Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Ahcyl2'

158868

Institutional Source

Beutler Lab

Gene Symbol

Ahcyl2

Ensembl Gene

ENSMUSG00000029772

Gene Name

S-adenosylhomocysteine hydrolase-like 2

Synonyms

4631427C17Rik

MMRRC Submission

039501-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R1446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29768378-29912309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29891239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 448 (S448P)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064872] [ENSMUST00000102995] [ENSMUST00000115238] [ENSMUST00000115242] [ENSMUST00000125911]

AlphaFold

Q68FL4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064872
AA Change: S313P

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000067638
Gene: ENSMUSG00000029772
AA Change: S313P

Domain	Start	End	E-Value	Type
low complexity region	38	68	N/A	INTRINSIC
AdoHcyase	82	507	4.47e-268	SMART
AdoHcyase_NAD	267	428	2.21e-103	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102995
AA Change: S417P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100060
Gene: ENSMUSG00000029772
AA Change: S417P

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
low complexity region	35	80	N/A	INTRINSIC
low complexity region	142	172	N/A	INTRINSIC
AdoHcyase	186	611	4.47e-268	SMART
AdoHcyase_NAD	371	532	2.21e-103	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115238
AA Change: S313P

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110893
Gene: ENSMUSG00000029772
AA Change: S313P

Domain	Start	End	E-Value	Type
low complexity region	38	68	N/A	INTRINSIC
AdoHcyase	82	507	4.47e-268	SMART
AdoHcyase_NAD	267	428	2.21e-103	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115242
AA Change: S418P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110897
Gene: ENSMUSG00000029772
AA Change: S418P

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
low complexity region	35	80	N/A	INTRINSIC
low complexity region	143	173	N/A	INTRINSIC
AdoHcyase	187	612	4.47e-268	SMART
AdoHcyase_NAD	372	533	2.21e-103	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125911
AA Change: S209P

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135518
Gene: ENSMUSG00000029772
AA Change: S209P

Domain	Start	End	E-Value	Type
AdoHcyase	1	403	8.07e-243	SMART
AdoHcyase_NAD	163	324	2.21e-103	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149816

Predicted Effect

probably damaging
Transcript: ENSMUST00000166718
AA Change: S448P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133136
Gene: ENSMUSG00000029772
AA Change: S448P

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	20	48	N/A	INTRINSIC
low complexity region	65	110	N/A	INTRINSIC
low complexity region	173	203	N/A	INTRINSIC
AdoHcyase	217	642	4.47e-268	SMART
AdoHcyase_NAD	402	563	2.21e-103	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201020

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Adcy4	A	T	14: 56,007,480 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,346,935 (GRCm39)	Y745C	probably benign	Het
Anxa1	A	T	19: 20,351,103 (GRCm39)	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,153,591 (GRCm39)	D64G	probably benign	Het
Arpc1a	A	G	5: 145,037,896 (GRCm39)		probably null	Het
Bank1	C	T	3: 135,769,904 (GRCm39)	G727R	probably damaging	Het
Best2	T	C	8: 85,734,593 (GRCm39)	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,596,189 (GRCm39)	M501L	probably benign	Het
Col27a1	T	A	4: 63,143,040 (GRCm39)	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 57,922,560 (GRCm39)	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,112,128 (GRCm39)	H139R	probably benign	Het
Dppa5a	T	A	9: 78,275,071 (GRCm39)	N77I	probably benign	Het
Edc4	T	C	8: 106,614,764 (GRCm39)	S125P	probably damaging	Het
Eid2	T	C	7: 27,968,014 (GRCm39)	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,186,328 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,017 (GRCm39)	E830G	probably benign	Het
Fyb1	A	T	15: 6,681,947 (GRCm39)	I765L	probably benign	Het
Fyn	T	G	10: 39,398,775 (GRCm39)	S124A	probably benign	Het
Gal3st3	T	A	19: 5,356,939 (GRCm39)	F105I	probably damaging	Het
Gpr146	A	G	5: 139,379,177 (GRCm39)	I326M	probably benign	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Gsn	A	G	2: 35,196,598 (GRCm39)	K669R	probably benign	Het
H2-T10	A	T	17: 36,430,266 (GRCm39)	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,286,127 (GRCm39)	H106R	probably benign	Het
Kat14	A	G	2: 144,215,638 (GRCm39)	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,361,792 (GRCm39)	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,805,525 (GRCm39)	T244I	probably damaging	Het
Klb	A	T	5: 65,506,338 (GRCm39)	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,704,727 (GRCm39)	F252L	probably benign	Het
Lum	C	T	10: 97,404,252 (GRCm39)	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,475,681 (GRCm39)	L84*	probably null	Het
Mindy2	A	G	9: 70,514,738 (GRCm39)		probably null	Het
Mpped2	G	T	2: 106,614,077 (GRCm39)	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,905,425 (GRCm39)	R2058W	probably damaging	Het
Nol8	T	A	13: 49,808,703 (GRCm39)	L65Q	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or4c108	A	G	2: 88,804,109 (GRCm39)	I42T	probably benign	Het
Or4x6	A	T	2: 89,949,202 (GRCm39)	L247M	probably damaging	Het
Or5b105	G	A	19: 13,080,380 (GRCm39)	A96V	possibly damaging	Het
Or5g9	A	G	2: 85,551,917 (GRCm39)	H56R	probably damaging	Het
Or8b3	T	G	9: 38,314,601 (GRCm39)	C144G	possibly damaging	Het
Or9a4	C	T	6: 40,548,833 (GRCm39)	S171L	probably benign	Het
Parp12	G	T	6: 39,079,495 (GRCm39)	D338E	probably benign	Het
Pde6d	T	C	1: 86,474,414 (GRCm39)	E77G	probably damaging	Het
Phkg1	A	C	5: 129,902,055 (GRCm39)		probably null	Het
Pigw	A	C	11: 84,769,186 (GRCm39)	S48A	probably benign	Het
Pkm	T	A	9: 59,576,193 (GRCm39)		probably null	Het
Ppp1r3f	G	A	X: 7,426,602 (GRCm39)	T553M	probably damaging	Het
Retreg2	T	A	1: 75,120,103 (GRCm39)	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,753,035 (GRCm39)	M1762K	probably benign	Het
Sec16a	A	G	2: 26,313,579 (GRCm39)	V1927A	probably benign	Het
Sec23a	G	T	12: 59,025,345 (GRCm39)	A492E	probably damaging	Het
Skint4	T	A	4: 111,975,311 (GRCm39)	H82Q	probably benign	Het
Srbd1	T	C	17: 86,446,580 (GRCm39)	K60E	probably benign	Het
Stk24	A	G	14: 121,545,456 (GRCm39)	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,726,396 (GRCm39)	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848 (GRCm39)	P757S	probably damaging	Het
Tmc2	A	T	2: 130,090,650 (GRCm39)	E665D	probably damaging	Het
Tmprss15	C	A	16: 78,875,846 (GRCm39)	D163Y	probably benign	Het
Unc13a	C	A	8: 72,101,625 (GRCm39)	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,819,496 (GRCm39)	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,645,264 (GRCm39)	M450V	possibly damaging	Het
Wars2	T	C	3: 99,094,843 (GRCm39)	I46T	probably benign	Het
Wdfy3	G	T	5: 101,999,176 (GRCm39)	T3098K	possibly damaging	Het
Zan	A	T	5: 137,387,622 (GRCm39)	I4863N	unknown	Het
Zfp616	A	G	11: 73,974,064 (GRCm39)		probably null	Het
Zfp770	A	T	2: 114,027,514 (GRCm39)	I185N	probably damaging	Het
Zfp808	T	G	13: 62,320,821 (GRCm39)	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,776,275 (GRCm39)	W1221R	probably damaging	Het

Other mutations in Ahcyl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02966:Ahcyl2	APN	6	29,880,556 (GRCm39)	missense	probably benign	0.03
IGL03072:Ahcyl2	APN	6	29,906,500 (GRCm39)	splice site	probably benign
IGL03195:Ahcyl2	APN	6	29,906,768 (GRCm39)	splice site	probably benign
R0189:Ahcyl2	UTSW	6	29,891,242 (GRCm39)	missense	probably benign	0.32
R0395:Ahcyl2	UTSW	6	29,886,167 (GRCm39)	missense	probably damaging	1.00
R0555:Ahcyl2	UTSW	6	29,890,670 (GRCm39)	critical splice acceptor site	probably benign
R0924:Ahcyl2	UTSW	6	29,870,627 (GRCm39)	splice site	probably null
R0930:Ahcyl2	UTSW	6	29,870,627 (GRCm39)	splice site	probably null
R1413:Ahcyl2	UTSW	6	29,768,586 (GRCm39)	utr 5 prime	probably benign
R1822:Ahcyl2	UTSW	6	29,768,583 (GRCm39)	utr 5 prime	probably benign
R1864:Ahcyl2	UTSW	6	29,908,354 (GRCm39)	missense	probably damaging	1.00
R1865:Ahcyl2	UTSW	6	29,908,354 (GRCm39)	missense	probably damaging	1.00
R3810:Ahcyl2	UTSW	6	29,891,260 (GRCm39)	missense	probably benign	0.01
R4429:Ahcyl2	UTSW	6	29,894,874 (GRCm39)	missense	probably damaging	1.00
R4932:Ahcyl2	UTSW	6	29,890,700 (GRCm39)	missense	probably benign	0.22
R5019:Ahcyl2	UTSW	6	29,859,738 (GRCm39)	missense	possibly damaging	0.96
R5032:Ahcyl2	UTSW	6	29,768,555 (GRCm39)	utr 5 prime	probably benign
R5396:Ahcyl2	UTSW	6	29,859,697 (GRCm39)	intron	probably benign
R5604:Ahcyl2	UTSW	6	29,908,366 (GRCm39)	missense	probably damaging	1.00
R5817:Ahcyl2	UTSW	6	29,890,720 (GRCm39)	missense	probably damaging	1.00
R5959:Ahcyl2	UTSW	6	29,886,173 (GRCm39)	missense	probably damaging	1.00
R6159:Ahcyl2	UTSW	6	29,908,457 (GRCm39)	missense	possibly damaging	0.81
R6531:Ahcyl2	UTSW	6	29,886,161 (GRCm39)	missense	probably benign	0.41
R7025:Ahcyl2	UTSW	6	29,908,420 (GRCm39)	missense	probably damaging	1.00
R7478:Ahcyl2	UTSW	6	29,903,266 (GRCm39)	missense	probably damaging	1.00
R7560:Ahcyl2	UTSW	6	29,886,139 (GRCm39)	missense	probably damaging	1.00
R7604:Ahcyl2	UTSW	6	29,768,555 (GRCm39)	missense	unknown
R7960:Ahcyl2	UTSW	6	29,870,626 (GRCm39)	missense	probably benign	0.39
R7969:Ahcyl2	UTSW	6	29,870,663 (GRCm39)	missense	probably damaging	1.00
R8046:Ahcyl2	UTSW	6	29,878,619 (GRCm39)	missense	probably damaging	1.00
R8360:Ahcyl2	UTSW	6	29,768,869 (GRCm39)	missense	probably benign
R9432:Ahcyl2	UTSW	6	29,768,874 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CCGAGCATGAGTCTACTCAGCAAAC -3'
(R):5'- GCCTTGCACAGTAACCGCTTAGTC -3'

Sequencing Primer
(F):5'- CTCAGCAAACTTACTTTGAGGGG -3'
(R):5'- GTAACCGCTTAGTCTAGTAAACCG -3'

Posted On

2014-03-14