Mutagenetix > Incidental Mutation

Incidental Mutation 'R7478:Ankrd34a'

579594

Institutional Source

Beutler Lab

Gene Symbol

Ankrd34a

Ensembl Gene

ENSMUSG00000049097

Gene Name

ankyrin repeat domain 34A

Synonyms

Ankrd34

MMRRC Submission

045552-MU

Accession Numbers

Essential gene?

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

Stock #

R7478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96503952-96507091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96505816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 340 (L340P)

Ref Sequence

ENSEMBL: ENSMUSP00000102707 (fasta)

Gene Model

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

AlphaFold

B2RW11

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058943
AA Change: L340P

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102707
Gene: ENSMUSG00000049097
AA Change: L340P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	G	6: 29,903,266 (GRCm39)	R516G	probably damaging	Het
Ak9	T	C	10: 41,265,087 (GRCm39)	F948S		Het
Aldh3b3	A	G	19: 4,014,549 (GRCm39)	M95V	probably benign	Het
Arid1a	T	A	4: 133,412,482 (GRCm39)	R1186W	unknown	Het
Arpc4	T	A	6: 113,361,092 (GRCm39)	M95K	possibly damaging	Het
Atrnl1	A	G	19: 57,684,744 (GRCm39)	E790G	possibly damaging	Het
C130074G19Rik	T	C	1: 184,606,624 (GRCm39)	N103D	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap2	T	C	1: 136,198,678 (GRCm39)	T782A		Het
Catsperd	A	G	17: 56,971,055 (GRCm39)	I706M	probably benign	Het
Cbx2	T	C	11: 118,919,941 (GRCm39)	V502A	probably damaging	Het
Cd72	T	G	4: 43,454,515 (GRCm39)	I5L	possibly damaging	Het
Celsr3	A	G	9: 108,720,777 (GRCm39)	Y2609C	probably benign	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Efcc1	T	C	6: 87,707,972 (GRCm39)	V33A	probably damaging	Het
Eif4enif1	T	A	11: 3,177,709 (GRCm39)	L367*	probably null	Het
Eml2	T	A	7: 18,940,066 (GRCm39)	L627*	probably null	Het
F13b	A	G	1: 139,435,433 (GRCm39)	T193A	probably benign	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Ifna7	T	A	4: 88,734,913 (GRCm39)	I150N	probably damaging	Het
Man2b2	G	A	5: 36,967,657 (GRCm39)	H904Y	probably damaging	Het
Midn	A	G	10: 79,991,156 (GRCm39)	T389A	possibly damaging	Het
Myo19	A	T	11: 84,776,626 (GRCm39)	H94L	probably benign	Het
Naglu	T	C	11: 100,962,725 (GRCm39)	Y177H	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nxn	A	T	11: 76,152,378 (GRCm39)	V372E	probably damaging	Het
Obscn	G	A	11: 58,984,242 (GRCm39)	R1738C	probably damaging	Het
Pcm1	A	G	8: 41,714,410 (GRCm39)	E266G	probably benign	Het
Pkd1l1	T	C	11: 8,879,441 (GRCm39)	N920S		Het
Pkd1l3	C	A	8: 110,359,947 (GRCm39)	T944K	probably damaging	Het
Prl7d1	C	A	13: 27,894,168 (GRCm39)	E133*	probably null	Het
Qser1	G	A	2: 104,619,859 (GRCm39)	L228F	probably damaging	Het
Rasa3	A	G	8: 13,664,605 (GRCm39)	I69T	possibly damaging	Het
Rb1	A	T	14: 73,506,577 (GRCm39)	S391T	probably damaging	Het
Rnf220	T	C	4: 117,153,333 (GRCm39)	Y301C	possibly damaging	Het
Sertm1	A	G	3: 54,806,749 (GRCm39)	V92A	possibly damaging	Het
Slfn5	A	G	11: 82,851,442 (GRCm39)	K580E	probably damaging	Het
Stard4	T	C	18: 33,338,377 (GRCm39)	Y111C	unknown	Het
Tagap	C	A	17: 8,152,422 (GRCm39)	Q536K	possibly damaging	Het
Tank	T	C	2: 61,480,513 (GRCm39)	C351R	probably damaging	Het
Tarbp2	A	T	15: 102,430,169 (GRCm39)	M144L	probably benign	Het
Tdrd9	T	C	12: 111,951,476 (GRCm39)	Y89H	probably damaging	Het
Tecpr2	C	A	12: 110,934,873 (GRCm39)	T1373K	probably benign	Het
Tle1	G	A	4: 72,055,349 (GRCm39)	P434L	probably damaging	Het
Tmed5	A	G	5: 108,272,495 (GRCm39)	V201A	probably benign	Het
Ust	A	G	10: 8,266,650 (GRCm39)		probably null	Het
Vmn2r94	T	C	17: 18,477,767 (GRCm39)	T215A	probably benign	Het
Zfp273	A	T	13: 67,973,251 (GRCm39)	Q126H	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R6129:Ankrd34a	UTSW	3	96,505,274 (GRCm39)	nonsense	probably null
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
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'- TCAATGGCTTGACCCTGACC -3'
(R):5'- AGAAACCTGGTCGTGTTTGC -3'

Sequencing Primer
(F):5'- CTTTCTCGGCGTCACAG -3'
(R):5'- TGTGGTCCAGGAGCAAGGTC -3'

Posted On

2019-10-07