Mutagenetix > Incidental Mutation

Incidental Mutation 'R6161:Klhl35'

489868

Institutional Source

Beutler Lab

Gene Symbol

Klhl35

Ensembl Gene

ENSMUSG00000035298

Gene Name

kelch-like 35

Synonyms

2810406K13Rik

MMRRC Submission

044308-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R6161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99115211-99123229 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 99122544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032998] [ENSMUST00000037359] [ENSMUST00000107096] [ENSMUST00000152424]

AlphaFold

Q9CZ49

Predicted Effect

probably benign
Transcript: ENSMUST00000032998

SMART Domains

Protein: ENSMUSP00000032998
Gene: ENSMUSG00000030744

Domain	Start	End	E-Value	Type
KH	42	111	2.83e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000037359

SMART Domains

Protein: ENSMUSP00000041363
Gene: ENSMUSG00000035298

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
BTB	40	141	5.82e-17	SMART
BACK	146	248	1.21e-27	SMART
Kelch	292	341	6.32e-2	SMART
Kelch	342	385	1.18e-5	SMART
Kelch	386	432	3.01e-12	SMART
Kelch	433	480	2.23e-1	SMART
Kelch	481	522	2.71e-5	SMART
Kelch	523	570	1.39e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107096

SMART Domains

Protein: ENSMUSP00000102713
Gene: ENSMUSG00000030744

Domain	Start	End	E-Value	Type
KH	42	111	2.83e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142339

Predicted Effect

unknown
Transcript: ENSMUST00000152424
AA Change: N127D

SMART Domains

Protein: ENSMUSP00000120346
Gene: ENSMUSG00000035298
AA Change: N127D

Domain	Start	End	E-Value	Type
Pfam:Kelch_1	1	34	1.1e-8	PFAM
Pfam:Kelch_6	36	79	3.6e-8	PFAM
Pfam:Kelch_1	38	76	2.6e-7	PFAM
low complexity region	106	119	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153736

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,139,934 (GRCm39)	K1533M	probably damaging	Het
Aldh1l2	C	T	10: 83,356,202 (GRCm39)	V63I	probably benign	Het
Atr	A	G	9: 95,747,372 (GRCm39)	H218R	probably benign	Het
Atxn7l1	T	A	12: 33,408,662 (GRCm39)	S275T	possibly damaging	Het
Cacna1c	T	C	6: 119,034,263 (GRCm39)	K88R	probably damaging	Het
Ccl7	T	C	11: 81,937,412 (GRCm39)	Y49H	probably damaging	Het
Cers5	A	G	15: 99,636,544 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,071,076 (GRCm39)	E543G	probably damaging	Het
Dip2c	T	C	13: 9,697,043 (GRCm39)	V1318A	probably damaging	Het
Ercc5	A	G	1: 44,206,512 (GRCm39)	H475R	probably benign	Het
Fat3	A	G	9: 16,288,818 (GRCm39)	L235P	probably damaging	Het
Fbn1	A	T	2: 125,211,721 (GRCm39)	C892*	probably null	Het
Fbxw8	T	C	5: 118,230,740 (GRCm39)	T354A	possibly damaging	Het
Fsip2	A	C	2: 82,817,601 (GRCm39)	T4445P	possibly damaging	Het
Gpld1	A	T	13: 25,155,397 (GRCm39)	Q344L	probably benign	Het
Hao1	A	T	2: 134,347,545 (GRCm39)	D253E	probably benign	Het
Hmcn2	A	G	2: 31,246,266 (GRCm39)	D745G	probably benign	Het
Kcnt1	A	G	2: 25,793,397 (GRCm39)	T658A	probably benign	Het
Lnx2	C	T	5: 146,978,836 (GRCm39)		probably null	Het
Map3k5	T	C	10: 19,876,321 (GRCm39)	V160A	probably damaging	Het
Masp2	A	T	4: 148,698,469 (GRCm39)	I517F	possibly damaging	Het
Mc4r	A	T	18: 66,992,251 (GRCm39)	Y287*	probably null	Het
Mthfr	A	G	4: 148,126,211 (GRCm39)	D94G	probably benign	Het
Muc16	A	G	9: 18,559,114 (GRCm39)	I2393T	unknown	Het
Mybbp1a	G	T	11: 72,336,838 (GRCm39)	V557L	probably damaging	Het
Mycbp2	A	T	14: 103,536,183 (GRCm39)	W256R	probably damaging	Het
Nacad	G	A	11: 6,550,902 (GRCm39)	S763L	probably benign	Het
Nebl	A	G	2: 17,735,641 (GRCm39)	V11A	probably benign	Het
Notch1	A	T	2: 26,358,743 (GRCm39)	C1363S	probably damaging	Het
Nphp3	A	G	9: 103,909,105 (GRCm39)	N772D	probably benign	Het
Nqo2	G	A	13: 34,163,634 (GRCm39)	V98M	probably damaging	Het
Pak4	A	G	7: 28,264,692 (GRCm39)	I70T	possibly damaging	Het
Pbx2	A	G	17: 34,812,574 (GRCm39)	K2E	probably damaging	Het
Pikfyve	A	G	1: 65,255,202 (GRCm39)	T352A	probably benign	Het
Polr1g	G	A	7: 19,091,558 (GRCm39)	T183I	possibly damaging	Het
Pop1	T	C	15: 34,526,456 (GRCm39)	Y684H	probably damaging	Het
Rpa1	A	G	11: 75,205,721 (GRCm39)	V212A	probably damaging	Het
Rpap2	A	G	5: 107,768,536 (GRCm39)	E458G	probably damaging	Het
Sin3a	T	C	9: 57,002,708 (GRCm39)	V200A	possibly damaging	Het
Sla	T	C	15: 66,654,447 (GRCm39)	T280A	probably null	Het
Slc22a26	A	T	19: 7,763,812 (GRCm39)	I406K	possibly damaging	Het
Slc24a1	T	C	9: 64,844,545 (GRCm39)	N606S	unknown	Het
Slc39a10	G	A	1: 46,866,567 (GRCm39)	T443M	probably damaging	Het
Smg1	A	T	7: 117,762,553 (GRCm39)		probably benign	Het
Sra1	G	A	18: 36,803,336 (GRCm39)	A9V	probably damaging	Het
Stard4	A	G	18: 33,342,109 (GRCm39)	V47A	probably damaging	Het
Stat4	A	T	1: 52,113,836 (GRCm39)	D182V	possibly damaging	Het
Syt1	A	G	10: 108,467,668 (GRCm39)	F210L	probably damaging	Het
Ube2q1	T	A	3: 89,688,667 (GRCm39)		probably null	Het
Vmn1r159	C	T	7: 22,542,612 (GRCm39)	C140Y	possibly damaging	Het
Wnt8a	T	C	18: 34,678,599 (GRCm39)	F138L	possibly damaging	Het
Zfp623	T	A	15: 75,820,470 (GRCm39)	D475E	probably benign	Het
Zfp646	C	T	7: 127,477,897 (GRCm39)	R25W	probably damaging	Het

Other mutations in Klhl35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Klhl35	APN	7	99,120,888 (GRCm39)	splice site	probably benign
IGL03003:Klhl35	APN	7	99,119,550 (GRCm39)	missense	probably damaging	0.98
R0268:Klhl35	UTSW	7	99,120,958 (GRCm39)	missense	probably benign	0.33
R1563:Klhl35	UTSW	7	99,120,902 (GRCm39)	missense	probably damaging	1.00
R1770:Klhl35	UTSW	7	99,123,082 (GRCm39)	missense	possibly damaging	0.57
R1901:Klhl35	UTSW	7	99,119,427 (GRCm39)	missense	probably damaging	1.00
R2392:Klhl35	UTSW	7	99,123,031 (GRCm39)	missense	possibly damaging	0.72
R3810:Klhl35	UTSW	7	99,119,448 (GRCm39)	missense	probably benign	0.07
R4194:Klhl35	UTSW	7	99,123,058 (GRCm39)	splice site	probably null
R4349:Klhl35	UTSW	7	99,122,926 (GRCm39)	missense	probably benign	0.18
R4960:Klhl35	UTSW	7	99,118,275 (GRCm39)	missense	probably damaging	1.00
R5846:Klhl35	UTSW	7	99,122,094 (GRCm39)	missense	probably damaging	0.97
R6494:Klhl35	UTSW	7	99,122,106 (GRCm39)	missense	probably damaging	1.00
R7060:Klhl35	UTSW	7	99,117,665 (GRCm39)	missense	possibly damaging	0.81
R7758:Klhl35	UTSW	7	99,122,425 (GRCm39)	missense	unknown
R7762:Klhl35	UTSW	7	99,117,647 (GRCm39)	missense	probably benign	0.11
R8022:Klhl35	UTSW	7	99,122,446 (GRCm39)	missense	unknown
R8348:Klhl35	UTSW	7	99,121,062 (GRCm39)	missense	probably damaging	0.99
R8356:Klhl35	UTSW	7	99,122,129 (GRCm39)	missense	probably damaging	1.00
R8822:Klhl35	UTSW	7	99,122,055 (GRCm39)	missense	probably benign	0.00
R8927:Klhl35	UTSW	7	99,120,221 (GRCm39)	missense	probably damaging	1.00
R8928:Klhl35	UTSW	7	99,120,221 (GRCm39)	missense	probably damaging	1.00
R9072:Klhl35	UTSW	7	99,122,129 (GRCm39)	missense	probably damaging	1.00
R9202:Klhl35	UTSW	7	99,120,212 (GRCm39)	missense	probably benign	0.29
R9434:Klhl35	UTSW	7	99,119,547 (GRCm39)	missense	probably damaging	1.00
R9671:Klhl35	UTSW	7	99,117,702 (GRCm39)	missense	probably benign	0.13
X0023:Klhl35	UTSW	7	99,119,548 (GRCm39)	nonsense	probably null
X0064:Klhl35	UTSW	7	99,121,048 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGGTCTAGGGCCAAAATGTAAG -3'
(R):5'- AGCCTTCATTTGATCTTAGCCAG -3'

Sequencing Primer
(F):5'- GACATAGAATTCAAGTTCTGGGACTG -3'
(R):5'- CCTTCATTTGATCTTAGCCAGAAAGC -3'

Posted On

2017-10-10