Mutagenetix > Incidental Mutation

Incidental Mutation 'R6129:Ankrd34a'

487557

Institutional Source

Beutler Lab

Gene Symbol

Ankrd34a

Ensembl Gene

ENSMUSG00000049097

Gene Name

ankyrin repeat domain 34A

Synonyms

Ankrd34

MMRRC Submission

044276-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R6129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96503952-96507091 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 96505274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 159 (Y159*)

Ref Sequence

ENSEMBL: ENSMUSP00000102707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058943] [ENSMUST00000062058] [ENSMUST00000091924] [ENSMUST00000145001]

AlphaFold

B2RW11

Predicted Effect

probably null
Transcript: ENSMUST00000058943
AA Change: Y159*

SMART Domains

Protein: ENSMUSP00000102707
Gene: ENSMUSG00000049097
AA Change: Y159*

Domain	Start	End	E-Value	Type
ANK	4	33	9.05e2	SMART
ANK	37	72	2.81e-4	SMART
ANK	76	106	5.84e-2	SMART
ANK	110	139	7.99e2	SMART
low complexity region	216	244	N/A	INTRINSIC
low complexity region	350	366	N/A	INTRINSIC
low complexity region	431	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062058

SMART Domains

Protein: ENSMUSP00000057623
Gene: ENSMUSG00000049288

Domain	Start	End	E-Value	Type
Pfam:LIX1	80	328	8.9e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091924

SMART Domains

Protein: ENSMUSP00000089544
Gene: ENSMUSG00000028104

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_3_Rpc31	1	217	2.8e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145001

SMART Domains

Protein: ENSMUSP00000118943
Gene: ENSMUSG00000028104

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_3_Rpc31	1	148	4.4e-31	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	A	11: 69,789,137 (GRCm39)	Y354F	probably damaging	Het
Aatk	C	T	11: 119,912,359 (GRCm39)	G29S	probably damaging	Het
Acsm2	G	A	7: 119,190,470 (GRCm39)		probably null	Het
Adgrl1	A	G	8: 84,645,616 (GRCm39)	N80D	probably damaging	Het
Bcl2l2	G	A	14: 55,122,202 (GRCm39)	V122M	possibly damaging	Het
Brms1l	A	G	12: 55,914,970 (GRCm39)	H293R	probably benign	Het
Ccn1	T	C	3: 145,354,986 (GRCm39)	I90V	possibly damaging	Het
Clec4b1	A	G	6: 123,045,461 (GRCm39)	T94A	possibly damaging	Het
Crim1	A	G	17: 78,588,738 (GRCm39)	D271G	probably benign	Het
Csmd2	G	A	4: 128,387,127 (GRCm39)	G2141S	possibly damaging	Het
Cspg4b	T	A	13: 113,505,340 (GRCm39)	Y2156*	probably null	Het
Ctnnal1	C	A	4: 56,829,573 (GRCm39)	A419S	possibly damaging	Het
Cyp27a1	G	A	1: 74,774,851 (GRCm39)	R264H	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dsc2	T	A	18: 20,178,487 (GRCm39)	T306S	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ermp1	A	T	19: 29,600,609 (GRCm39)	Y586N	possibly damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5114	C	T	7: 39,058,024 (GRCm39)	A532T	possibly damaging	Het
Gm5431	A	G	11: 48,780,418 (GRCm39)	L168P	probably damaging	Het
Hao2	T	C	3: 98,787,842 (GRCm39)	T196A	probably benign	Het
Hdac9	A	C	12: 34,337,474 (GRCm39)	L669R	probably damaging	Het
Hps5	A	G	7: 46,421,198 (GRCm39)	V755A	probably benign	Het
Jag2	G	T	12: 112,883,969 (GRCm39)	Y203*	probably null	Het
Lrrn3	G	A	12: 41,503,787 (GRCm39)	Q177*	probably null	Het
Me1	A	T	9: 86,533,009 (GRCm39)	V151E	probably damaging	Het
Mkx	A	G	18: 6,992,888 (GRCm39)	V132A	probably damaging	Het
Mycbp2	A	G	14: 103,522,836 (GRCm39)	S643P	probably benign	Het
Mysm1	C	A	4: 94,856,192 (GRCm39)	R135L	probably damaging	Het
Nup210l	T	C	3: 90,011,483 (GRCm39)	F4L	probably benign	Het
Pappa2	A	T	1: 158,542,567 (GRCm39)	C1773*	probably null	Het
Pcbp3	T	C	10: 76,599,182 (GRCm39)	E318G	probably damaging	Het
Pcdh12	T	C	18: 38,410,912 (GRCm39)	K984E	probably damaging	Het
Pcna-ps2	A	G	19: 9,261,379 (GRCm39)	N213D	possibly damaging	Het
Pde8b	G	A	13: 95,178,467 (GRCm39)	A509V	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phf7	A	G	14: 30,962,820 (GRCm39)	Y137H	probably damaging	Het
Pkd1l1	A	G	11: 8,818,543 (GRCm39)	V1315A	probably benign	Het
Plxnd1	A	G	6: 115,955,135 (GRCm39)	C571R	probably damaging	Het
Ppp1r12b	C	T	1: 134,819,990 (GRCm39)	W251*	probably null	Het
Prps1l1	A	G	12: 35,035,329 (GRCm39)	E148G	probably damaging	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Robo3	A	G	9: 37,334,589 (GRCm39)	Y592H	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rufy1	A	T	11: 50,308,075 (GRCm39)	L259Q	probably damaging	Het
Rusc2	T	C	4: 43,424,271 (GRCm39)	F1112S	probably damaging	Het
Sap130	T	C	18: 31,815,144 (GRCm39)	V622A	possibly damaging	Het
Sptbn4	C	A	7: 27,059,513 (GRCm39)	C1124F	probably damaging	Het
Stk10	T	A	11: 32,565,871 (GRCm39)	C872S	probably damaging	Het
Tex15	A	T	8: 34,064,158 (GRCm39)	N1196I	possibly damaging	Het
Tnxa	A	G	17: 35,019,262 (GRCm39)		probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zscan4b	T	A	7: 10,635,815 (GRCm39)	T171S	probably benign	Het

Other mutations in Ankrd34a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02488:Ankrd34a	APN	3	96,506,229 (GRCm39)	missense	probably benign	0.33
R0190:Ankrd34a	UTSW	3	96,505,105 (GRCm39)	missense	probably damaging	0.99
R1940:Ankrd34a	UTSW	3	96,505,992 (GRCm39)	missense	probably benign	0.28
R3779:Ankrd34a	UTSW	3	96,506,247 (GRCm39)	missense	possibly damaging	0.85
R5427:Ankrd34a	UTSW	3	96,504,837 (GRCm39)	missense	probably damaging	0.99
R5429:Ankrd34a	UTSW	3	96,504,837 (GRCm39)	missense	probably damaging	0.99
R5430:Ankrd34a	UTSW	3	96,504,837 (GRCm39)	missense	probably damaging	0.99
R6621:Ankrd34a	UTSW	3	96,505,531 (GRCm39)	missense	possibly damaging	0.91
R6891:Ankrd34a	UTSW	3	96,505,335 (GRCm39)	missense	probably benign	0.00
R6951:Ankrd34a	UTSW	3	96,505,738 (GRCm39)	missense	possibly damaging	0.77
R7085:Ankrd34a	UTSW	3	96,505,945 (GRCm39)	missense	probably benign
R7478:Ankrd34a	UTSW	3	96,505,816 (GRCm39)	missense	possibly damaging	0.65
R8257:Ankrd34a	UTSW	3	96,505,045 (GRCm39)	missense	possibly damaging	0.93
R8746:Ankrd34a	UTSW	3	96,504,791 (GRCm39)	unclassified	probably benign
R9511:Ankrd34a	UTSW	3	96,505,401 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- GACCCTTCAGTTCGAGATCACG -3'
(R):5'- CTCGGAATTGAGCCTTTTGAG -3'

Sequencing Primer
(F):5'- TCAGTTCGAGATCACGCTGGC -3'
(R):5'- TCATCAGGGGGCTTGGGAAG -3'

Posted On

2017-10-10