Mutagenetix > Incidental Mutation

Incidental Mutation 'R1531:Grhl1'

166235

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

039570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1531 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24622282-24667390 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 24632962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000082689 (fasta)

Gene Model

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

AlphaFold

Q921D9

Predicted Effect

probably null
Transcript: ENSMUST00000020985

SMART Domains

Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656

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 null
Transcript: ENSMUST00000085553

SMART Domains

Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	A	13: 59,648,448 (GRCm39)		probably null	Het
Aldh3b2	T	G	19: 4,027,543 (GRCm39)	F28C	probably damaging	Het
Apaf1	T	C	10: 90,890,383 (GRCm39)	N540S	probably damaging	Het
Apob	T	C	12: 8,047,880 (GRCm39)	I953T	possibly damaging	Het
Arhgef1	A	G	7: 24,624,423 (GRCm39)	T816A	probably damaging	Het
Arid4a	T	A	12: 71,122,779 (GRCm39)	F1053L	probably benign	Het
Atxn1l	A	C	8: 110,458,691 (GRCm39)	F524V	probably damaging	Het
Cad	T	A	5: 31,233,563 (GRCm39)	M1874K	probably benign	Het
Ccdc40	G	A	11: 119,154,015 (GRCm39)	V1096I	probably benign	Het
Ccdc93	A	G	1: 121,408,551 (GRCm39)	D358G	probably benign	Het
Cd96	T	C	16: 45,938,169 (GRCm39)	T99A	probably benign	Het
Cdc42ep3	A	T	17: 79,642,473 (GRCm39)	M149K	probably benign	Het
Cgas	A	G	9: 78,349,763 (GRCm39)	Y200H	probably damaging	Het
Cog4	A	G	8: 111,606,353 (GRCm39)	E613G	probably benign	Het
Crebbp	A	T	16: 3,902,381 (GRCm39)	I2286N	probably benign	Het
Csf1	T	C	3: 107,655,654 (GRCm39)	E459G	possibly damaging	Het
Csrp2	A	T	10: 110,771,066 (GRCm39)	Y57F	probably benign	Het
Ctdspl	C	T	9: 118,869,650 (GRCm39)	P244L	probably damaging	Het
Cyp2c29	A	G	19: 39,313,412 (GRCm39)	R303G	probably damaging	Het
Cyp4a10	C	A	4: 115,375,632 (GRCm39)	Y38*	probably null	Het
Dmgdh	T	A	13: 93,880,919 (GRCm39)	I783N	probably damaging	Het
Efcc1	G	A	6: 87,708,148 (GRCm39)	E92K	probably benign	Het
Eif2ak4	T	A	2: 118,273,691 (GRCm39)	L872H	probably damaging	Het
Elp2	T	A	18: 24,764,461 (GRCm39)	S603T	probably benign	Het
Eml2	T	A	7: 18,930,179 (GRCm39)	L300H	probably damaging	Het
Esp3	A	G	17: 40,946,827 (GRCm39)	K50R	possibly damaging	Het
Esrp1	A	G	4: 11,379,375 (GRCm39)	F136L	probably damaging	Het
Exoc1	T	A	5: 76,707,011 (GRCm39)	D497E	probably damaging	Het
Fat3	A	G	9: 15,908,761 (GRCm39)	S2414P	probably damaging	Het
Foxj3	C	T	4: 119,477,398 (GRCm39)	P369S	unknown	Het
Gkn2	G	T	6: 87,352,921 (GRCm39)		probably null	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Gm21905	A	T	5: 68,103,724 (GRCm39)		probably benign	Het
Grk6	A	G	13: 55,599,967 (GRCm39)	Y221C	probably damaging	Het
Hcrtr1	T	A	4: 130,024,720 (GRCm39)	K389*	probably null	Het
Hk1	G	A	10: 62,120,563 (GRCm39)	R545C	probably damaging	Het
Hsp90b1	A	T	10: 86,532,659 (GRCm39)	I339N	probably benign	Het
Ikzf3	T	C	11: 98,381,272 (GRCm39)	R103G	probably damaging	Het
Itgad	A	C	7: 127,777,542 (GRCm39)	I141L	probably benign	Het
Jmjd6	T	A	11: 116,733,266 (GRCm39)	Y137F	probably benign	Het
Kcna1	A	G	6: 126,619,030 (GRCm39)	V430A	probably benign	Het
Kel	A	G	6: 41,665,560 (GRCm39)	V520A	probably damaging	Het
Klhl41	G	A	2: 69,501,084 (GRCm39)	V182I	probably benign	Het
Ldhb	C	A	6: 142,447,121 (GRCm39)	M64I	probably benign	Het
Lrrc23	A	G	6: 124,753,077 (GRCm39)	S190P	possibly damaging	Het
Mboat2	T	C	12: 25,009,029 (GRCm39)	V445A	probably benign	Het
Mlycd	G	A	8: 120,128,258 (GRCm39)	W188*	probably null	Het
Mpp3	C	T	11: 101,899,475 (GRCm39)	E349K	probably benign	Het
Mtres1	A	G	10: 43,401,316 (GRCm39)	V211A	probably benign	Het
Myh4	A	G	11: 67,141,366 (GRCm39)	M780V	probably benign	Het
Myh6	G	A	14: 55,193,963 (GRCm39)	R809C	probably damaging	Het
Mylip	G	A	13: 45,560,046 (GRCm39)	V161M	possibly damaging	Het
Nrp1	G	A	8: 129,152,450 (GRCm39)	V220I	probably null	Het
Nup210	A	T	6: 91,011,823 (GRCm39)	N455K	probably benign	Het
Or14j10	A	T	17: 37,935,243 (GRCm39)	Y94*	probably null	Het
Or51f1d	C	A	7: 102,700,795 (GRCm39)	Q97K	probably benign	Het
Pbld2	G	T	10: 62,889,732 (GRCm39)		probably null	Het
Pclo	C	G	5: 14,571,917 (GRCm39)	P434R	probably damaging	Het
Pdlim3	A	G	8: 46,349,800 (GRCm39)	K37E	probably damaging	Het
Prkdc	T	A	16: 15,589,970 (GRCm39)	I2611N	probably benign	Het
Prr12	T	C	7: 44,677,954 (GRCm39)	D2019G	unknown	Het
Rab27a	A	G	9: 73,002,685 (GRCm39)	T205A	probably benign	Het
Rcan3	A	G	4: 135,152,595 (GRCm39)	L42P	probably damaging	Het
Rchy1	T	C	5: 92,103,474 (GRCm39)		probably null	Het
Sema6a	T	C	18: 47,382,066 (GRCm39)	H827R	probably damaging	Het
Sertad4	A	G	1: 192,533,258 (GRCm39)		probably null	Het
Smarcd1	T	A	15: 99,605,264 (GRCm39)	C282S	probably damaging	Het
Speg	A	G	1: 75,377,866 (GRCm39)	T769A	possibly damaging	Het
Syne1	T	A	10: 5,297,875 (GRCm39)	K1141*	probably null	Het
Synpo2	T	C	3: 122,911,315 (GRCm39)	E110G	probably benign	Het
Tg	T	A	15: 66,722,351 (GRCm39)	D333E	probably benign	Het
Tmem132c	A	G	5: 127,436,955 (GRCm39)	Y148C	probably damaging	Het
Tmem215	T	A	4: 40,473,965 (GRCm39)	V14E	probably damaging	Het
Tmem229b	A	G	12: 79,011,685 (GRCm39)	L82P	probably damaging	Het
Togaram1	A	G	12: 65,013,039 (GRCm39)	T97A	probably benign	Het
Trappc9	G	A	15: 72,565,397 (GRCm39)	R965*	probably null	Het
Trio	T	C	15: 27,833,071 (GRCm39)	I104V	probably benign	Het
Trp73	A	G	4: 154,148,352 (GRCm39)	F354S	probably benign	Het
Ttyh2	T	C	11: 114,577,278 (GRCm39)	L63P	probably damaging	Het
Ulk4	G	C	9: 120,873,841 (GRCm39)	P1197A	probably damaging	Het
Vmn1r176	T	C	7: 23,534,536 (GRCm39)	M206V	possibly damaging	Het
Vps8	T	A	16: 21,285,226 (GRCm39)	Y402*	probably null	Het
Zbtb41	A	G	1: 139,350,931 (GRCm39)	I15V	probably benign	Het
Zc3hav1	T	C	6: 38,284,170 (GRCm39)	I982V	possibly damaging	Het
Zmynd19	T	A	2: 24,848,123 (GRCm39)	N106K	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
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

2014-04-13