Mutagenetix > Incidental Mutation

Incidental Mutation 'R1598:Scmh1'

175937

Institutional Source

Beutler Lab

Gene Symbol

Scmh1

Ensembl Gene

ENSMUSG00000000085

Gene Name

sex comb on midleg homolog 1

Synonyms

Scml3

MMRRC Submission

039635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120262478-120387383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120372327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 377 (I377F)

Ref Sequence

ENSEMBL: ENSMUSP00000101908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000087] [ENSMUST00000064991] [ENSMUST00000106298] [ENSMUST00000106301]

AlphaFold

Q8K214

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000087
AA Change: I377F

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085
AA Change: I377F

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	354	468	4.3e-50	PFAM
SAM	594	662	1.8e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064991
AA Change: I377F

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085
AA Change: I377F

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	357	465	5.8e-39	PFAM
SAM	594	662	1.57e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106298
AA Change: I377F

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085
AA Change: I377F

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	354	468	4.3e-50	PFAM
SAM	594	662	1.8e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106301
AA Change: I377F

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085
AA Change: I377F

Domain	Start	End	E-Value	Type
MBT	28	126	2.47e-48	SMART
MBT	134	235	1.36e-45	SMART
low complexity region	268	285	N/A	INTRINSIC
low complexity region	301	340	N/A	INTRINSIC
Pfam:DUF3588	354	468	4.7e-50	PFAM
SAM	594	662	1.57e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122860

SMART Domains

Protein: ENSMUSP00000120950
Gene: ENSMUSG00000000085

Domain	Start	End	E-Value	Type
Pfam:DUF3588	60	120	4.3e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144862

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an allele lacking the SPM domain exhibit partial penetrance of posterior vertebral transformations and male infertility with azoospermia and arrest of spermatogenesis. Mice homozygous for a knock-out allele exhibit abnormal hematopoiesis but normal fertility and skeleton. [provided by MGI curators]

Allele List at MGI

All alleles(67) : Targeted(4) Gene trapped(63)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	A	11: 80,254,838 (GRCm39)	Q328*	probably null	Het
Aadacl4fm4	T	A	4: 144,396,994 (GRCm39)	K246I	possibly damaging	Het
Adamts1	G	A	16: 85,595,399 (GRCm39)	Q260*	probably null	Het
Add2	A	T	6: 86,075,628 (GRCm39)	Y259F	probably benign	Het
Bora	T	C	14: 99,305,840 (GRCm39)	V403A	probably benign	Het
Ccnl1	G	A	3: 65,854,191 (GRCm39)	R477W	probably damaging	Het
Cdc25a	CG	CGG	9: 109,708,961 (GRCm39)		probably null	Het
Cdr2l	T	C	11: 115,284,203 (GRCm39)	S180P	probably damaging	Het
Cep290	T	A	10: 100,385,191 (GRCm39)	L1889Q	probably damaging	Het
Ces4a	T	C	8: 105,869,453 (GRCm39)	V208A	probably damaging	Het
Col2a1	T	C	15: 97,877,131 (GRCm39)	D1049G	probably damaging	Het
Coro1a	A	T	7: 126,300,864 (GRCm39)	N154K	possibly damaging	Het
Cubn	T	A	2: 13,474,600 (GRCm39)	R401S	probably benign	Het
Cul7	A	T	17: 46,974,017 (GRCm39)	Q1434L	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dars1	G	T	1: 128,301,709 (GRCm39)	D308E	probably benign	Het
Dna2	T	A	10: 62,797,436 (GRCm39)	F604I	probably damaging	Het
Dnah1	T	G	14: 31,023,219 (GRCm39)	I1033L	probably benign	Het
Erlin1	T	C	19: 44,036,112 (GRCm39)	E206G	probably damaging	Het
Esrp2	T	A	8: 106,859,905 (GRCm39)	E345D	probably damaging	Het
Foxa1	T	C	12: 57,589,473 (GRCm39)	D249G	possibly damaging	Het
Ghsr	C	A	3: 27,426,426 (GRCm39)	L161M	probably benign	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gpr155	C	A	2: 73,200,434 (GRCm39)	V358F	probably damaging	Het
H2-Eb2	A	T	17: 34,553,348 (GRCm39)	N178I	probably damaging	Het
Hydin	T	A	8: 111,137,306 (GRCm39)	I703N	possibly damaging	Het
Kctd15	A	G	7: 34,341,417 (GRCm39)	V170A	probably damaging	Het
Klhl31	A	T	9: 77,558,298 (GRCm39)	Y338F	possibly damaging	Het
Krt5	C	T	15: 101,620,876 (GRCm39)	A124T	probably benign	Het
Krt72	T	A	15: 101,688,688 (GRCm39)	I331F	probably benign	Het
Lrp1b	T	A	2: 41,401,490 (GRCm39)	D388V	probably damaging	Het
Ly9	A	G	1: 171,424,075 (GRCm39)	V382A	probably benign	Het
Mon2	T	C	10: 122,852,301 (GRCm39)	Y1024C	probably damaging	Het
Myh14	A	G	7: 44,287,818 (GRCm39)	F572L	probably damaging	Het
Myh3	A	T	11: 66,983,997 (GRCm39)	D987V	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nphp4	A	G	4: 152,646,547 (GRCm39)	T1360A	probably benign	Het
Oog4	A	G	4: 143,164,571 (GRCm39)	L320P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5m9	C	T	2: 85,877,657 (GRCm39)	T277I	probably damaging	Het
Or5w8	T	A	2: 87,688,095 (GRCm39)	I192K	probably benign	Het
Pcnx2	T	C	8: 126,498,825 (GRCm39)	N1558S	probably benign	Het
Pde10a	A	G	17: 9,147,976 (GRCm39)	E147G	probably damaging	Het
Pgbd5	T	A	8: 125,101,026 (GRCm39)	H410L	probably benign	Het
Plce1	A	C	19: 38,709,440 (GRCm39)	D1098A	probably damaging	Het
Psg25	G	A	7: 18,265,928 (GRCm39)	Q16*	probably null	Het
Psmd9	T	A	5: 123,379,980 (GRCm39)	V133E	probably damaging	Het
Rabgap1	C	T	2: 37,451,911 (GRCm39)	S937F	probably damaging	Het
Rbck1	A	G	2: 152,165,090 (GRCm39)		probably null	Het
Rprd2	C	G	3: 95,726,051 (GRCm39)		probably benign	Het
Rrs1	A	G	1: 9,616,137 (GRCm39)	N130S	probably benign	Het
Skor1	G	T	9: 63,053,286 (GRCm39)	R228S	probably damaging	Het
Slc2a4	A	G	11: 69,835,844 (GRCm39)	V335A	probably benign	Het
Slc4a9	G	A	18: 36,661,424 (GRCm39)	W62*	probably null	Het
Styxl2	G	A	1: 165,937,828 (GRCm39)	T77I	probably benign	Het
Taar9	G	T	10: 23,985,305 (GRCm39)	A43D	possibly damaging	Het
Tns4	T	C	11: 98,961,243 (GRCm39)	Y645C	probably damaging	Het
Tpcn2	G	T	7: 144,830,957 (GRCm39)	Y129*	probably null	Het
Trpm3	T	C	19: 22,710,388 (GRCm39)	S278P	possibly damaging	Het
Ttc3	T	C	16: 94,223,156 (GRCm39)	W615R	probably damaging	Het
Ttll5	T	C	12: 85,910,372 (GRCm39)	V207A	probably damaging	Het
Ubr7	G	T	12: 102,736,153 (GRCm39)	M358I	probably damaging	Het
Urb1	C	A	16: 90,574,328 (GRCm39)	V918F	possibly damaging	Het
Vmn2r51	G	A	7: 9,839,432 (GRCm39)	T52I	probably benign	Het
Vmn2r95	A	T	17: 18,672,575 (GRCm39)	I771F	probably benign	Het
Wfdc16	T	C	2: 164,477,350 (GRCm39)	S107G	probably benign	Het
Zmym2	A	G	14: 57,140,226 (GRCm39)	T22A	possibly damaging	Het
Zmym2	G	A	14: 57,151,524 (GRCm39)	G470R	probably damaging	Het

Other mutations in Scmh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Scmh1	APN	4	120,387,097 (GRCm39)	utr 3 prime	probably benign
IGL01962:Scmh1	APN	4	120,340,781 (GRCm39)	splice site	probably benign
IGL02013:Scmh1	APN	4	120,340,929 (GRCm39)	missense	possibly damaging	0.77
IGL02081:Scmh1	APN	4	120,372,275 (GRCm39)	missense	probably damaging	1.00
IGL02223:Scmh1	APN	4	120,372,416 (GRCm39)	missense	probably benign	0.26
IGL02530:Scmh1	APN	4	120,385,343 (GRCm39)	splice site	probably benign
IGL02887:Scmh1	APN	4	120,325,586 (GRCm39)	missense	probably damaging	1.00
P0024:Scmh1	UTSW	4	120,335,231 (GRCm39)	missense	probably damaging	1.00
R0164:Scmh1	UTSW	4	120,387,062 (GRCm39)	unclassified	probably benign
R0164:Scmh1	UTSW	4	120,387,062 (GRCm39)	unclassified	probably benign
R0200:Scmh1	UTSW	4	120,341,028 (GRCm39)	missense	probably damaging	0.99
R1624:Scmh1	UTSW	4	120,386,425 (GRCm39)	missense	probably damaging	1.00
R2276:Scmh1	UTSW	4	120,340,869 (GRCm39)	missense	probably damaging	1.00
R3734:Scmh1	UTSW	4	120,335,277 (GRCm39)	missense	probably damaging	1.00
R4167:Scmh1	UTSW	4	120,386,473 (GRCm39)	intron	probably benign
R4570:Scmh1	UTSW	4	120,385,495 (GRCm39)	missense	probably damaging	1.00
R5458:Scmh1	UTSW	4	120,362,478 (GRCm39)	unclassified	probably benign
R5564:Scmh1	UTSW	4	120,325,575 (GRCm39)	missense	probably damaging	1.00
R5700:Scmh1	UTSW	4	120,374,143 (GRCm39)	missense	probably benign	0.10
R5991:Scmh1	UTSW	4	120,379,817 (GRCm39)	missense	probably benign
R5999:Scmh1	UTSW	4	120,362,712 (GRCm39)	critical splice donor site	probably null
R7097:Scmh1	UTSW	4	120,382,252 (GRCm39)	missense	probably benign
R7432:Scmh1	UTSW	4	120,386,353 (GRCm39)	missense	probably damaging	1.00
R8327:Scmh1	UTSW	4	120,379,699 (GRCm39)	missense	probably benign
R8680:Scmh1	UTSW	4	120,319,331 (GRCm39)	missense	probably benign
R8745:Scmh1	UTSW	4	120,362,559 (GRCm39)	nonsense	probably null
R9018:Scmh1	UTSW	4	120,362,514 (GRCm39)	missense	probably benign	0.01
R9141:Scmh1	UTSW	4	120,362,556 (GRCm39)	missense	probably benign	0.00
R9283:Scmh1	UTSW	4	120,319,337 (GRCm39)	missense	probably benign
R9426:Scmh1	UTSW	4	120,362,556 (GRCm39)	missense	probably benign	0.00
R9454:Scmh1	UTSW	4	120,372,276 (GRCm39)	missense	probably benign
R9487:Scmh1	UTSW	4	120,320,284 (GRCm39)	nonsense	probably null
R9617:Scmh1	UTSW	4	120,340,827 (GRCm39)	missense	probably damaging	1.00
R9775:Scmh1	UTSW	4	120,340,820 (GRCm39)	missense	probably benign
Z1176:Scmh1	UTSW	4	120,335,239 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCCCCATTTCTTAGCAGACAGACC -3'
(R):5'- ACCTGAAATGACTTCACCGCCG -3'

Sequencing Primer
(F):5'- TTAGATCCACCTTCATGGGAAC -3'
(R):5'- CCGTGGCCCTGTTTGAG -3'

Posted On

2014-04-24