Mutagenetix > Incidental Mutation

Incidental Mutation 'R0432:Grhl1'

38854

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

038634-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24622282-24667390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24632918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 153 (P153L)

Ref Sequence

ENSEMBL: ENSMUSP00000020985 (fasta)

Gene Model

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

AlphaFold

Q921D9

Predicted Effect

probably benign
Transcript: ENSMUST00000020985
AA Change: P153L

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: P153L

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: P235L

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: P235L

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

0.0635

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 36,206,708 (GRCm39)	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,884,785 (GRCm39)	C358S	probably damaging	Het
Abca8b	C	A	11: 109,870,841 (GRCm39)	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,905,551 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,611,726 (GRCm39)	I548R	probably damaging	Het
Alox12b	G	T	11: 69,060,382 (GRCm39)	G646V	probably damaging	Het
Aoah	C	T	13: 21,095,368 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Atxn1l	A	G	8: 110,458,325 (GRCm39)	W646R	probably damaging	Het
Cabp2	T	C	19: 4,134,903 (GRCm39)	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,577,716 (GRCm39)	T719I	probably damaging	Het
Camk1d	A	T	2: 5,449,946 (GRCm39)	H70Q	probably damaging	Het
Car1	T	C	3: 14,835,236 (GRCm39)	T170A	probably benign	Het
Ccdc162	T	C	10: 41,417,856 (GRCm39)	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273 (GRCm39)	C18*	probably null	Het
Cdk17	A	T	10: 93,073,652 (GRCm39)		probably benign	Het
Chd9	T	A	8: 91,721,078 (GRCm39)		probably benign	Het
Chrm5	T	A	2: 112,310,000 (GRCm39)	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,738,487 (GRCm39)	T423A	probably benign	Het
Col11a1	A	G	3: 113,999,550 (GRCm39)		probably benign	Het
Col27a1	T	C	4: 63,143,848 (GRCm39)	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,314,003 (GRCm39)	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,457,173 (GRCm39)	K180*	probably null	Het
Dmxl2	T	C	9: 54,324,235 (GRCm39)	R876G	probably benign	Het
Dnmbp	A	T	19: 43,843,296 (GRCm39)	Y432*	probably null	Het
Elapor2	G	T	5: 9,490,966 (GRCm39)	G659*	probably null	Het
Eml2	C	T	7: 18,913,456 (GRCm39)	Q125*	probably null	Het
Faap100	A	C	11: 120,264,702 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gda	A	G	19: 21,394,471 (GRCm39)	Y129H	probably damaging	Het
Gga3	G	A	11: 115,481,350 (GRCm39)	R207C	probably damaging	Het
Glg1	T	C	8: 111,909,201 (GRCm39)	I496M	probably damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10322	A	T	10: 59,452,030 (GRCm39)	H49L	possibly damaging	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Gramd2b	G	A	18: 56,607,141 (GRCm39)	C85Y	probably benign	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hdlbp	T	C	1: 93,353,054 (GRCm39)	I414V	probably damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Lipe	G	A	7: 25,097,913 (GRCm39)	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,147,079 (GRCm39)	E631G	probably damaging	Het
Lvrn	T	A	18: 47,038,366 (GRCm39)	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,042,881 (GRCm39)	H250Q	probably damaging	Het
Mup3	T	C	4: 62,003,519 (GRCm39)	T117A	probably benign	Het
Myo6	A	C	9: 80,181,256 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,983,951 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,770 (GRCm39)	N157K	probably damaging	Het
Or4p7	C	T	2: 88,222,377 (GRCm39)	T262I	probably damaging	Het
Or5an1	T	A	19: 12,261,267 (GRCm39)	M285K	probably damaging	Het
Or5m12	T	A	2: 85,734,501 (GRCm39)	N299I	probably damaging	Het
Or5w14	G	A	2: 87,541,774 (GRCm39)	H159Y	probably benign	Het
Or9m1	T	C	2: 87,733,304 (GRCm39)	T239A	probably damaging	Het
P4ha1	T	A	10: 59,184,079 (GRCm39)	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,632,588 (GRCm39)	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,672,264 (GRCm39)	I379F	probably damaging	Het
Psme3	T	A	11: 101,211,268 (GRCm39)	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045 (GRCm39)	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,218,078 (GRCm39)		probably null	Het
Rabgap1l	A	C	1: 160,549,775 (GRCm39)	I277R	probably benign	Het
Rapgef1	C	T	2: 29,569,828 (GRCm39)	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,676,730 (GRCm39)	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,389,328 (GRCm39)	C38S	probably damaging	Het
Rptor	C	T	11: 119,671,379 (GRCm39)	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332 (GRCm39)	L208S	probably damaging	Het
Slc12a4	T	C	8: 106,686,120 (GRCm39)	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,560,735 (GRCm39)	V347F	probably benign	Het
Slit1	G	A	19: 41,731,732 (GRCm39)	T39I	probably damaging	Het
Sra1	T	C	18: 36,810,556 (GRCm39)	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,132,184 (GRCm39)	L215P	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 51,104,280 (GRCm39)		probably benign	Het
Tgfbi	T	C	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem232	T	C	17: 65,563,498 (GRCm39)	M632V	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Tpsab1	A	G	17: 25,562,798 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,351,505 (GRCm39)	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,357,329 (GRCm39)	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,929,320 (GRCm39)	Y1052C	probably damaging	Het
Zan	A	T	5: 137,380,578 (GRCm39)		probably benign	Het
Zfp652	G	A	11: 95,654,565 (GRCm39)	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,629,955 (GRCm39)	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,848,134 (GRCm39)	Y110C	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
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'- TGCAGACTTGACTCATGGCCCT -3'
(R):5'- ATCCAGTGTCCCCTGCCCAAGA -3'

Sequencing Primer
(F):5'- tcttcctgcctctgcctc -3'
(R):5'- TGCCCAAGACAAGGCTACAG -3'

Posted On

2013-05-23