Mutagenetix > Incidental Mutations

Incidental Mutation 'R1280:Klhdc7a'

150998

Institutional Source

Beutler Lab

Gene Symbol

Klhdc7a

Ensembl Gene

ENSMUSG00000078234

Gene Name

kelch domain containing 7A

Synonyms

MMRRC Submission

039346-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1280 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

139960220-139968026 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139965453 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 728 (R728C)

Ref Sequence

ENSEMBL: ENSMUSP00000100648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105031]

Predicted Effect

probably benign
Transcript: ENSMUST00000105031
AA Change: R728C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000100648
Gene: ENSMUSG00000078234
AA Change: R728C

Domain	Start	End	E-Value	Type
low complexity region	21	41	N/A	INTRINSIC
low complexity region	81	93	N/A	INTRINSIC
low complexity region	339	354	N/A	INTRINSIC
Kelch	537	585	4.83e-2	SMART
Kelch	586	631	4.98e-4	SMART
low complexity region	756	769	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158669

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Atp5g3	G	T	2: 73,909,370	T42K	possibly damaging	Het
Brd2	T	C	17: 34,114,150	M60V	possibly damaging	Het
Cabp1	T	C	5: 115,175,471	N226S	probably benign	Het
Cers6	G	A	2: 69,068,689	V224I	probably benign	Het
Entpd2	C	T	2: 25,399,484	S326F	probably damaging	Het
Fez1	GACAAACA	GACA	9: 36,870,549		probably null	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Myo18b	A	G	5: 112,723,805		probably null	Het
Mzf1	A	T	7: 13,053,083	L20Q	probably damaging	Het
Neil1	T	C	9: 57,146,901	Y45C	probably damaging	Het
Olfr1368	C	T	13: 21,142,167	V297I	probably benign	Het
Rbm12	T	C	2: 156,096,829	K508E	probably damaging	Het
Socs4	A	T	14: 47,290,913	Q435L	probably benign	Het
Tdrd9	T	C	12: 112,039,408	V905A	probably damaging	Het
Tekt4	T	A	17: 25,471,887	W56R	probably damaging	Het
Ttn	A	T	2: 76,778,164	I16059N	possibly damaging	Het
Ubqln3	A	G	7: 104,142,076	V269A	possibly damaging	Het
Vps54	T	A	11: 21,277,868	I273N	possibly damaging	Het
Zfp831	A	G	2: 174,704,059	K1319R	probably benign	Het

Other mutations in Klhdc7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Klhdc7a	APN	4	139966925	missense	probably benign	0.00
IGL01588:Klhdc7a	APN	4	139966946	missense	probably damaging	0.98
IGL01593:Klhdc7a	APN	4	139966814	missense	probably damaging	1.00
IGL01719:Klhdc7a	APN	4	139966550	missense	probably damaging	1.00
IGL02333:Klhdc7a	APN	4	139967156	missense	probably benign	0.07
IGL02481:Klhdc7a	APN	4	139965810	missense	probably benign	0.25
R0153:Klhdc7a	UTSW	4	139967271	missense	possibly damaging	0.83
R0385:Klhdc7a	UTSW	4	139966705	missense	probably benign
R1456:Klhdc7a	UTSW	4	139965524	missense	possibly damaging	0.46
R1837:Klhdc7a	UTSW	4	139967070	missense	probably benign	0.31
R1838:Klhdc7a	UTSW	4	139967070	missense	probably benign	0.31
R1987:Klhdc7a	UTSW	4	139966024	nonsense	probably null
R2172:Klhdc7a	UTSW	4	139965810	missense	probably benign	0.25
R2220:Klhdc7a	UTSW	4	139965453	missense	probably benign	0.01
R3154:Klhdc7a	UTSW	4	139965713	missense	probably benign	0.20
R3155:Klhdc7a	UTSW	4	139967189	missense	probably benign	0.01
R4242:Klhdc7a	UTSW	4	139966721	missense	probably benign	0.01
R4349:Klhdc7a	UTSW	4	139966277	missense	possibly damaging	0.67
R5859:Klhdc7a	UTSW	4	139967574	missense	probably damaging	0.96
R6316:Klhdc7a	UTSW	4	139966802	missense	probably benign	0.00
R6342:Klhdc7a	UTSW	4	139967059	missense	probably benign	0.09
R6755:Klhdc7a	UTSW	4	139966475	missense	possibly damaging	0.80
R7528:Klhdc7a	UTSW	4	139967517	missense	probably damaging	1.00
R7648:Klhdc7a	UTSW	4	139965939	missense	possibly damaging	0.66
R7842:Klhdc7a	UTSW	4	139967238	missense	probably damaging	0.97
R7843:Klhdc7a	UTSW	4	139966844	missense	possibly damaging	0.87
R7925:Klhdc7a	UTSW	4	139967238	missense	probably damaging	0.97
R7926:Klhdc7a	UTSW	4	139966844	missense	possibly damaging	0.87
X0002:Klhdc7a	UTSW	4	139966364	small deletion	probably benign
Z1176:Klhdc7a	UTSW	4	139967797
Z1177:Klhdc7a	UTSW	4	139965662	missense	not run
Z1177:Klhdc7a	UTSW	4	139967000	missense	not run

Predicted Primers

PCR Primer
(F):5'- TTCTGAATCCTGATGGAGCCCAGC -3'
(R):5'- CGATACATTTGCCCTGGCACACAC -3'

Sequencing Primer
(F):5'- AGCTGAGGGACTGCTAGAC -3'
(R):5'- GATTCTCGACCCAGGAACAG -3'

Posted On

2014-01-29