	2: 54,880,063	T289N	probably benign	Het
Gcn1l1	A	G	5: 115,595,345	D1074G	probably benign	Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,662,324		probably null	Het
Gm5415	C	T	1: 32,546,604	R75Q	probably benign	Het
Gnl1	T	C	17: 35,983,587	I366T	probably benign	Het
Gtf2ird2	A	T	5: 134,216,319	Y473F	probably damaging	Het
Ikzf1	T	A	11: 11,769,485	D397E	possibly damaging	Het
Intu	C	T	3: 40,683,359	A425V	possibly damaging	Het
Jakmip1	G	A	5: 37,185,740		probably null	Het
Lif	C	A	11: 4,269,225	P168Q	possibly damaging	Het
Mrvi1	A	T	7: 110,878,140		probably null	Het
Myh11	A	C	16: 14,230,716	S576A	probably benign	Het
Neb	A	G	2: 52,151,413	V6559A	probably damaging	Het
Nphs1	A	G	7: 30,463,200	N368S	probably damaging	Het
Npsr1	G	A	9: 24,313,229	V148I	probably benign	Het
Olfr1465	A	T	19: 13,314,138	L49Q	probably damaging	Het
Olfr566	C	A	7: 102,856,518	G255*	probably null	Het
Olfr599	T	C	7: 103,338,366	F104S	probably damaging	Het
Olfr683	T	A	7: 105,143,625	I223F	probably damaging	Het
Olfr857	C	T	9: 19,713,589	T254I	probably damaging	Het
Patz1	T	C	11: 3,291,856	C415R	probably damaging	Het
Pcdha9	A	T	18: 36,998,493	N205I	possibly damaging	Het
Pcdhga12	A	T	18: 37,766,658	E181V	probably benign	Het
Pcnx	T	C	12: 81,971,384	Y1333H	probably damaging	Het
Phf7	A	T	14: 31,248,149		probably benign	Het
Pomc	T	G	12: 3,960,298	S180A	probably benign	Het
Ppp1r7	T	A	1: 93,360,814		probably null	Het
Prrc2c	A	T	1: 162,708,909		probably benign	Het
Rsf1	GGC	GGCCACGGCCGC	7: 97,579,906		probably benign	Het
Senp1	T	C	15: 98,042,901	K664E	probably damaging	Het
Skint7	A	G	4: 111,982,001	N164S	possibly damaging	Het
Smg1	C	A	7: 118,152,677	R2775M	probably null	Het
Snrnp27	C	T	6: 86,676,244	V131M	probably damaging	Het
Spire1	C	A	18: 67,496,616	R357L	probably damaging	Het
Sspo	G	A	6: 48,457,137	V959I	probably damaging	Het
St6galnac2	T	C	11: 116,677,632	H335R	probably damaging	Het
Stard13	C	T	5: 151,060,802	R623H	probably damaging	Het
Syde1	T	A	10: 78,588,849	E383V	probably damaging	Het
Taf10	A	G	7: 105,744,317	M1T	probably null	Het
Traf3ip3	A	G	1: 193,187,107	C257R	probably damaging	Het
Trpm8	G	A	1: 88,348,339		probably benign	Het
Veph1	A	G	3: 66,263,880		probably null	Het
Vmn1r169	A	T	7: 23,577,215	T11S	possibly damaging	Het
Wdhd1	A	T	14: 47,245,295	S961T	probably benign	Het
Zfp773	T	C	7: 7,132,470	T376A	possibly damaging	Het

Other mutations in Ankrd31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6001:Ankrd31	UTSW	13	96826209	missense	probably damaging	1.00
R6035:Ankrd31	UTSW	13	96832213	missense	probably benign	0.00
R6035:Ankrd31	UTSW	13	96832213	missense	probably benign	0.00
R6273:Ankrd31	UTSW	13	96851673	missense	possibly damaging	0.61
R6291:Ankrd31	UTSW	13	96878238	missense	possibly damaging	0.72
R6387:Ankrd31	UTSW	13	96830573	missense	probably damaging	0.99
R6608:Ankrd31	UTSW	13	96832780	missense	probably damaging	0.99
R6680:Ankrd31	UTSW	13	96830609	critical splice donor site	probably null
R6738:Ankrd31	UTSW	13	96904127	missense	possibly damaging	0.79
R6860:Ankrd31	UTSW	13	96831586	missense	probably benign	0.01
R6988:Ankrd31	UTSW	13	96878249	missense	probably damaging	1.00
R7305:Ankrd31	UTSW	13	96878971	missense	probably damaging	0.99
R7586:Ankrd31	UTSW	13	96832054	missense	possibly damaging	0.92
R7631:Ankrd31	UTSW	13	96878954	missense	probably benign	0.04
R7842:Ankrd31	UTSW	13	96821458	critical splice donor site	probably null
R7890:Ankrd31	UTSW	13	96831871	missense	probably benign	0.27
R7911:Ankrd31	UTSW	13	96879100	missense	possibly damaging	0.47
R8052:Ankrd31	UTSW	13	96832528	missense	probably benign	0.07
R8133:Ankrd31	UTSW	13	96866495	critical splice donor site	probably null
R8430:Ankrd31	UTSW	13	96851691	missense	possibly damaging	0.78
R8752:Ankrd31	UTSW	13	96780371	missense	probably damaging	0.99
R8767:Ankrd31	UTSW	13	96832716	missense	probably damaging	1.00
R8793:Ankrd31	UTSW	13	96831713	missense	probably damaging	0.97
R8903:Ankrd31	UTSW	13	96832821	missense	probably damaging	1.00
R8917:Ankrd31	UTSW	13	96832704	missense	probably damaging	0.98
R9006:Ankrd31	UTSW	13	96830596	missense	probably benign	0.00
R9022:Ankrd31	UTSW	13	96826147	missense	probably benign	0.01
R9045:Ankrd31	UTSW	13	96831526	nonsense	probably null
R9098:Ankrd31	UTSW	13	96780371	missense	probably damaging	0.97
R9115:Ankrd31	UTSW	13	96804265	critical splice donor site	probably null
R9202:Ankrd31	UTSW	13	96878875	nonsense	probably null
R9211:Ankrd31	UTSW	13	96893043	missense	possibly damaging	0.93
R9297:Ankrd31	UTSW	13	96878577	missense	probably benign	0.04
R9318:Ankrd31	UTSW	13	96878577	missense	probably benign	0.04
R9377:Ankrd31	UTSW	13	96878225	missense	probably benign	0.10
R9454:Ankrd31	UTSW	13	96780334	missense	probably damaging	0.97
R9454:Ankrd31	UTSW	13	96780338	missense	possibly damaging	0.70
R9538:Ankrd31	UTSW	13	96872685	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- GTCTATAGGTTTGTCTCAGGCAC -3'
(R):5'- GTGCAGGTTAAGGTATGCCC -3'

Sequencing Primer
(F):5'- GTTTGTCTCAGGCACAGAAAG -3'
(R):5'- AGGTTAAGGTATGCCCACCACG -3'

Posted On

2021-08-31