Mutagenetix > Incidental Mutation

Incidental Mutation 'R5267:Kdf1'

401754

Institutional Source

Beutler Lab

Gene Symbol

Kdf1

Ensembl Gene

ENSMUSG00000037600

Gene Name

keratinocyte differentiation factor 1

Synonyms

1810019J16Rik

MMRRC Submission

042859-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5267 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

133246274-133258101 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 133256258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 325 (A325G)

Ref Sequence

ENSEMBL: ENSMUSP00000113590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030665] [ENSMUST00000042919] [ENSMUST00000105901] [ENSMUST00000121797] [ENSMUST00000149807] [ENSMUST00000153811]

AlphaFold

A2A9F4

Predicted Effect

probably benign
Transcript: ENSMUST00000030665

SMART Domains

Protein: ENSMUSP00000030665
Gene: ENSMUSG00000028851

Domain	Start	End	E-Value	Type
Pfam:Nudc_N	9	60	3.7e-16	PFAM
Pfam:NuDC	96	157	9.5e-23	PFAM
Pfam:CS	171	248	3.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042919
AA Change: A325G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048768
Gene: ENSMUSG00000037600
AA Change: A325G

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	34	397	5.4e-182	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105901
AA Change: A325G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101521
Gene: ENSMUSG00000037600
AA Change: A325G

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	397	4e-216	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121797
AA Change: A325G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113590
Gene: ENSMUSG00000037600
AA Change: A325G

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	375	1.4e-199	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141860

Predicted Effect

probably benign
Transcript: ENSMUST00000149807

SMART Domains

Protein: ENSMUSP00000119014
Gene: ENSMUSG00000037600

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	265	3e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153811

SMART Domains

Protein: ENSMUSP00000122170
Gene: ENSMUSG00000037600

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	173	4.6e-74	PFAM

Meta Mutation Damage Score

0.0644

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (86/88)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit neonatal lethality, short limbs, increased keratinocyte proliferation and impaired keratinocyte differentiation with epidermis overgrowth that covers ear and mouth openings and fuses the hindlimb, tail and genitals. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,374,933 (GRCm39)		probably benign	Het
Adam15	T	G	3: 89,257,206 (GRCm39)		probably benign	Het
Albfm1	T	C	5: 90,732,716 (GRCm39)	F509S	probably damaging	Het
Atp12a	T	C	14: 56,621,668 (GRCm39)	S768P	probably damaging	Het
Atp8a1	G	A	5: 67,919,887 (GRCm39)	T393I	probably damaging	Het
B4galnt4	T	G	7: 140,650,524 (GRCm39)	I3S	probably damaging	Het
Bfsp1	G	A	2: 143,668,971 (GRCm39)	T536I	probably benign	Het
Brsk1	G	T	7: 4,707,708 (GRCm39)	W284L	probably damaging	Het
Cadm3	A	T	1: 173,164,669 (GRCm39)	D370E	probably damaging	Het
Cadps2	A	G	6: 23,626,667 (GRCm39)	I207T	possibly damaging	Het
Calr4	A	C	4: 109,101,273 (GRCm39)	T52P	probably damaging	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Ckap5	T	A	2: 91,422,097 (GRCm39)	N1166K	probably null	Het
Clca4a	G	A	3: 144,659,573 (GRCm39)	T761I	probably damaging	Het
Cnksr3	A	T	10: 7,076,633 (GRCm39)		probably null	Het
Diaph3	A	G	14: 86,893,989 (GRCm39)	S7P	probably benign	Het
Dnah7a	G	A	1: 53,518,851 (GRCm39)	P2969S	probably damaging	Het
Dnai2	A	T	11: 114,631,293 (GRCm39)	T221S	probably benign	Het
Dsc2	A	G	18: 20,167,640 (GRCm39)		probably null	Het
Eif4g1	A	G	16: 20,504,283 (GRCm39)	N789S	probably damaging	Het
Fn1	C	T	1: 71,668,863 (GRCm39)	R694H	probably damaging	Het
Gm5478	G	A	15: 101,552,837 (GRCm39)	R365C	probably damaging	Het
Gm5591	A	T	7: 38,218,338 (GRCm39)	M845K	possibly damaging	Het
Gm5800	A	T	14: 51,951,294 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
H2-Q2	A	T	17: 35,562,155 (GRCm39)	Y134F	probably benign	Het
Hcfc1r1	A	G	17: 23,893,648 (GRCm39)	R76G	possibly damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Herc1	G	T	9: 66,369,091 (GRCm39)	L2928F	probably damaging	Het
Hmx3	C	T	7: 131,145,898 (GRCm39)	A202V	probably benign	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Il20ra	A	G	10: 19,625,107 (GRCm39)	T129A	probably damaging	Het
Il21	T	C	3: 37,281,946 (GRCm39)	H66R	probably benign	Het
Kcnh5	A	T	12: 75,134,190 (GRCm39)	M453K	probably damaging	Het
Klhl10	C	T	11: 100,338,047 (GRCm39)	A262V	probably benign	Het
Krt81	T	A	15: 101,357,340 (GRCm39)	N464I	probably benign	Het
Ksr1	A	T	11: 78,911,251 (GRCm39)	I698N	probably damaging	Het
Lrp2	A	G	2: 69,379,322 (GRCm39)	V130A	possibly damaging	Het
Mcm2	T	C	6: 88,874,432 (GRCm39)	T25A	probably benign	Het
Mrps18c	T	A	5: 100,950,960 (GRCm39)	Y93*	probably null	Het
Mycl	C	T	4: 122,894,289 (GRCm39)	A363V	probably damaging	Het
Mylk2	C	A	2: 152,755,469 (GRCm39)	A211E	probably benign	Het
Myo5a	G	A	9: 75,059,292 (GRCm39)	D507N	probably damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Oas1a	A	T	5: 121,037,284 (GRCm39)	C248S	probably benign	Het
Or2ag2b	T	C	7: 106,418,015 (GRCm39)	S242P	probably damaging	Het
Or4c15b	C	T	2: 89,112,574 (GRCm39)	W301*	probably null	Het
Or51aa2	T	C	7: 103,188,031 (GRCm39)	I137V	probably benign	Het
Or5b116	A	G	19: 13,422,475 (GRCm39)	Y33C	probably damaging	Het
Or5m9b	T	A	2: 85,905,882 (GRCm39)	V266E	probably benign	Het
Or5p67	A	G	7: 107,922,185 (GRCm39)	S233P	probably damaging	Het
Or8d1	G	A	9: 38,767,101 (GRCm39)	V248M	probably damaging	Het
Otub1	C	A	19: 7,177,357 (GRCm39)	G67C	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr8	A	G	1: 21,004,920 (GRCm39)	I25V	probably benign	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pde4d	T	G	13: 109,397,343 (GRCm39)		probably benign	Het
Pdzd8	C	A	19: 59,289,458 (GRCm39)	K647N	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Praf2	T	C	X: 7,596,641 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,939,575 (GRCm39)		probably benign	Het
Psg25	A	T	7: 18,258,711 (GRCm39)	Y322N	possibly damaging	Het
Rxrg	A	G	1: 167,463,335 (GRCm39)	E402G	probably damaging	Het
Selenok	T	A	14: 29,692,022 (GRCm39)	V20E	probably benign	Het
Sipa1	G	A	19: 5,705,786 (GRCm39)	T394I	probably benign	Het
Spag17	A	T	3: 99,969,264 (GRCm39)	N1247I	probably damaging	Het
Spata31d1c	A	G	13: 65,183,718 (GRCm39)	D420G	probably damaging	Het
Syk	A	G	13: 52,795,962 (GRCm39)	K519R	probably benign	Het
Syne2	A	T	12: 75,985,515 (GRCm39)	E1654D	possibly damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Thsd7a	T	A	6: 12,379,601 (GRCm39)	E941V	probably damaging	Het
Tjp1	T	C	7: 64,972,797 (GRCm39)	T548A	probably damaging	Het
Tube1	C	A	10: 39,020,552 (GRCm39)	D210E	probably benign	Het
Vmn1r183	T	A	7: 23,754,971 (GRCm39)	I258N	possibly damaging	Het
Vmn1r89	A	T	7: 12,954,140 (GRCm39)	N292I	probably damaging	Het
Vmp1	C	A	11: 86,554,377 (GRCm39)	V79L	probably benign	Het
Zfp182	T	A	X: 20,902,605 (GRCm39)	D125V	possibly damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Znrf1	G	A	8: 112,263,899 (GRCm39)	A43T	probably benign	Het

Other mutations in Kdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Kdf1	APN	4	133,255,468 (GRCm39)	missense	probably damaging	1.00
R2860:Kdf1	UTSW	4	133,255,852 (GRCm39)	missense	probably damaging	1.00
R2861:Kdf1	UTSW	4	133,255,852 (GRCm39)	missense	probably damaging	1.00
R2862:Kdf1	UTSW	4	133,255,852 (GRCm39)	missense	probably damaging	1.00
R3035:Kdf1	UTSW	4	133,255,373 (GRCm39)	missense	probably benign	0.03
R4851:Kdf1	UTSW	4	133,255,676 (GRCm39)	missense	probably damaging	1.00
R6980:Kdf1	UTSW	4	133,256,138 (GRCm39)	missense	probably damaging	1.00
R7162:Kdf1	UTSW	4	133,257,229 (GRCm39)	missense	unknown
R7779:Kdf1	UTSW	4	133,255,796 (GRCm39)	missense	probably damaging	1.00
R8554:Kdf1	UTSW	4	133,256,188 (GRCm39)	missense	probably damaging	0.97
R8881:Kdf1	UTSW	4	133,257,654 (GRCm39)	missense	possibly damaging	0.82
R8885:Kdf1	UTSW	4	133,255,505 (GRCm39)	missense	probably damaging	1.00
R9135:Kdf1	UTSW	4	133,256,140 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCGTGTTCCTGGAGAAG -3'
(R):5'- TTATTAAGGCCAGACCCGGG -3'

Sequencing Primer
(F):5'- GACCAGCAAGATCTCAGACCTG -3'
(R):5'- AGCTGCTCTGCCAGTTAGTCATAG -3'

Posted On

2016-07-06