Mutagenetix > Incidental Mutation

Incidental Mutation 'R6419:Dhh'

518035

Institutional Source

Beutler Lab

Gene Symbol

Dhh

Ensembl Gene

ENSMUSG00000023000

Gene Name

desert hedgehog

Synonyms

MMRRC Submission

044561-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R6419 (G1)

Quality Score

187.009

Status

Validated

Chromosome

Chromosomal Location

98789033-98796421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98792282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 242 (F242S)

Ref Sequence

ENSEMBL: ENSMUSP00000023737 (fasta)

Gene Model

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

AlphaFold

Q61488

Predicted Effect

probably damaging
Transcript: ENSMUST00000023737
AA Change: F242S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023737
Gene: ENSMUSG00000023000
AA Change: F242S

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

noncoding transcript
Transcript: ENSMUST00000229352

Predicted Effect

probably benign
Transcript: ENSMUST00000229508

Predicted Effect

probably benign
Transcript: ENSMUST00000229556

Predicted Effect

probably benign
Transcript: ENSMUST00000229775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230242

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

96% (67/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	C	4: 42,812,473 (GRCm39)		probably benign	Het
Abcc2	T	A	19: 43,825,947 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,215,759 (GRCm39)	T260M	possibly damaging	Het
Adamts20	C	T	15: 94,231,556 (GRCm39)	V878I	possibly damaging	Het
Adgrl4	A	G	3: 151,144,953 (GRCm39)	E34G	probably damaging	Het
Asah1	A	T	8: 41,796,803 (GRCm39)	I293N	probably damaging	Het
Atosa	G	A	9: 74,916,619 (GRCm39)	S413N	probably benign	Het
B3galt2	A	T	1: 143,522,839 (GRCm39)	E325V	possibly damaging	Het
Baz1b	T	A	5: 135,271,348 (GRCm39)	H1310Q	probably benign	Het
Ccdc125	T	A	13: 100,826,834 (GRCm39)	N204K	probably damaging	Het
Cd36	C	T	5: 18,002,150 (GRCm39)	D284N	probably benign	Het
Cdh12	T	C	15: 21,520,483 (GRCm39)	L316S	probably damaging	Het
Cenpv	T	C	11: 62,416,008 (GRCm39)	K247R	probably benign	Het
Cldn18	T	C	9: 99,574,801 (GRCm39)	H257R	possibly damaging	Het
Cnot8	T	A	11: 58,004,891 (GRCm39)	Y197N	probably damaging	Het
Cog3	A	T	14: 75,962,178 (GRCm39)	C554*	probably null	Het
Col4a4	A	G	1: 82,444,207 (GRCm39)		probably null	Het
Cops5	G	A	1: 10,103,532 (GRCm39)	T158I	probably damaging	Het
Dot1l	T	C	10: 80,627,315 (GRCm39)	V1512A	possibly damaging	Het
Dstn	T	G	2: 143,781,907 (GRCm39)	I116S	possibly damaging	Het
Egfem1	G	A	3: 29,711,398 (GRCm39)	D326N	probably damaging	Het
Enpp3	A	T	10: 24,684,089 (GRCm39)	Y52N	probably damaging	Het
Gabra2	A	G	5: 71,119,426 (GRCm39)	S359P	probably benign	Het
Gbp7	G	A	3: 142,252,214 (GRCm39)	G599E	probably benign	Het
Gcat	T	G	15: 78,920,264 (GRCm39)	I198S	probably damaging	Het
Gm8439	A	G	4: 120,466,755 (GRCm39)	K82R	unknown	Het
Grin2b	A	G	6: 135,717,965 (GRCm39)	F709S	probably damaging	Het
Grm3	T	C	5: 9,620,201 (GRCm39)	N348D	probably damaging	Het
Hdgfl1	G	A	13: 26,954,075 (GRCm39)		probably benign	Het
Hmgxb3	G	T	18: 61,285,296 (GRCm39)	D564E	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Impg1	A	G	9: 80,287,300 (GRCm39)	V305A	probably benign	Het
Ints7	T	A	1: 191,334,414 (GRCm39)	S313T	possibly damaging	Het
Knl1	T	A	2: 118,899,484 (GRCm39)	I395K	probably benign	Het
Lactb2	A	T	1: 13,708,459 (GRCm39)	Y196*	probably null	Het
Lad1	T	C	1: 135,759,630 (GRCm39)	S509P	possibly damaging	Het
Ltf	T	C	9: 110,860,090 (GRCm39)	F504L	possibly damaging	Het
Med4	A	T	14: 73,751,363 (GRCm39)	D104V	probably damaging	Het
Mrpl58	A	T	11: 115,301,073 (GRCm39)	N128Y	probably damaging	Het
Ndufs2	T	C	1: 171,068,668 (GRCm39)	T54A	probably benign	Het
Notch2	G	T	3: 98,007,705 (GRCm39)		probably null	Het
Ntng1	A	T	3: 109,690,169 (GRCm39)	N424K	possibly damaging	Het
Ntrk2	G	A	13: 59,009,113 (GRCm39)	W301*	probably null	Het
Or5b116	T	A	19: 13,423,131 (GRCm39)	S252T	probably benign	Het
Otud6b	A	G	4: 14,822,766 (GRCm39)	S113P	possibly damaging	Het
Pcdhb20	A	G	18: 37,638,608 (GRCm39)	N378S	probably damaging	Het
Polr3b	T	C	10: 84,473,975 (GRCm39)	S185P	possibly damaging	Het
Ptprn	G	A	1: 75,240,681 (GRCm39)	R31C	probably benign	Het
Rgsl1	C	T	1: 153,698,117 (GRCm39)	V478M	probably damaging	Het
Sema6b	A	T	17: 56,439,784 (GRCm39)	L19*	probably null	Het
Slfn8	A	G	11: 82,894,881 (GRCm39)		probably null	Het
Spen	A	T	4: 141,203,621 (GRCm39)	S1669T	unknown	Het
Syne2	T	C	12: 76,143,740 (GRCm39)	F1522L	probably damaging	Het
Tarbp1	C	T	8: 127,185,783 (GRCm39)	A470T	possibly damaging	Het
Tent4a	A	C	13: 69,658,785 (GRCm39)	M350R	possibly damaging	Het
Tiam1	C	A	16: 89,694,912 (GRCm39)	E182*	probably null	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trip12	C	T	1: 84,771,591 (GRCm39)	A186T	probably damaging	Het
Ufc1	C	T	1: 171,116,529 (GRCm39)	A147T	probably damaging	Het
Vmn1r199	A	G	13: 22,567,777 (GRCm39)	K314R	possibly damaging	Het
Vmn2r13	A	T	5: 109,323,085 (GRCm39)	I68K	possibly damaging	Het
Vmn2r77	A	T	7: 86,460,767 (GRCm39)	I698F	probably damaging	Het
Vmn2r86	T	C	10: 130,282,795 (GRCm39)	K607R	probably damaging	Het
Vwa3b	T	C	1: 37,196,457 (GRCm39)	V28A	probably benign	Het
Wdr19	A	G	5: 65,373,236 (GRCm39)	N166S	possibly damaging	Het
Wfdc17	G	A	11: 83,595,634 (GRCm39)	G33R	probably damaging	Het
Zfp330	T	G	8: 83,491,545 (GRCm39)	K209N	probably benign	Het
Zfp493	A	G	13: 67,934,526 (GRCm39)	T160A	probably benign	Het
Zfp974	A	T	7: 27,610,940 (GRCm39)	C262S	possibly damaging	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
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
R9228:Dhh	UTSW	15	98,795,757 (GRCm39)	nonsense	probably null
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'- TGACTCTCTAGAACCGCGTAG -3'
(R):5'- TTGTGGCTTGCAGATAACTCAC -3'

Sequencing Primer
(F):5'- ACGTCGTTGACCAGCAG -3'
(R):5'- TTGCAGATAACTCACTGGCG -3'

Posted On

2018-05-24