Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Klf10'

481028

Institutional Source

Beutler Lab

Gene Symbol

Klf10

Ensembl Gene

ENSMUSG00000037465

Gene Name

Kruppel-like factor 10

Synonyms

Tieg1, mGIF, Egral, Gdnfif

MMRRC Submission

044173-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38291463-38300706 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 38296041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 420 (R420L)

Ref Sequence

ENSEMBL: ENSMUSP00000154702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074043] [ENSMUST00000226363] [ENSMUST00000227920] [ENSMUST00000228416] [ENSMUST00000228732] [ENSMUST00000228772]

AlphaFold

O89091

Predicted Effect

probably damaging
Transcript: ENSMUST00000074043
AA Change: R435L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073690
Gene: ENSMUSG00000037465
AA Change: R435L

Domain	Start	End	E-Value	Type
low complexity region	134	149	N/A	INTRINSIC
low complexity region	285	298	N/A	INTRINSIC
low complexity region	316	336	N/A	INTRINSIC
ZnF_C2H2	368	392	1.56e-2	SMART
ZnF_C2H2	398	422	5.99e-4	SMART
ZnF_C2H2	428	450	3.63e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000226363
AA Change: R420L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000227920

Predicted Effect

probably benign
Transcript: ENSMUST00000228416

Predicted Effect

probably benign
Transcript: ENSMUST00000228732

Predicted Effect

probably benign
Transcript: ENSMUST00000228772

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous mutants display increased osteoblast formation and impaired osteoblast function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,670,903	H1118L	probably benign	Het
Abca8b	A	G	11: 109,949,766		probably null	Het
Abcb5	A	T	12: 118,965,260		probably null	Het
Adcy6	A	T	15: 98,593,664	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,429,070	C312S	probably damaging	Het
Ano8	C	T	8: 71,484,834	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,881,376	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,496,961	L195P	probably damaging	Het
Cfap54	A	G	10: 93,039,081	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,995,820		probably benign	Het
Cyp4x1	T	C	4: 115,121,945	I152V	probably benign	Het
Dglucy	G	A	12: 100,842,700	R219Q	probably benign	Het
Disp3	G	T	4: 148,254,284	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,501,153	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,478,496	I105N	probably damaging	Het
Eepd1	C	T	9: 25,603,453	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,295	S155C	probably benign	Het
Gm10134	A	T	2: 28,506,246	E51V	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golga7	T	C	8: 23,250,265	E83G	probably benign	Het
Gpr12	T	C	5: 146,583,431	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,164,392	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,332,300	S3282P	unknown	Het
Ift74	C	A	4: 94,691,724	T543K	possibly damaging	Het
Krt77	T	A	15: 101,862,855	I338F	probably damaging	Het
Limch1	A	T	5: 66,974,622	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,541,496	H270L	probably benign	Het
Myrf	A	T	19: 10,219,117	L504Q	probably null	Het
Nckipsd	A	G	9: 108,813,977	Q366R	probably benign	Het
Npy5r	A	T	8: 66,682,099	V14D	probably benign	Het
Nrap	T	A	19: 56,351,599	R830*	probably null	Het
Ogfrl1	A	T	1: 23,378,989	Y103N	probably damaging	Het
Olfr978	A	T	9: 39,994,223	R138*	probably null	Het
P2rx4	T	A	5: 122,725,079	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,773,894	T71S	probably benign	Het
Paip2b	C	A	6: 83,808,885	S121I	probably damaging	Het
Pofut1	C	T	2: 153,261,229	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,210,992	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,850,336	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,674,156		probably null	Het
Psd3	C	T	8: 67,719,968	A894T	probably damaging	Het
Pygm	A	T	19: 6,398,043		probably null	Het
Pzp	A	T	6: 128,491,597	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,361,453	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,850,160	F575L	probably benign	Het
Rassf6	A	G	5: 90,617,768	L28S	probably damaging	Het
Rbp3	G	T	14: 33,954,900	K268N	probably damaging	Het
Rela	C	T	19: 5,647,064	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,496,910	S102R	probably damaging	Het
Scarf2	A	G	16: 17,806,379	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,587,483	I241T	probably damaging	Het
Sept7	T	C	9: 25,288,198	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,407,570	F191L	probably damaging	Het
Siglec15	C	A	18: 78,047,375	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,397,681	T520A	probably benign	Het
Slc26a11	C	A	11: 119,379,912	F553L	probably benign	Het
Smchd1	G	A	17: 71,365,409	P1596S	possibly damaging	Het
Taar7b	A	G	10: 24,000,348	H137R	probably damaging	Het
Thap12	T	A	7: 98,716,030	C468*	probably null	Het
Timp4	C	T	6: 115,247,354	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,511,266	K48E	probably damaging	Het
Trmt10a	T	A	3: 138,156,714	I255N	probably damaging	Het
Ttll10	T	C	4: 156,048,732		probably null	Het
Ube4b	A	G	4: 149,372,932	Y283H	probably damaging	Het
Ucp1	G	T	8: 83,293,938	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596		probably benign	Het
Vps13b	T	C	15: 35,875,772	S2768P	probably damaging	Het
Zcchc6	T	G	13: 59,789,209	Y806S	probably damaging	Het
Zfp101	T	A	17: 33,380,962	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464	V2527M	possibly damaging	Het
Zfp503	T	A	14: 21,985,562	T429S	possibly damaging	Het

Other mutations in Klf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Klf10	APN	15	38297284	missense	probably benign	0.35
IGL02168:Klf10	APN	15	38296841	missense	probably damaging	1.00
IGL02444:Klf10	APN	15	38297824	missense	probably damaging	1.00
R0360:Klf10	UTSW	15	38296846	missense	probably benign
R1544:Klf10	UTSW	15	38296786	missense	probably damaging	1.00
R1961:Klf10	UTSW	15	38295996	missense	probably damaging	0.99
R2301:Klf10	UTSW	15	38297082	missense	possibly damaging	0.83
R2517:Klf10	UTSW	15	38297113	missense	probably benign	0.26
R5217:Klf10	UTSW	15	38296087	missense	probably damaging	1.00
R5498:Klf10	UTSW	15	38296039	missense	probably damaging	1.00
R6086:Klf10	UTSW	15	38296937	missense	probably benign	0.02
R7386:Klf10	UTSW	15	38296949	missense	possibly damaging	0.68
R7474:Klf10	UTSW	15	38297202	missense	probably benign	0.05
R7579:Klf10	UTSW	15	38297038	missense	probably benign	0.02
R7617:Klf10	UTSW	15	38296836	missense	probably damaging	0.97
R9269:Klf10	UTSW	15	38297758	missense	probably damaging	1.00
R9459:Klf10	UTSW	15	38295927	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTCCTGACTCTGACCAAAG -3'
(R):5'- CTGTGGACACAAATGCAAGG -3'

Sequencing Primer
(F):5'- GACTCTGACCAAAGTTTATTCTGCG -3'
(R):5'- GTAGACCAGGCTGATCTTGAACTC -3'

Posted On

2017-06-26