Mutagenetix > Incidental Mutation

Incidental Mutation 'R7097:Scmh1'

550547

Institutional Source

Beutler Lab

Gene Symbol

Scmh1

Ensembl Gene

ENSMUSG00000000085

Gene Name

sex comb on midleg homolog 1

Synonyms

Scml3

MMRRC Submission

045189-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120262478-120387383 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120382252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 573 (H573R)

Ref Sequence

ENSEMBL: ENSMUSP00000000087 (fasta)

Gene Model

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

AlphaFold

Q8K214

Predicted Effect

probably benign
Transcript: ENSMUST00000000087
AA Change: H573R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085
AA Change: H573R

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

probably benign
Transcript: ENSMUST00000064991
AA Change: H573R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085
AA Change: H573R

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

probably benign
Transcript: ENSMUST00000106298
AA Change: H573R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085
AA Change: H573R

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

probably benign
Transcript: ENSMUST00000106301
AA Change: H573R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085
AA Change: H573R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,224,052 (GRCm39)	N435S	probably damaging	Het
Aip	A	T	19: 4,165,381 (GRCm39)	V195E	probably benign	Het
Amer3	A	T	1: 34,627,869 (GRCm39)	I703F	probably benign	Het
Amfr	T	C	8: 94,738,637 (GRCm39)	E7G	probably benign	Het
Angel1	A	G	12: 86,773,158 (GRCm39)	S4P	probably damaging	Het
Atp2c1	A	G	9: 105,341,850 (GRCm39)	I146T	probably damaging	Het
Atp6v0e	A	G	17: 26,914,390 (GRCm39)	T72A	probably benign	Het
Bahcc1	T	C	11: 120,163,472 (GRCm39)	V590A	possibly damaging	Het
Bcl6	A	G	16: 23,791,364 (GRCm39)	V330A	possibly damaging	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Btaf1	C	T	19: 36,926,502 (GRCm39)	T58I	probably damaging	Het
Ccdc175	A	T	12: 72,175,183 (GRCm39)		probably null	Het
Cdca4	C	A	12: 112,785,189 (GRCm39)	V180L	probably benign	Het
Ces1g	C	A	8: 94,043,665 (GRCm39)	G425C	possibly damaging	Het
Chl1	T	C	6: 103,683,409 (GRCm39)	L745P	probably damaging	Het
Clec4g	T	A	8: 3,769,518 (GRCm39)	T42S	possibly damaging	Het
Ctsg	A	C	14: 56,337,489 (GRCm39)	I238S	probably damaging	Het
Cyb5rl	A	T	4: 106,944,513 (GRCm39)	E41V	unknown	Het
Dcdc2a	A	G	13: 25,291,681 (GRCm39)	E222G	probably benign	Het
Dnaaf1	G	T	8: 120,323,538 (GRCm39)	G509V	possibly damaging	Het
Dnah5	A	G	15: 28,453,410 (GRCm39)	I4394V	probably benign	Het
Dot1l	T	G	10: 80,626,560 (GRCm39)	S1260R	probably damaging	Het
Dst	T	G	1: 34,208,341 (GRCm39)	I1089S	probably damaging	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Eps8l3	A	G	3: 107,791,801 (GRCm39)		probably null	Het
Fam135b	A	G	15: 71,493,917 (GRCm39)	V4A	possibly damaging	Het
Fnip2	T	C	3: 79,388,313 (GRCm39)	E806G	probably benign	Het
Fryl	T	A	5: 73,231,251 (GRCm39)	I1609F	probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gsn	A	T	2: 35,185,061 (GRCm39)	K339*	probably null	Het
Hecw2	T	A	1: 53,904,283 (GRCm39)	Y1155F	possibly damaging	Het
Kif20b	T	A	19: 34,951,892 (GRCm39)	N1723K	probably damaging	Het
Kif2b	T	C	11: 91,467,650 (GRCm39)	D211G	probably benign	Het
Lhfpl4	C	T	6: 113,153,632 (GRCm39)	V140I	probably benign	Het
Med16	C	T	10: 79,739,177 (GRCm39)	G203D	probably damaging	Het
Mrgpra3	T	A	7: 47,239,389 (GRCm39)	Y179F	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo18b	A	G	5: 113,022,271 (GRCm39)	S374P	unknown	Het
Myoz1	A	G	14: 20,699,477 (GRCm39)	I287T	possibly damaging	Het
Ncoa6	T	C	2: 155,279,983 (GRCm39)	D11G	probably benign	Het
Nlrp9c	A	G	7: 26,085,046 (GRCm39)	Y178H	probably damaging	Het
Nmur1	T	C	1: 86,315,230 (GRCm39)	T212A	probably damaging	Het
Oacyl	A	G	18: 65,853,323 (GRCm39)	D143G	probably benign	Het
Obox5	A	G	7: 15,492,732 (GRCm39)	Y229C	probably damaging	Het
Or10d1c	A	T	9: 38,893,914 (GRCm39)	M142K	probably benign	Het
Or1j12	A	G	2: 36,342,702 (GRCm39)	Y35C	probably damaging	Het
Or1j18	G	T	2: 36,624,436 (GRCm39)	M34I	probably benign	Het
Or1x2	C	A	11: 50,918,428 (GRCm39)	L200I	probably benign	Het
Or8c13	A	T	9: 38,091,632 (GRCm39)	C162*	probably null	Het
Pcdhb17	A	C	18: 37,619,566 (GRCm39)	N452T	probably benign	Het
Pear1	T	G	3: 87,658,752 (GRCm39)	H901P	probably benign	Het
Peds1	C	G	2: 167,503,398 (GRCm39)	A7P	probably benign	Het
Pi16	A	G	17: 29,545,313 (GRCm39)	Y192C	probably damaging	Het
Pip5k1b	T	G	19: 24,335,424 (GRCm39)	E362D	probably damaging	Het
Pla2g5	T	C	4: 138,531,830 (GRCm39)	D58G	probably damaging	Het
Pole	T	A	5: 110,472,968 (GRCm39)		probably null	Het
Prdm16	G	T	4: 154,429,925 (GRCm39)	T348K	probably damaging	Het
Prkdc	T	A	16: 15,507,207 (GRCm39)	F896I	probably damaging	Het
Prmt7	T	C	8: 106,961,732 (GRCm39)	F215S	unknown	Het
Prss23	T	A	7: 89,159,392 (GRCm39)	T226S	probably damaging	Het
Ptpn14	G	A	1: 189,595,595 (GRCm39)	W739*	probably null	Het
Rfx5	G	T	3: 94,863,850 (GRCm39)	G135C	probably damaging	Het
Serpina5	G	T	12: 104,068,554 (GRCm39)		probably null	Het
Sh3rf2	G	A	18: 42,237,227 (GRCm39)		probably null	Het
Slc38a2	T	C	15: 96,591,182 (GRCm39)	M229V	probably damaging	Het
Slc6a17	C	G	3: 107,400,464 (GRCm39)	G222R	probably damaging	Het
Sp110	C	T	1: 85,507,406 (GRCm39)	G367D	possibly damaging	Het
Srcap	C	A	7: 127,138,213 (GRCm39)	L1128M	probably damaging	Het
Tpra1	T	A	6: 88,885,276 (GRCm39)	I76N	probably damaging	Het
Trav6-4	A	T	14: 53,692,049 (GRCm39)	Y52F	probably benign	Het
Trp63	C	A	16: 25,639,227 (GRCm39)	H138Q	probably damaging	Het
Trub2	A	G	2: 29,669,838 (GRCm39)	V177A	possibly damaging	Het
Ugt2a2	T	C	5: 87,608,255 (GRCm39)	D528G	possibly damaging	Het
Wnk2	C	A	13: 49,256,314 (GRCm39)	R269L	possibly damaging	Het
Zc3h12c	T	A	9: 52,027,226 (GRCm39)	Q731L	possibly 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
R1598:Scmh1	UTSW	4	120,372,327 (GRCm39)	missense	possibly damaging	0.83
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
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'- TGTCACACAGAGATGTAGCTGAG -3'
(R):5'- GCTCATCAGATAGAATCCAGCC -3'

Sequencing Primer
(F):5'- ATGTAGCTGAGACATGGCTACCTC -3'
(R):5'- CAGATAGAATCCAGCCTTAGAGGTTC -3'

Posted On

2019-05-15