Mutagenetix > Incidental Mutation

Incidental Mutation 'R9228:Dhh'

700050

Institutional Source

Beutler Lab

Gene Symbol

Dhh

Ensembl Gene

ENSMUSG00000023000

Gene Name

desert hedgehog

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R9228 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

98789033-98796421 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 98795757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 133 (R133*)

Ref Sequence

ENSEMBL: ENSMUSP00000155712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023737] [ENSMUST00000229508] [ENSMUST00000229556] [ENSMUST00000229775]

AlphaFold

Q61488

Predicted Effect

probably benign
Transcript: ENSMUST00000023737

SMART Domains

Protein: ENSMUSP00000023737
Gene: ENSMUSG00000023000

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:HH_signal	23	185	2.1e-86	PFAM
Pfam:Peptidase_M15_3	129	185	5.9e-8	PFAM
HintN	197	304	1.29e-25	SMART
HintC	305	349	1.89e-9	SMART
low complexity region	358	374	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229508

Predicted Effect

probably benign
Transcript: ENSMUST00000229556

Predicted Effect

probably null
Transcript: ENSMUST00000229775
AA Change: R133*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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 hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mutants are male sterile, failing to produce mature spermatozoa; peripheral nerves are abnormal, with thin and disorganized perineurial sheaths. High penetrance of pseudohermaphroditism observed on some mixed backgrounds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	A	3: 122,718,274 (GRCm39)	A56T	probably benign	Het
4930438A08Rik	A	T	11: 58,178,296 (GRCm39)	I119F		Het
Abca12	A	T	1: 71,332,599 (GRCm39)	I1254N	probably damaging	Het
Abcb11	G	T	2: 69,138,809 (GRCm39)	Y157*	probably null	Het
Adcy7	G	A	8: 89,044,675 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,026,798 (GRCm39)	Y166H	probably damaging	Het
Adprhl1	A	G	8: 13,275,279 (GRCm39)	V493A	probably benign	Het
Ahctf1	T	C	1: 179,611,685 (GRCm39)	T562A	probably benign	Het
Amotl1	T	A	9: 14,504,320 (GRCm39)	N296I	possibly damaging	Het
Ankar	A	G	1: 72,713,210 (GRCm39)	V693A	probably benign	Het
Ankrd16	T	C	2: 11,786,318 (GRCm39)	V189A	probably benign	Het
Bmp1	A	G	14: 70,757,338 (GRCm39)	L47P	probably benign	Het
Cacna2d4	A	G	6: 119,248,476 (GRCm39)	D429G	probably benign	Het
Cadps2	T	A	6: 23,688,927 (GRCm39)	E127D	probably benign	Het
Cd109	A	T	9: 78,577,042 (GRCm39)	I580F	possibly damaging	Het
Cdrt4	T	A	11: 62,842,124 (GRCm39)	I2N	unknown	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chuk	A	T	19: 44,095,789 (GRCm39)	W15R	probably damaging	Het
Cpvl	C	T	6: 53,951,779 (GRCm39)	M1I	probably null	Het
Cyfip1	A	G	7: 55,549,758 (GRCm39)	M642V	probably damaging	Het
Dnmt3b	G	A	2: 153,507,980 (GRCm39)	V212M	probably benign	Het
Dync2li1	A	G	17: 84,957,137 (GRCm39)	S301G	probably benign	Het
Epas1	A	C	17: 87,133,990 (GRCm39)	I500L	possibly damaging	Het
Ephb4	A	T	5: 137,352,824 (GRCm39)	I136F	possibly damaging	Het
Foxg1	T	C	12: 49,431,320 (GRCm39)	F18L	unknown	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gpld1	A	T	13: 25,136,900 (GRCm39)	S73C	probably damaging	Het
Hddc3	A	G	7: 79,993,328 (GRCm39)	I52V	probably benign	Het
Hmgcll1	A	T	9: 75,991,732 (GRCm39)	T252S	probably damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Jph2	A	G	2: 163,180,606 (GRCm39)	V675A	probably benign	Het
Kifap3	T	C	1: 163,689,666 (GRCm39)	F550S	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kplce	C	T	3: 92,775,951 (GRCm39)	G244D	probably benign	Het
L1td1	T	C	4: 98,625,932 (GRCm39)	V643A	possibly damaging	Het
L3mbtl3	C	T	10: 26,212,155 (GRCm39)	M255I	unknown	Het
Layn	T	A	9: 50,968,837 (GRCm39)	D302V	probably damaging	Het
Lpcat4	A	G	2: 112,072,418 (GRCm39)	I136V	possibly damaging	Het
Lrp1	T	A	10: 127,382,807 (GRCm39)	D3658V	probably damaging	Het
Metap1d	T	C	2: 71,352,900 (GRCm39)	L243S	possibly damaging	Het
Midn	T	A	10: 79,990,275 (GRCm39)	H315Q	probably damaging	Het
Mtrex	A	T	13: 113,050,888 (GRCm39)		probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myh2	T	C	11: 67,077,522 (GRCm39)	S886P	probably benign	Het
Nemf	T	C	12: 69,388,093 (GRCm39)	I396V	probably damaging	Het
Nemp1	T	G	10: 127,525,227 (GRCm39)	V127G	possibly damaging	Het
Nkx3-1	C	T	14: 69,428,227 (GRCm39)	T25M	possibly damaging	Het
Nmral1	A	C	16: 4,531,631 (GRCm39)	L208R	probably damaging	Het
Nol6	A	T	4: 41,116,422 (GRCm39)	I989N	probably benign	Het
Or12e7	T	A	2: 87,287,907 (GRCm39)	C133S	possibly damaging	Het
Palld	A	T	8: 62,173,571 (GRCm39)	S363T	probably damaging	Het
Pcdha11	A	G	18: 37,144,512 (GRCm39)	D201G	probably damaging	Het
Per2	A	G	1: 91,366,081 (GRCm39)	C339R	probably damaging	Het
Phactr4	T	C	4: 132,097,874 (GRCm39)	T455A	possibly damaging	Het
Phc2	T	C	4: 128,617,062 (GRCm39)	I445T	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ppp2r5e	T	A	12: 75,640,063 (GRCm39)	K13*	probably null	Het
Ptafr	T	C	4: 132,306,613 (GRCm39)	M1T	probably null	Het
Rbms1	G	A	2: 60,610,087 (GRCm39)	P208S	probably benign	Het
Scg3	T	A	9: 75,558,955 (GRCm39)	I419F	probably damaging	Het
Scn1a	T	C	2: 66,130,099 (GRCm39)	T219A	probably benign	Het
Sec14l4	A	G	11: 3,989,977 (GRCm39)	D92G	probably damaging	Het
Senp3	G	T	11: 69,569,085 (GRCm39)	Q359K	probably damaging	Het
Sirt1	T	C	10: 63,172,857 (GRCm39)	D142G	probably damaging	Het
Skint2	T	C	4: 112,483,039 (GRCm39)	M148T	possibly damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Snai2	T	A	16: 14,524,792 (GRCm39)	D99E	probably damaging	Het
Spg7	A	G	8: 123,807,408 (GRCm39)	K395E	possibly damaging	Het
Sphk2	G	A	7: 45,360,337 (GRCm39)	H556Y	possibly damaging	Het
Supt6	A	C	11: 78,116,612 (GRCm39)	F637L	probably benign	Het
Tcam1	A	G	11: 106,177,292 (GRCm39)	N428S	probably damaging	Het
Tctn3	C	T	19: 40,596,692 (GRCm39)	R276K	probably benign	Het
Timm29	G	A	9: 21,504,656 (GRCm39)	R108H	probably damaging	Het
Tlr9	A	T	9: 106,102,752 (GRCm39)	E681V	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tns3	T	C	11: 8,400,094 (GRCm39)	K1169E	probably damaging	Het
Trim72	A	C	7: 127,608,315 (GRCm39)	D271A	possibly damaging	Het
Trpv4	A	T	5: 114,772,622 (GRCm39)	D369E	probably benign	Het
Ttn	A	G	2: 76,583,192 (GRCm39)	L22567P	probably damaging	Het
Uimc1	G	A	13: 55,223,652 (GRCm39)	P207S	probably damaging	Het
Unc5d	A	T	8: 29,165,448 (GRCm39)	V781E	probably damaging	Het
Upk3bl	C	T	5: 136,086,076 (GRCm39)	P4L	unknown	Het
Vmn1r201	A	G	13: 22,659,670 (GRCm39)	N295D	probably benign	Het
Vmn2r69	A	G	7: 85,064,697 (GRCm39)	I63T	probably benign	Het
Zfyve28	T	C	5: 34,374,788 (GRCm39)	T409A	probably benign	Het

Other mutations in Dhh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Dhh	APN	15	98,796,101 (GRCm39)	unclassified	probably benign
IGL01845:Dhh	APN	15	98,795,864 (GRCm39)	missense	probably damaging	1.00
IGL02728:Dhh	APN	15	98,792,192 (GRCm39)	splice site	probably null
R0096:Dhh	UTSW	15	98,791,869 (GRCm39)	missense	probably benign	0.00
R1294:Dhh	UTSW	15	98,792,264 (GRCm39)	missense	probably benign	0.00
R1842:Dhh	UTSW	15	98,792,441 (GRCm39)	splice site	probably null
R4351:Dhh	UTSW	15	98,796,099 (GRCm39)	unclassified	probably benign
R4727:Dhh	UTSW	15	98,796,023 (GRCm39)	missense	probably damaging	0.99
R4744:Dhh	UTSW	15	98,792,139 (GRCm39)	missense	possibly damaging	0.86
R5120:Dhh	UTSW	15	98,796,038 (GRCm39)	missense	probably benign	0.05
R6419:Dhh	UTSW	15	98,792,282 (GRCm39)	missense	probably damaging	1.00
R6630:Dhh	UTSW	15	98,792,247 (GRCm39)	missense	possibly damaging	0.86
R7031:Dhh	UTSW	15	98,791,907 (GRCm39)	missense	possibly damaging	0.84
R7032:Dhh	UTSW	15	98,791,907 (GRCm39)	missense	possibly damaging	0.84
R7330:Dhh	UTSW	15	98,792,291 (GRCm39)	missense	probably damaging	1.00
R8975:Dhh	UTSW	15	98,795,976 (GRCm39)	missense	probably damaging	1.00
R9755:Dhh	UTSW	15	98,792,939 (GRCm39)	missense	possibly damaging	0.53
X0060:Dhh	UTSW	15	98,792,190 (GRCm39)	missense	possibly damaging	0.95
Z1088:Dhh	UTSW	15	98,792,790 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCTATCATAGCCAGCTCCTG -3'
(R):5'- AGTTTGTGCCCAGTATGCCC -3'

Sequencing Primer
(F):5'- TGGCTCGGTGACTGACC -3'
(R):5'- AGTATGCCCGAGCGGAC -3'

Posted On

2022-02-07