Mutagenetix > Incidental Mutation

Incidental Mutation 'R4709:Grhl1'

355502

Institutional Source

Beutler Lab

Gene Symbol

Grhl1

Ensembl Gene

ENSMUSG00000020656

Gene Name

grainyhead like transcription factor 1

Synonyms

p70 MGR, Tcfcp2l2, p61 MGR, LBP-32

MMRRC Submission

042018-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4709 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24622282-24667390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24636132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 283 (I283V)

Ref Sequence

ENSEMBL: ENSMUSP00000020985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020985] [ENSMUST00000085553]

AlphaFold

Q921D9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020985
AA Change: I283V

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: I283V

Domain	Start	End	E-Value	Type
Pfam:CP2	133	362	1.8e-87	PFAM
low complexity region	406	421	N/A	INTRINSIC
low complexity region	488	500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085553
AA Change: I365V

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: I365V

Domain	Start	End	E-Value	Type
Pfam:CP2	228	442	1.9e-82	PFAM
low complexity region	488	503	N/A	INTRINSIC
low complexity region	570	582	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223442

Meta Mutation Damage Score

0.0774

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a null allele display alopecia or sparse hair, abnormal hair follicle root sheaths, thickening of the cornified layer on the paws, and postnatal growth retardation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 36,271,069 (GRCm39)	T463M	probably damaging	Het
Arhgap35	C	T	7: 16,297,511 (GRCm39)	G518D	probably damaging	Het
Arhgdia	A	G	11: 120,470,517 (GRCm39)	Y110H	probably damaging	Het
Atp8b3	T	C	10: 80,372,604 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cbr4	T	C	8: 61,943,061 (GRCm39)	V77A	possibly damaging	Het
Cers2	A	G	3: 95,227,534 (GRCm39)	Y54C	possibly damaging	Het
Cnbp	A	T	6: 87,821,120 (GRCm39)	H145Q	probably damaging	Het
Csmd1	A	T	8: 16,073,905 (GRCm39)	I2030N	possibly damaging	Het
Csmd1	A	G	8: 16,760,522 (GRCm39)		probably null	Het
Dhodh	T	C	8: 110,328,170 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,982,495 (GRCm39)	Y2558F	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
En1	A	T	1: 120,534,872 (GRCm39)	Y387F	unknown	Het
Ephb2	C	A	4: 136,423,363 (GRCm39)	C305F	probably damaging	Het
Fryl	A	G	5: 73,238,315 (GRCm39)	V1477A	probably benign	Het
Gimap3	A	T	6: 48,742,327 (GRCm39)	L201Q	probably benign	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
Grid2ip	T	A	5: 143,374,658 (GRCm39)	L926H	probably damaging	Het
Gtf2h2	G	T	13: 100,605,523 (GRCm39)	C82*	probably null	Het
Gtf2ird1	T	C	5: 134,433,588 (GRCm39)	T280A	probably benign	Het
Gzmd	T	C	14: 56,367,698 (GRCm39)	I192V	probably null	Het
Hectd1	A	G	12: 51,834,695 (GRCm39)	V855A	possibly damaging	Het
Hey1	A	G	3: 8,730,963 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,249,243 (GRCm39)	S19P	probably benign	Het
Incenp	G	A	19: 9,853,964 (GRCm39)	R696W	unknown	Het
Itgam	T	C	7: 127,700,709 (GRCm39)	V493A	probably damaging	Het
Ldlrad3	A	G	2: 101,900,343 (GRCm39)	I53T	probably damaging	Het
Map3k7	G	T	4: 31,985,700 (GRCm39)	E208*	probably null	Het
Myh9	A	T	15: 77,671,717 (GRCm39)	I458N	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nectin3	T	A	16: 46,284,306 (GRCm39)	Y126F	possibly damaging	Het
Nek5	A	T	8: 22,573,443 (GRCm39)	N504K	probably damaging	Het
Nlrp4c	T	A	7: 6,068,424 (GRCm39)	H108Q	probably benign	Het
Or10d5	A	T	9: 39,861,165 (GRCm39)	L301M	probably damaging	Het
Or2ak4	T	C	11: 58,649,013 (GRCm39)	V174A	possibly damaging	Het
Or2at1	A	T	7: 99,416,989 (GRCm39)	I207F	probably damaging	Het
Or5h17	A	T	16: 58,820,458 (GRCm39)	T137S	probably benign	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Or9i14	T	A	19: 13,792,814 (GRCm39)	I47F	possibly damaging	Het
Parp6	T	C	9: 59,549,052 (GRCm39)	I507T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,548 (GRCm39)	T565A	probably benign	Het
Pclo	A	G	5: 14,828,572 (GRCm39)	N4676D	unknown	Het
Pdlim1	T	A	19: 40,211,180 (GRCm39)	H278L	probably benign	Het
Pfkfb3	G	A	2: 11,498,719 (GRCm39)	T46M	probably damaging	Het
Plscr2	A	G	9: 92,173,067 (GRCm39)	Y203C	probably damaging	Het
Plxna1	T	C	6: 89,311,733 (GRCm39)	D924G	possibly damaging	Het
Postn	T	A	3: 54,292,031 (GRCm39)		probably benign	Het
Ptpn23	A	G	9: 110,217,924 (GRCm39)	S674P	possibly damaging	Het
Ranbp6	C	T	19: 29,788,984 (GRCm39)	R456Q	probably benign	Het
Rbm43	A	T	2: 51,819,728 (GRCm39)	V46E	probably damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Ryr2	A	G	13: 11,731,884 (GRCm39)	I2352T	probably damaging	Het
Sbk2	G	T	7: 4,960,577 (GRCm39)	R198S	possibly damaging	Het
Scube3	G	A	17: 28,386,166 (GRCm39)		probably null	Het
Slc45a1	G	A	4: 150,722,697 (GRCm39)	P396S	probably benign	Het
Slc4a10	A	G	2: 62,087,861 (GRCm39)	D418G	probably null	Het
Smarcad1	A	G	6: 65,052,099 (GRCm39)	T411A	probably benign	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Stag1	G	T	9: 100,620,092 (GRCm39)	R65L	probably damaging	Het
Stat1	A	T	1: 52,165,680 (GRCm39)	D92V	probably damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn1r172	A	G	7: 23,359,606 (GRCm39)	T164A	probably benign	Het
Vmn2r118	A	T	17: 55,917,860 (GRCm39)	D217E	probably damaging	Het
Vmn2r26	A	G	6: 124,030,924 (GRCm39)	E553G	probably damaging	Het
Vmn2r96	T	C	17: 18,803,088 (GRCm39)	F333L	probably benign	Het
Ypel5	G	A	17: 73,155,726 (GRCm39)	R98H	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het
Zyg11a	T	C	4: 108,062,268 (GRCm39)	S176G	probably benign	Het

Other mutations in Grhl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Grhl1	APN	12	24,662,169 (GRCm39)	missense	probably damaging	1.00
IGL01104:Grhl1	APN	12	24,634,453 (GRCm39)	missense	probably damaging	1.00
IGL01335:Grhl1	APN	12	24,658,057 (GRCm39)	missense	probably damaging	1.00
IGL01660:Grhl1	APN	12	24,658,577 (GRCm39)	splice site	probably null
IGL01725:Grhl1	APN	12	24,659,747 (GRCm39)	splice site	probably benign
IGL02869:Grhl1	APN	12	24,631,490 (GRCm39)	missense	probably damaging	1.00
bandit	UTSW	12	24,628,025 (GRCm39)	missense	probably benign	0.31
cembalo	UTSW	12	24,636,151 (GRCm39)	critical splice donor site	probably null
gamba	UTSW	12	24,662,244 (GRCm39)	splice site	probably benign
Spinnet	UTSW	12	24,634,945 (GRCm39)	critical splice donor site	probably null
R0048:Grhl1	UTSW	12	24,662,150 (GRCm39)	splice site	probably benign
R0373:Grhl1	UTSW	12	24,631,514 (GRCm39)	missense	probably benign	0.00
R0432:Grhl1	UTSW	12	24,632,918 (GRCm39)	missense	probably benign	0.29
R0442:Grhl1	UTSW	12	24,662,169 (GRCm39)	missense	probably damaging	1.00
R1531:Grhl1	UTSW	12	24,632,962 (GRCm39)	critical splice donor site	probably null
R1646:Grhl1	UTSW	12	24,661,860 (GRCm39)	missense	possibly damaging	0.64
R1874:Grhl1	UTSW	12	24,636,155 (GRCm39)	splice site	probably benign
R1892:Grhl1	UTSW	12	24,634,909 (GRCm39)	missense	probably damaging	1.00
R1908:Grhl1	UTSW	12	24,658,555 (GRCm39)	missense	probably damaging	0.99
R2051:Grhl1	UTSW	12	24,636,151 (GRCm39)	critical splice donor site	probably null
R2199:Grhl1	UTSW	12	24,662,169 (GRCm39)	missense	probably damaging	1.00
R2233:Grhl1	UTSW	12	24,658,510 (GRCm39)	missense	probably damaging	0.98
R3803:Grhl1	UTSW	12	24,634,918 (GRCm39)	missense	probably damaging	1.00
R3864:Grhl1	UTSW	12	24,665,929 (GRCm39)	makesense	probably null
R4227:Grhl1	UTSW	12	24,661,850 (GRCm39)	missense	probably benign
R4682:Grhl1	UTSW	12	24,658,432 (GRCm39)	missense	probably benign	0.00
R5096:Grhl1	UTSW	12	24,653,049 (GRCm39)	missense	probably damaging	1.00
R5149:Grhl1	UTSW	12	24,662,178 (GRCm39)	small deletion	probably benign
R5580:Grhl1	UTSW	12	24,659,739 (GRCm39)	missense	probably benign	0.00
R6035:Grhl1	UTSW	12	24,658,449 (GRCm39)	missense	probably benign	0.00
R6035:Grhl1	UTSW	12	24,658,449 (GRCm39)	missense	probably benign	0.00
R6110:Grhl1	UTSW	12	24,630,746 (GRCm39)	splice site	probably null
R6351:Grhl1	UTSW	12	24,634,857 (GRCm39)	missense	probably damaging	0.98
R7018:Grhl1	UTSW	12	24,625,996 (GRCm39)	missense	possibly damaging	0.47
R8211:Grhl1	UTSW	12	24,636,151 (GRCm39)	critical splice donor site	probably null
R8723:Grhl1	UTSW	12	24,662,244 (GRCm39)	splice site	probably benign
R8898:Grhl1	UTSW	12	24,634,945 (GRCm39)	critical splice donor site	probably null
R9575:Grhl1	UTSW	12	24,636,082 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAAAATCCTCACTTAAGTCATCCG -3'
(R):5'- CACATGTGTGTTGAGGGATGAC -3'

Sequencing Primer
(F):5'- CGTAGGATGATGTAGAGAACTGAG -3'
(R):5'- TGACAAGAAGCAGCTTTGGAG -3'

Posted On

2015-10-21