Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Grhl1'

30639

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

038579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24622282-24667390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24631514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 156 (S156P)

Ref Sequence

ENSEMBL: ENSMUSP00000082689 (fasta)

Gene Model

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

AlphaFold

Q921D9

Predicted Effect

probably benign
Transcript: ENSMUST00000020985
AA Change: S74P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: S74P

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: S156P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: S156P

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

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 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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 137,879,343 (GRCm39)	L235Q	probably damaging	Het
Aadacl4fm4	A	T	4: 144,412,790 (GRCm39)	M50K	possibly damaging	Het
Adam6b	T	A	12: 113,454,275 (GRCm39)	V364D	probably benign	Het
Akap13	T	C	7: 75,259,677 (GRCm39)	L767P	probably benign	Het
Akap13	T	A	7: 75,380,248 (GRCm39)	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,496,203 (GRCm39)	V69A	probably benign	Het
Ankmy1	C	T	1: 92,823,912 (GRCm39)	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,337,478 (GRCm39)	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,338,169 (GRCm39)	R280C	probably damaging	Het
Bbs10	T	A	10: 111,135,913 (GRCm39)	I342N	probably damaging	Het
Calhm2	T	C	19: 47,121,389 (GRCm39)	D260G	possibly damaging	Het
Camk2a	A	G	18: 61,091,310 (GRCm39)	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,524,543 (GRCm39)	M270L	probably benign	Het
Cdc16	A	G	8: 13,829,264 (GRCm39)	T517A	probably benign	Het
Ces1g	T	C	8: 94,057,821 (GRCm39)	H160R	probably benign	Het
Chst4	T	C	8: 110,757,026 (GRCm39)	N196S	probably damaging	Het
Ciz1	A	T	2: 32,257,479 (GRCm39)	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 86,909,093 (GRCm39)	V57I	probably damaging	Het
Cyth3	A	G	5: 143,670,181 (GRCm39)		probably benign	Het
Def6	A	G	17: 28,439,154 (GRCm39)	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,916,681 (GRCm39)	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,672,804 (GRCm39)	D825A	probably damaging	Het
Eif3m	T	C	2: 104,835,345 (GRCm39)	T242A	probably benign	Het
Emilin3	A	G	2: 160,751,737 (GRCm39)	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700 (GRCm39)		probably null	Het
Fbxo45	A	T	16: 32,057,223 (GRCm39)	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,223,161 (GRCm39)	M836L	possibly damaging	Het
Fut4	C	A	9: 14,662,506 (GRCm39)	V263F	probably damaging	Het
Ggt1	C	T	10: 75,415,104 (GRCm39)	T206M	probably benign	Het
Gls	T	C	1: 52,227,858 (GRCm39)	R79G	probably damaging	Het
Ipo8	C	T	6: 148,676,540 (GRCm39)	S983N	probably benign	Het
Kcna7	C	T	7: 45,058,868 (GRCm39)	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,075,916 (GRCm39)	L40Q	probably damaging	Het
Matn1	A	T	4: 130,677,417 (GRCm39)	S209C	probably damaging	Het
Mcc	A	G	18: 44,608,289 (GRCm39)	I501T	probably benign	Het
Mdp1	A	T	14: 55,896,832 (GRCm39)	F104L	probably damaging	Het
Mib2	A	T	4: 155,740,745 (GRCm39)	N626K	probably damaging	Het
Mrgprh	T	C	17: 13,095,843 (GRCm39)	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,774,386 (GRCm39)		noncoding transcript	Het
Myh15	A	G	16: 49,003,322 (GRCm39)	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,711,868 (GRCm39)	P680A	probably benign	Het
Myom2	G	T	8: 15,148,419 (GRCm39)	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,012,801 (GRCm39)	N57S	probably benign	Het
Nectin3	C	T	16: 46,278,550 (GRCm39)	V282M	probably damaging	Het
Nup188	G	T	2: 30,221,000 (GRCm39)	D997Y	probably damaging	Het
Olfm3	T	C	3: 114,916,454 (GRCm39)	V462A	probably damaging	Het
Opcml	A	G	9: 28,724,694 (GRCm39)	H164R	possibly damaging	Het
Or14a259	A	T	7: 86,013,013 (GRCm39)	C177*	probably null	Het
Or4c120	A	T	2: 89,000,757 (GRCm39)	F266L	probably benign	Het
Or8u9	A	C	2: 86,002,050 (GRCm39)	F37C	probably damaging	Het
Pacrg	A	G	17: 10,622,347 (GRCm39)	I209T	probably damaging	Het
Pcf11	T	C	7: 92,310,423 (GRCm39)	M522V	probably benign	Het
Pck1	T	A	2: 172,995,183 (GRCm39)	M1K	probably null	Het
Pcm1	G	T	8: 41,729,148 (GRCm39)	E707*	probably null	Het
Pcsk5	G	A	19: 17,632,213 (GRCm39)	R318W	probably damaging	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,668,262 (GRCm39)	C615*	probably null	Het
Prkdc	T	A	16: 15,609,791 (GRCm39)	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,357,609 (GRCm39)		probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Rad50	A	G	11: 53,541,346 (GRCm39)	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,284,668 (GRCm39)	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,656,350 (GRCm39)	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,456,453 (GRCm39)	T210S	possibly damaging	Het
Scd2	A	G	19: 44,291,479 (GRCm39)	D306G	probably damaging	Het
Sema3b	T	C	9: 107,480,117 (GRCm39)	N207S	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sipa1l2	C	A	8: 126,191,149 (GRCm39)	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,067,951 (GRCm39)	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,275,799 (GRCm39)	I461L	probably benign	Het
Slc1a6	C	A	10: 78,637,756 (GRCm39)	Y427*	probably null	Het
Slc30a4	A	T	2: 122,531,319 (GRCm39)	I231K	probably damaging	Het
Sos1	G	T	17: 80,761,192 (GRCm39)	A168D	probably damaging	Het
Spata31f1a	T	C	4: 42,851,161 (GRCm39)	I332V	probably benign	Het
Sptb	T	C	12: 76,668,145 (GRCm39)	S651G	probably benign	Het
Stk36	T	C	1: 74,672,779 (GRCm39)	L1007P	probably damaging	Het
Tek	A	T	4: 94,692,578 (GRCm39)	N229Y	probably damaging	Het
Tep1	A	G	14: 51,074,225 (GRCm39)	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,713,988 (GRCm39)	C602*	probably null	Het
Tnfrsf19	A	G	14: 61,209,485 (GRCm39)	S262P	possibly damaging	Het
Trim5	T	C	7: 103,914,891 (GRCm39)	I393V	probably benign	Het
Trpm6	A	G	19: 18,830,951 (GRCm39)	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,018,670 (GRCm39)	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,375,738 (GRCm39)	L151H	probably damaging	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Ubr1	A	T	2: 120,777,138 (GRCm39)	Y276N	probably benign	Het
Uggt1	A	G	1: 36,218,751 (GRCm39)	S59P	probably benign	Het
Unc45a	T	C	7: 79,976,092 (GRCm39)	T796A	probably damaging	Het
Unc5b	C	A	10: 60,614,719 (GRCm39)	V193F	possibly damaging	Het
Upp1	G	T	11: 9,079,590 (GRCm39)	M50I	probably benign	Het
Vps18	C	T	2: 119,124,386 (GRCm39)	R438C	probably damaging	Het
Zfp715	T	C	7: 42,948,760 (GRCm39)	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,521,496 (GRCm39)	Y322H	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
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
R4709:Grhl1	UTSW	12	24,636,132 (GRCm39)	missense	possibly damaging	0.57
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'- GCCCCTCATTTCTGCTGGAGAAAAC -3'
(R):5'- TGTTGGTAAGATTACCCATGTGCCC -3'

Sequencing Primer
(F):5'- TTCTGCTGGAGAAAACAGGGTG -3'
(R):5'- GACAAACATGCCGCTGTCTTAG -3'

Posted On

2013-04-24